Carolyn M Sue

Carolyn M Sue

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Carolyn M Sue

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A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.

Neuropediatrics 2019 Aug 7;50(4):248-252. Epub 2019 May 7.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St. Leonards, Australia.

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http://dx.doi.org/10.1055/s-0039-1684052DOI Listing
August 2019

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Cerebellum 2019 Aug;18(4):781-790

Department of Neurology, Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1007/s12311-019-01038-0DOI Listing
August 2019

The gut microbiota: A novel therapeutic target in Parkinson's disease?

Parkinsonism Relat Disord 2019 Aug 12. Epub 2019 Aug 12.

Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, St Leonards, NSW, Australia; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St Leonards, NSW, Australia.

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http://dx.doi.org/10.1016/j.parkreldis.2019.08.010DOI Listing
August 2019

New insights into the complex role of mitochondria in Parkinson's disease.

Prog Neurobiol 2019 Jun 13;177:73-93. Epub 2018 Sep 13.

Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, 2065, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, St Leonards, Sydney, NSW, 2065, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2018.09.003DOI Listing
June 2019

Genetic mimics of cerebral palsy.

Mov Disord 2019 May 26;34(5):625-636. Epub 2019 Mar 26.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, St Leonards, NSW, Australia.

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http://dx.doi.org/10.1002/mds.27655DOI Listing
May 2019

Parkinson's disease and the gastrointestinal microbiome.

J Neurol 2019 Apr 30. Epub 2019 Apr 30.

Department of Neurology, Royal North Shore Hospital, St Leonards, NSW, Australia.

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http://dx.doi.org/10.1007/s00415-019-09320-1DOI Listing
April 2019

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Cerebellum 2019 Feb;18(1):137-146

Department of Neurogenetics, Kolling Institute, University of Sydney and Northern Sydney Local Health District, St Leonards, Australia.

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http://dx.doi.org/10.1007/s12311-018-0969-7DOI Listing
February 2019

How Do I Manage Patients With the Levodopa/Carbidopa Intestinal Gel?

Mov Disord Clin Pract 2019 Feb 15;6(2):181. Epub 2018 Nov 15.

Department of Neurogenetics & Centre of Excellence for Parkinson's Disease and Movement Disorders Royal North Shore Hospital St Leonards NSW Australia.

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http://dx.doi.org/10.1002/mdc3.12701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384179PMC
February 2019

Expanding the spectrum of mutations and novel insights into disease mechanisms.

Mol Genet Metab Rep 2018 Sep 20;16:46-51. Epub 2018 Jul 20.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, St. Leonards, NSW, Australia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072801PMC
September 2018

Mitochondrial diseases.

Handb Clin Neurol 2018 ;147:125-141

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-63233-3.00010-5DOI Listing
July 2018

Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery.

Brain Sci 2018 Jul 31;8(8). Epub 2018 Jul 31.

Griffith Institute for Drug Discovery, Griffith University, Brisbane, QLD 4111, Australia.

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http://www.mdpi.com/2076-3425/8/8/142
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http://dx.doi.org/10.3390/brainsci8080142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120041PMC
July 2018

Movement disorders in mitochondrial disease.

J Neurol 2018 May 6;265(5):1230-1240. Epub 2018 Jan 6.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1007/s00415-017-8722-6DOI Listing
May 2018

Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease.

Mov Disord 2018 05 14;33(5):852-854. Epub 2018 Feb 14.

Department of Neurogenetics, Kolling Institute, Northern Sydney Local Health District, St. Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1002/mds.27327DOI Listing
May 2018

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Curr Neurol Neurosci Rep 2018 04 3;18(5):21. Epub 2018 Apr 3.

Department of Neurogenetics, Kolling Institute, University of Sydney and Northern Sydney Local Health District, St. Leonards, Sydney, NSW, 2065, Australia.

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http://dx.doi.org/10.1007/s11910-018-0829-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882770PMC
April 2018

Levodopa-carbidopa intestinal gel: 'dismantling the road blocks of a journey'.

Intern Med J 2018 Apr;48(4):472-474

Department of Neurogenetics and Centre of Excellence for Parkinson's Disease and Movement Disorders, Royal North Shore Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/imj.13757DOI Listing
April 2018

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.

Curr Protein Pept Sci 2017 ;18(7):725-732

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and the University of Sydney, St. Leonards, NSW 2065. Australia.

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http://dx.doi.org/10.2174/1389203717666160311121534DOI Listing
November 2017

Practical approaches to commencing device-assisted therapies for Parkinson disease in Australia.

Intern Med J 2017 Oct;47(10):1107-1113

Department of Neurology, Royal North Shore Hospital, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/imj.13398DOI Listing
October 2017

Commentary: Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease.

Front Mol Neurosci 2017 19;10:297. Epub 2017 Sep 19.

Department of Neurogenetics, Kolling Institute, Northern Sydney Local Health DistrictSt. Leonards, NSW, Australia.

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http://dx.doi.org/10.3389/fnmol.2017.00297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610721PMC
September 2017

Beyond what the eye can see.

Surv Ophthalmol 2016 Sep-Oct;61(5):674-9. Epub 2016 Feb 26.

Department of Medicine (Neurology), University of British Columbia, Vancouver, Canada; Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada; Department of Psychology, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.survophthal.2016.02.003DOI Listing
May 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease.

Sci Rep 2017 03 10;7:44373. Epub 2017 Mar 10.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, New South Wales 2065, Australia.

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http://dx.doi.org/10.1038/srep44373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345073PMC
March 2017

Role of microRNAs in the Regulation of α-Synuclein Expression: A Systematic Review.

Front Mol Neurosci 2016 21;9:128. Epub 2016 Nov 21.

Department of Neurogenetics, Kolling Institute, The Royal North Shore Hospital, Northern Sydney Local Health DistrictSt. Leonards, NSW, Australia; Northern Clinical School, Sydney Medical School, University of SydneySydney, NSW, Australia.

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http://dx.doi.org/10.3389/fnmol.2016.00128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116472PMC
November 2016

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Authors:
Daniel J Klionsky Kotb Abdelmohsen Akihisa Abe Md Joynal Abedin Hagai Abeliovich Abraham Acevedo Arozena Hiroaki Adachi Christopher M Adams Peter D Adams Khosrow Adeli Peter J Adhihetty Sharon G Adler Galila Agam Rajesh Agarwal Manish K Aghi Maria Agnello Patrizia Agostinis Patricia V Aguilar Julio Aguirre-Ghiso Edoardo M Airoldi Slimane Ait-Si-Ali Takahiko Akematsu Emmanuel T Akporiaye Mohamed Al-Rubeai Guillermo M Albaiceta Chris Albanese Diego Albani Matthew L Albert Jesus Aldudo Hana Algül Mehrdad Alirezaei Iraide Alloza Alexandru Almasan Maylin Almonte-Beceril Emad S Alnemri Covadonga Alonso Nihal Altan-Bonnet Dario C Altieri Silvia Alvarez Lydia Alvarez-Erviti Sandro Alves Giuseppina Amadoro Atsuo Amano Consuelo Amantini Santiago Ambrosio Ivano Amelio Amal O Amer Mohamed Amessou Angelika Amon Zhenyi An Frank A Anania Stig U Andersen Usha P Andley Catherine K Andreadi Nathalie Andrieu-Abadie Alberto Anel David K Ann Shailendra Anoopkumar-Dukie Manuela Antonioli Hiroshi Aoki Nadezda Apostolova Saveria Aquila Katia Aquilano Koichi Araki Eli Arama Agustin Aranda Jun Araya Alexandre Arcaro Esperanza Arias Hirokazu Arimoto Aileen R Ariosa Jane L Armstrong Thierry Arnould Ivica Arsov Katsuhiko Asanuma Valerie Askanas Eric Asselin Ryuichiro Atarashi Sally S Atherton Julie D Atkin Laura D Attardi Patrick Auberger Georg Auburger Laure Aurelian Riccardo Autelli Laura Avagliano Maria Laura Avantaggiati Limor Avrahami Suresh Awale Neelam Azad Tiziana Bachetti Jonathan M Backer Dong-Hun Bae Jae-Sung Bae Ok-Nam Bae Soo Han Bae Eric H Baehrecke Seung-Hoon Baek Stephen Baghdiguian Agnieszka Bagniewska-Zadworna Hua Bai Jie Bai Xue-Yuan Bai Yannick Bailly Kithiganahalli Narayanaswamy Balaji Walter Balduini Andrea Ballabio Rena Balzan Rajkumar Banerjee Gábor Bánhegyi Haijun Bao Benoit Barbeau Maria D Barrachina Esther Barreiro Bonnie Bartel Alberto Bartolomé Diane C Bassham Maria Teresa Bassi Robert C Bast Alakananda Basu Maria Teresa Batista Henri Batoko Maurizio Battino Kyle Bauckman Bradley L Baumgarner K Ulrich Bayer Rupert Beale Jean-François Beaulieu George R Beck Christoph Becker J David Beckham Pierre-André Bédard Patrick J Bednarski Thomas J Begley Christian Behl Christian Behrends Georg Mn Behrens Kevin E Behrns Eloy Bejarano Amine Belaid Francesca Belleudi Giovanni Bénard Guy Berchem Daniele Bergamaschi Matteo Bergami Ben Berkhout Laura Berliocchi Amélie Bernard Monique Bernard Francesca Bernassola Anne Bertolotti Amanda S Bess Sébastien Besteiro Saverio Bettuzzi Savita Bhalla Shalmoli Bhattacharyya Sujit K Bhutia Caroline Biagosch Michele Wolfe Bianchi Martine Biard-Piechaczyk Viktor Billes Claudia Bincoletto Baris Bingol Sara W Bird Marc Bitoun Ivana Bjedov Craig Blackstone Lionel Blanc Guillermo A Blanco Heidi Kiil Blomhoff Emilio Boada-Romero Stefan Böckler Marianne Boes Kathleen Boesze-Battaglia Lawrence H Boise Alessandra Bolino Andrea Boman Paolo Bonaldo Matteo Bordi Jürgen Bosch Luis M Botana Joelle Botti German Bou Marina Bouché Marion Bouchecareilh Marie-Josée Boucher Michael E Boulton Sebastien G Bouret Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan Brady Vania Mm Braga Claudio Brancolini Gerhard H Braus José M Bravo-San Pedro Lisa A Brennan Emery H Bresnick Patrick Brest Dave Bridges Marie-Agnès Bringer Marisa Brini Glauber C Brito Bertha Brodin Paul S Brookes Eric J Brown Karen Brown Hal E Broxmeyer Alain Bruhat Patricia Chakur Brum John H Brumell Nicola Brunetti-Pierri Robert J Bryson-Richardson Shilpa Buch Alastair M Buchan Hikmet Budak Dmitry V Bulavin Scott J Bultman Geert Bultynck Vladimir Bumbasirevic Yan Burelle Robert E Burke Margit Burmeister Peter Bütikofer Laura Caberlotto Ken Cadwell Monika Cahova Dongsheng Cai Jingjing Cai Qian Cai Sara Calatayud Nadine Camougrand Michelangelo Campanella Grant R Campbell Matthew Campbell Silvia Campello Robin Candau Isabella Caniggia Lavinia Cantoni Lizhi Cao Allan B Caplan Michele Caraglia Claudio Cardinali Sandra Morais Cardoso Jennifer S Carew Laura A Carleton Cathleen R Carlin Silvia Carloni Sven R Carlsson Didac Carmona-Gutierrez Leticia Am Carneiro Oliana Carnevali Serena Carra Alice Carrier Bernadette Carroll Caty Casas Josefina Casas Giuliana Cassinelli Perrine Castets Susana Castro-Obregon Gabriella Cavallini Isabella Ceccherini Francesco Cecconi Arthur I Cederbaum Valentín Ceña Simone Cenci Claudia Cerella Davide Cervia Silvia Cetrullo Hassan Chaachouay Han-Jung Chae Andrei S Chagin Chee-Yin Chai Gopal Chakrabarti Georgios Chamilos Edmond Yw Chan Matthew Tv Chan Dhyan Chandra Pallavi Chandra Chih-Peng Chang Raymond Chuen-Chung Chang Ta Yuan Chang John C Chatham Saurabh Chatterjee Santosh Chauhan Yongsheng Che Michael E Cheetham Rajkumar Cheluvappa Chun-Jung Chen Gang Chen Guang-Chao Chen Guoqiang Chen Hongzhuan Chen Jeff W Chen Jian-Kang Chen Min Chen Mingzhou Chen Peiwen Chen Qi Chen Quan Chen Shang-Der Chen Si Chen Steve S-L Chen Wei Chen Wei-Jung Chen Wen Qiang Chen Wenli Chen Xiangmei Chen Yau-Hung Chen Ye-Guang Chen Yin Chen Yingyu Chen Yongshun Chen Yu-Jen Chen Yue-Qin Chen Yujie Chen Zhen Chen Zhong Chen Alan Cheng Christopher Hk Cheng Hua Cheng Heesun Cheong Sara Cherry Jason Chesney Chun Hei Antonio Cheung Eric Chevet Hsiang Cheng Chi Sung-Gil Chi Fulvio Chiacchiera Hui-Ling Chiang Roberto Chiarelli Mario Chiariello Marcello Chieppa Lih-Shen Chin Mario Chiong Gigi Nc Chiu Dong-Hyung Cho Ssang-Goo Cho William C Cho Yong-Yeon Cho Young-Seok Cho Augustine Mk Choi Eui-Ju Choi Eun-Kyoung Choi Jayoung Choi Mary E Choi Seung-Il Choi Tsui-Fen Chou Salem Chouaib Divaker Choubey Vinay Choubey Kuan-Chih Chow Kamal Chowdhury Charleen T Chu Tsung-Hsien Chuang Taehoon Chun Hyewon Chung Taijoon Chung Yuen-Li Chung Yong-Joon Chwae Valentina Cianfanelli Roberto Ciarcia Iwona A Ciechomska Maria Rosa Ciriolo Mara Cirone Sofie Claerhout Michael J Clague Joan Clària Peter Gh Clarke Robert Clarke Emilio Clementi Cédric Cleyrat Miriam Cnop Eliana M Coccia Tiziana Cocco Patrice Codogno Jörn Coers Ezra Ew Cohen David Colecchia Luisa Coletto Núria S Coll Emma Colucci-Guyon Sergio Comincini Maria Condello Katherine L Cook Graham H Coombs Cynthia D Cooper J Mark Cooper Isabelle Coppens Maria Tiziana Corasaniti Marco Corazzari Ramon Corbalan Elisabeth Corcelle-Termeau Mario D Cordero Cristina Corral-Ramos Olga Corti Andrea Cossarizza Paola Costelli Safia Costes Susan L Cotman Ana Coto-Montes Sandra Cottet Eduardo Couve Lori R Covey L Ashley Cowart Jeffery S Cox Fraser P Coxon Carolyn B Coyne Mark S Cragg Rolf J Craven Tiziana Crepaldi Jose L Crespo Alfredo Criollo Valeria Crippa Maria Teresa Cruz Ana Maria Cuervo Jose M Cuezva Taixing Cui Pedro R Cutillas Mark J Czaja Maria F Czyzyk-Krzeska Ruben K Dagda Uta Dahmen Chunsun Dai Wenjie Dai Yun Dai Kevin N Dalby Luisa Dalla Valle Guillaume Dalmasso Marcello D'Amelio Markus Damme Arlette Darfeuille-Michaud Catherine Dargemont Victor M Darley-Usmar Srinivasan Dasarathy Biplab Dasgupta Srikanta Dash Crispin R Dass Hazel Marie Davey Lester M Davids David Dávila Roger J Davis Ted M Dawson Valina L Dawson Paula Daza Jackie de Belleroche Paul de Figueiredo Regina Celia Bressan Queiroz de Figueiredo José de la Fuente Luisa De Martino Antonella De Matteis Guido Ry De Meyer Angelo De Milito Mauro De Santi Wanderley de Souza Vincenzo De Tata Daniela De Zio Jayanta Debnath Reinhard Dechant Jean-Paul Decuypere Shane Deegan Benjamin Dehay Barbara Del Bello Dominic P Del Re Régis Delage-Mourroux Lea Md Delbridge Louise Deldicque Elizabeth Delorme-Axford Yizhen Deng Joern Dengjel Melanie Denizot Paul Dent Channing J Der Vojo Deretic Benoît Derrien Eric Deutsch Timothy P Devarenne Rodney J Devenish Sabrina Di Bartolomeo Nicola Di Daniele Fabio Di Domenico Alessia Di Nardo Simone Di Paola Antonio Di Pietro Livia Di Renzo Aaron DiAntonio Guillermo Díaz-Araya Ines Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Chad A Dickey Robert C Dickson Marc Diederich Paul Digard Ivan Dikic Savithrama P Dinesh-Kumar Chan Ding Wen-Xing Ding Zufeng Ding Luciana Dini Jörg Hw Distler Abhinav Diwan Mojgan Djavaheri-Mergny Kostyantyn Dmytruk Renwick Cj Dobson Volker Doetsch Karol Dokladny Svetlana Dokudovskaya Massimo Donadelli X Charlie Dong Xiaonan Dong Zheng Dong Terrence M Donohue Kelly S Doran Gabriella D'Orazi Gerald W Dorn Victor Dosenko Sami Dridi Liat Drucker Jie Du Li-Lin Du Lihuan Du André du Toit Priyamvada Dua Lei Duan Pu Duann Vikash Kumar Dubey Michael R Duchen Michel A Duchosal Helene Duez Isabelle Dugail Verónica I Dumit Mara C Duncan Elaine A Dunlop William A Dunn Nicolas Dupont Luc Dupuis Raúl V Durán Thomas M Durcan Stéphane Duvezin-Caubet Umamaheswar Duvvuri Vinay Eapen Darius Ebrahimi-Fakhari Arnaud Echard Leopold Eckhart Charles L Edelstein Aimee L Edinger Ludwig Eichinger Tobias Eisenberg Avital Eisenberg-Lerner N Tony Eissa Wafik S El-Deiry Victoria El-Khoury Zvulun Elazar Hagit Eldar-Finkelman Chris Jh Elliott Enzo Emanuele Urban Emmenegger Nikolai Engedal Anna-Mart Engelbrecht Simone Engelender Jorrit M Enserink Ralf Erdmann Jekaterina Erenpreisa Rajaraman Eri Jason L Eriksen Andreja Erman Ricardo Escalante Eeva-Liisa Eskelinen Lucile Espert Lorena Esteban-Martínez Thomas J Evans Mario Fabri Gemma Fabrias Cinzia Fabrizi Antonio Facchiano Nils J Færgeman Alberto Faggioni W Douglas Fairlie Chunhai Fan Daping Fan Jie Fan Shengyun Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Mathias Faure Francois B Favier Howard Fearnhead Massimo Federici Erkang Fei Tania C Felizardo Hua Feng Yibin Feng Yuchen Feng Thomas A Ferguson Álvaro F Fernández Maite G Fernandez-Barrena Jose C Fernandez-Checa Arsenio Fernández-López Martin E Fernandez-Zapico Olivier Feron Elisabetta Ferraro Carmen Veríssima Ferreira-Halder Laszlo Fesus Ralph Feuer Fabienne C Fiesel Eduardo C Filippi-Chiela Giuseppe Filomeni Gian Maria Fimia John H Fingert Steven Finkbeiner Toren Finkel Filomena Fiorito Paul B Fisher Marc Flajolet Flavio Flamigni Oliver Florey Salvatore Florio R Andres Floto Marco Folini Carlo Follo Edward A Fon Francesco Fornai Franco Fortunato Alessandro Fraldi Rodrigo Franco Arnaud Francois Aurélie François Lisa B Frankel Iain Dc Fraser Norbert Frey Damien G Freyssenet Christian Frezza Scott L Friedman Daniel E Frigo Dongxu Fu José M Fuentes Juan Fueyo Yoshio Fujitani Yuuki Fujiwara Mikihiro Fujiya Mitsunori Fukuda Simone Fulda Carmela Fusco Bozena Gabryel Matthias Gaestel Philippe Gailly Malgorzata Gajewska Sehamuddin Galadari Gad Galili Inmaculada Galindo Maria F Galindo Giovanna Galliciotti Lorenzo Galluzzi Luca Galluzzi Vincent Galy Noor Gammoh Sam Gandy Anand K Ganesan Swamynathan Ganesan Ian G Ganley Monique Gannagé Fen-Biao Gao Feng Gao Jian-Xin Gao Lorena García Nannig Eleonora García Véscovi Marina Garcia-Macía Carmen Garcia-Ruiz Abhishek D Garg Pramod Kumar Garg Ricardo Gargini Nils Christian Gassen Damián Gatica Evelina Gatti Julie Gavard Evripidis Gavathiotis Liang Ge Pengfei Ge Shengfang Ge Po-Wu Gean Vania Gelmetti Armando A Genazzani Jiefei Geng Pascal Genschik Lisa Gerner Jason E Gestwicki David A Gewirtz Saeid Ghavami Eric Ghigo Debabrata Ghosh Anna Maria Giammarioli Francesca Giampieri Claudia Giampietri Alexandra Giatromanolaki Derrick J Gibbings Lara Gibellini Spencer B Gibson Vanessa Ginet Antonio Giordano Flaviano Giorgini Elisa Giovannetti Stephen E Girardin Suzana Gispert Sandy Giuliano Candece L Gladson Alvaro Glavic Martin Gleave Nelly Godefroy Robert M Gogal Kuppan Gokulan Gustavo H Goldman Delia Goletti Michael S Goligorsky Aldrin V Gomes Ligia C Gomes Hernando Gomez Candelaria Gomez-Manzano Rubén Gómez-Sánchez Dawit Ap Gonçalves Ebru Goncu Qingqiu Gong Céline Gongora Carlos B Gonzalez Pedro Gonzalez-Alegre Pilar Gonzalez-Cabo Rosa Ana González-Polo Ing Swie Goping Carlos Gorbea Nikolai V Gorbunov Daphne R Goring Adrienne M Gorman Sharon M Gorski Sandro Goruppi Shino Goto-Yamada Cecilia Gotor Roberta A Gottlieb Illana Gozes Devrim Gozuacik Yacine Graba Martin Graef Giovanna E Granato Gary Dean Grant Steven Grant Giovanni Luca Gravina Douglas R Green Alexander Greenhough Michael T Greenwood Benedetto Grimaldi Frédéric Gros Charles Grose Jean-Francois Groulx Florian Gruber Paolo Grumati Tilman Grune Jun-Lin Guan Kun-Liang Guan Barbara Guerra Carlos Guillen Kailash Gulshan Jan Gunst Chuanyong Guo Lei Guo Ming Guo Wenjie Guo Xu-Guang Guo Andrea A Gust Åsa B Gustafsson Elaine Gutierrez Maximiliano G Gutierrez Ho-Shin Gwak Albert Haas James E Haber Shinji Hadano Monica Hagedorn David R Hahn Andrew J Halayko Anne Hamacher-Brady Kozo Hamada Ahmed Hamai Andrea Hamann Maho Hamasaki Isabelle Hamer Qutayba Hamid Ester M Hammond Feng Han Weidong Han James T Handa John A Hanover Malene Hansen Masaru Harada Ljubica Harhaji-Trajkovic J Wade Harper Abdel Halim Harrath Adrian L Harris James Harris Udo Hasler Peter Hasselblatt Kazuhisa Hasui Robert G Hawley Teresa S Hawley Congcong He Cynthia Y He Fengtian He Gu He Rong-Rong He Xian-Hui He You-Wen He Yu-Ying He Joan K Heath Marie-Josée Hébert Robert A Heinzen Gudmundur Vignir Helgason Michael Hensel Elizabeth P Henske Chengtao Her Paul K Herman Agustín Hernández Carlos Hernandez Sonia Hernández-Tiedra Claudio Hetz P Robin Hiesinger Katsumi Higaki Sabine Hilfiker Bradford G Hill Joseph A Hill William D Hill Keisuke Hino Daniel Hofius Paul Hofman Günter U Höglinger Jörg Höhfeld Marina K Holz Yonggeun Hong David A Hood Jeroen Jm Hoozemans Thorsten Hoppe Chin Hsu Chin-Yuan Hsu Li-Chung Hsu Dong Hu Guochang Hu Hong-Ming Hu Hongbo Hu Ming Chang Hu Yu-Chen Hu Zhuo-Wei Hu Fang Hua Ya Hua Canhua Huang Huey-Lan Huang Kuo-How Huang Kuo-Yang Huang Shile Huang Shiqian Huang Wei-Pang Huang Yi-Ran Huang Yong Huang Yunfei Huang Tobias B Huber Patricia Huebbe Won-Ki Huh Juha J Hulmi Gang Min Hur James H Hurley Zvenyslava Husak Sabah Na Hussain Salik Hussain Jung Jin Hwang Seungmin Hwang Thomas Is Hwang Atsuhiro Ichihara Yuzuru Imai Carol Imbriano Megumi Inomata Takeshi Into Valentina Iovane Juan L Iovanna Renato V Iozzo Nancy Y Ip Javier E Irazoqui Pablo Iribarren Yoshitaka Isaka Aleksandra J Isakovic Harry Ischiropoulos Jeffrey S Isenberg Mohammad Ishaq Hiroyuki Ishida Isao Ishii Jane E Ishmael Ciro Isidoro Ken-Ichi Isobe Erika Isono Shohreh Issazadeh-Navikas Koji Itahana Eisuke Itakura Andrei I Ivanov Anand Krishnan V Iyer José M Izquierdo Yotaro Izumi Valentina Izzo Marja Jäättelä Nadia Jaber Daniel John Jackson William T Jackson Tony George Jacob Thomas S Jacques Chinnaswamy Jagannath Ashish Jain Nihar Ranjan Jana Byoung Kuk Jang Alkesh Jani Bassam Janji Paulo Roberto Jannig Patric J Jansson Steve Jean Marina Jendrach Ju-Hong Jeon Niels Jessen Eui-Bae Jeung Kailiang Jia Lijun Jia Hong Jiang Hongchi Jiang Liwen Jiang Teng Jiang Xiaoyan Jiang Xuejun Jiang Xuejun Jiang Ying Jiang Yongjun Jiang Alberto Jiménez Cheng Jin Hongchuan Jin Lei Jin Meiyan Jin Shengkan Jin Umesh Kumar Jinwal Eun-Kyeong Jo Terje Johansen Daniel E Johnson Gail Vw Johnson James D Johnson Eric Jonasch Chris Jones Leo Ab Joosten Joaquin Jordan Anna-Maria Joseph Bertrand Joseph Annie M Joubert Dianwen Ju Jingfang Ju Hsueh-Fen Juan Katrin Juenemann Gábor Juhász Hye Seung Jung Jae U Jung Yong-Keun Jung Heinz Jungbluth Matthew J Justice Barry Jutten Nadeem O Kaakoush Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Bertrand Kaeffer Katarina Kågedal Alon Kahana Shingo Kajimura Or Kakhlon Manjula Kalia Dhan V Kalvakolanu Yoshiaki Kamada Konstantinos Kambas Vitaliy O Kaminskyy Harm H Kampinga Mustapha Kandouz Chanhee Kang Rui Kang Tae-Cheon Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Marc Kantorow Maria Kaparakis-Liaskos Orsolya Kapuy Vassiliki Karantza Md Razaul Karim Parimal Karmakar Arthur Kaser Susmita Kaushik Thomas Kawula A Murat Kaynar Po-Yuan Ke Zun-Ji Ke John H Kehrl Kate E Keller Jongsook Kim Kemper Anne K Kenworthy Oliver Kepp Andreas Kern Santosh Kesari David Kessel Robin Ketteler Isis do Carmo Kettelhut Bilon Khambu Muzamil Majid Khan Vinoth Km Khandelwal Sangeeta Khare Juliann G Kiang Amy A Kiger Akio Kihara Arianna L Kim Cheol Hyeon Kim Deok Ryong Kim Do-Hyung Kim Eung Kweon Kim Hye Young Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim Jin Hyoung Kim Kwang Woon Kim Michael D Kim Moon-Moo Kim Peter K Kim Seong Who Kim Soo-Youl Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Tomonori Kimura Jason S King Karla Kirkegaard Vladimir Kirkin Lorrie A Kirshenbaum Shuji Kishi Yasuo Kitajima Katsuhiko Kitamoto Yasushi Kitaoka Kaio Kitazato Rudolf A Kley Walter T Klimecki Michael Klinkenberg Jochen Klucken Helene Knævelsrud Erwin Knecht Laura Knuppertz Jiunn-Liang Ko Satoru Kobayashi Jan C Koch Christelle Koechlin-Ramonatxo Ulrich Koenig Young Ho Koh Katja Köhler Sepp D Kohlwein Masato Koike Masaaki Komatsu Eiki Kominami Dexin Kong Hee Jeong Kong Eumorphia G Konstantakou Benjamin T Kopp Tamas Korcsmaros Laura Korhonen Viktor I Korolchuk Nadya V Koshkina Yanjun Kou Michael I Koukourakis Constantinos Koumenis Attila L Kovács Tibor Kovács Werner J Kovacs Daisuke Koya Claudine Kraft Dimitri Krainc Helmut Kramer Tamara Kravic-Stevovic Wilhelm Krek Carole Kretz-Remy Roswitha Krick Malathi Krishnamurthy Janos Kriston-Vizi Guido Kroemer Michael C Kruer Rejko Kruger Nicholas T Ktistakis Kazuyuki Kuchitsu Christian Kuhn Addanki Pratap Kumar Anuj Kumar Ashok Kumar Deepak Kumar Dhiraj Kumar Rakesh Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Atsushi Kuno Sheng-Han Kuo Jeff Kuret Tino Kurz Terry Kwok Taeg Kyu Kwon Yong Tae Kwon Irene Kyrmizi Albert R La Spada Frank Lafont Tim Lahm Aparna Lakkaraju Truong Lam Trond Lamark Steve Lancel Terry H Landowski Darius J R Lane Jon D Lane Cinzia Lanzi Pierre Lapaquette Louis R Lapierre Jocelyn Laporte Johanna Laukkarinen Gordon W Laurie Sergio Lavandero Lena Lavie Matthew J LaVoie Betty Yuen Kwan Law Helen Ka-Wai Law Kelsey B Law Robert Layfield Pedro A Lazo Laurent Le Cam Karine G Le Roch Hervé Le Stunff Vijittra Leardkamolkarn Marc Lecuit Byung-Hoon Lee Che-Hsin Lee Erinna F Lee Gyun Min Lee He-Jin Lee Hsinyu Lee Jae Keun Lee Jongdae Lee Ju-Hyun Lee Jun Hee Lee Michael Lee Myung-Shik Lee Patty J Lee Sam W Lee Seung-Jae Lee Shiow-Ju Lee Stella Y Lee Sug Hyung Lee Sung Sik Lee Sung-Joon Lee Sunhee Lee Ying-Ray Lee Yong J Lee Young H Lee Christiaan Leeuwenburgh Sylvain Lefort Renaud Legouis Jinzhi Lei Qun-Ying Lei David A Leib Gil Leibowitz Istvan Lekli Stéphane D Lemaire John J Lemasters Marius K Lemberg Antoinette Lemoine Shuilong Leng Guido Lenz Paola Lenzi Lilach O Lerman Daniele Lettieri Barbato Julia I-Ju Leu Hing Y Leung Beth Levine Patrick A Lewis Frank Lezoualc'h Chi Li Faqiang Li Feng-Jun Li Jun Li Ke Li Lian Li Min Li Min Li Qiang Li Rui Li Sheng Li Wei Li Wei Li Xiaotao Li Yumin Li Jiqin Lian Chengyu Liang Qiangrong Liang Yulin Liao Joana Liberal Pawel P Liberski Pearl Lie Andrew P Lieberman Hyunjung Jade Lim Kah-Leong Lim Kyu Lim Raquel T Lima Chang-Shen Lin Chiou-Feng Lin Fang Lin Fangming Lin Fu-Cheng Lin Kui Lin Kwang-Huei Lin Pei-Hui Lin Tianwei Lin Wan-Wan Lin Yee-Shin Lin Yong Lin Rafael Linden Dan Lindholm Lisa M Lindqvist Paul Lingor Andreas Linkermann Lance A Liotta Marta M Lipinski Vitor A Lira Michael P Lisanti Paloma B Liton Bo Liu Chong Liu Chun-Feng Liu Fei Liu Hung-Jen Liu Jianxun Liu Jing-Jing Liu Jing-Lan Liu Ke Liu Leyuan Liu Liang Liu Quentin Liu Rong-Yu Liu Shiming Liu Shuwen Liu Wei Liu Xian-De Liu Xiangguo Liu Xiao-Hong Liu Xinfeng Liu Xu Liu Xueqin Liu Yang Liu Yule Liu Zexian Liu Zhe Liu Juan P Liuzzi Gérard Lizard Mila Ljujic Irfan J Lodhi Susan E Logue Bal L Lokeshwar Yun Chau Long Sagar Lonial Benjamin Loos Carlos López-Otín Cristina López-Vicario Mar Lorente Philip L Lorenzi Péter Lõrincz Marek Los Michael T Lotze Penny E Lovat Binfeng Lu Bo Lu Jiahong Lu Qing Lu She-Min Lu Shuyan Lu Yingying Lu Frédéric Luciano Shirley Luckhart John Milton Lucocq Paula Ludovico Aurelia Lugea Nicholas W Lukacs Julian J Lum Anders H Lund Honglin Luo Jia Luo Shouqing Luo Claudio Luparello Timothy Lyons Jianjie Ma Yi Ma Yong Ma Zhenyi Ma Juliano Machado Glaucia M Machado-Santelli Fernando Macian Gustavo C MacIntosh Jeffrey P MacKeigan Kay F Macleod John D MacMicking Lee Ann MacMillan-Crow Frank Madeo Muniswamy Madesh Julio Madrigal-Matute Akiko Maeda Tatsuya Maeda Gustavo Maegawa Emilia Maellaro Hannelore Maes Marta Magariños Kenneth Maiese Tapas K Maiti Luigi Maiuri Maria Chiara Maiuri Carl G Maki Roland Malli Walter Malorni Alina Maloyan Fathia Mami-Chouaib Na Man Joseph D Mancias Eva-Maria Mandelkow Michael A Mandell Angelo A Manfredi Serge N Manié Claudia Manzoni Kai Mao Zixu Mao Zong-Wan Mao Philippe Marambaud Anna Maria Marconi Zvonimir Marelja Gabriella Marfe Marta Margeta Eva Margittai Muriel Mari Francesca V Mariani Concepcio Marin Sara Marinelli Guillermo Mariño Ivanka Markovic Rebecca Marquez Alberto M Martelli Sascha Martens Katie R Martin Seamus J Martin Shaun Martin Miguel A Martin-Acebes Paloma Martín-Sanz Camille Martinand-Mari Wim Martinet Jennifer Martinez Nuria Martinez-Lopez Ubaldo Martinez-Outschoorn Moisés Martínez-Velázquez Marta Martinez-Vicente Waleska Kerllen Martins Hirosato Mashima James A Mastrianni Giuseppe Matarese Paola Matarrese Roberto Mateo Satoaki Matoba Naomichi Matsumoto Takehiko Matsushita Akira Matsuura Takeshi Matsuzawa Mark P Mattson Soledad Matus Norma Maugeri Caroline Mauvezin Andreas Mayer Dusica Maysinger Guillermo D Mazzolini Mary Kate McBrayer Kimberly McCall Craig McCormick Gerald M McInerney Skye C McIver Sharon McKenna John J McMahon Iain A McNeish Fatima Mechta-Grigoriou Jan Paul Medema Diego L Medina Klara Megyeri Maryam Mehrpour Jawahar L Mehta Yide Mei Ute-Christiane Meier Alfred J Meijer Alicia Meléndez Gerry Melino Sonia Melino Edesio Jose Tenorio de Melo Maria A Mena Marc D Meneghini Javier A Menendez Regina Menezes Liesu Meng Ling-Hua Meng Songshu Meng Rossella Menghini A Sue Menko Rubem Fs Menna-Barreto Manoj B Menon Marco A Meraz-Ríos Giuseppe Merla Luciano Merlini Angelica M Merlot Andreas Meryk Stefania Meschini Joel N Meyer Man-Tian Mi Chao-Yu Miao Lucia Micale Simon Michaeli Carine Michiels Anna Rita Migliaccio Anastasia Susie Mihailidou Dalibor Mijaljica Katsuhiko Mikoshiba Enrico Milan Leonor Miller-Fleming Gordon B Mills Ian G Mills Georgia Minakaki Berge A Minassian Xiu-Fen Ming Farida Minibayeva Elena A Minina Justine D Mintern Saverio Minucci Antonio Miranda-Vizuete Claire H Mitchell Shigeki Miyamoto Keisuke Miyazawa Noboru Mizushima Katarzyna Mnich Baharia Mograbi Simin Mohseni Luis Ferreira Moita Marco Molinari Maurizio Molinari Andreas Buch Møller Bertrand Mollereau Faustino Mollinedo Marco Mongillo Martha M Monick Serena Montagnaro Craig Montell Darren J Moore Michael N Moore Rodrigo Mora-Rodriguez Paula I Moreira Etienne Morel Maria Beatrice Morelli Sandra Moreno Michael J Morgan Arnaud Moris Yuji Moriyasu Janna L Morrison Lynda A Morrison Eugenia Morselli Jorge Moscat Pope L Moseley Serge Mostowy Elisa Motori Denis Mottet Jeremy C Mottram Charbel E-H Moussa Vassiliki E Mpakou Hasan Mukhtar Jean M Mulcahy Levy Sylviane Muller Raquel Muñoz-Moreno Cristina Muñoz-Pinedo Christian Münz Maureen E Murphy James T Murray Aditya Murthy Indira U Mysorekar Ivan R Nabi Massimo Nabissi Gustavo A Nader Yukitoshi Nagahara Yoshitaka Nagai Kazuhiro Nagata Anika Nagelkerke Péter Nagy Samisubbu R Naidu Sreejayan Nair Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Gennaro Napolitano Naweed I Naqvi Roberta Nardacci Derek P Narendra Masashi Narita Anna Chiara Nascimbeni Ramesh Natarajan Luiz C Navegantes Steffan T Nawrocki Taras Y Nazarko Volodymyr Y Nazarko Thomas Neill Luca M Neri Mihai G Netea Romana T Netea-Maier Bruno M Neves Paul A Ney Ioannis P Nezis Hang Tt Nguyen Huu Phuc Nguyen Anne-Sophie Nicot Hilde Nilsen Per Nilsson Mikio Nishimura Ichizo Nishino Mireia Niso-Santano Hua Niu Ralph A Nixon Vincent Co Njar Takeshi Noda Angelika A Noegel Elsie Magdalena Nolte Erik Norberg Koenraad K Norga Sakineh Kazemi Noureini Shoji Notomi Lucia Notterpek Karin Nowikovsky Nobuyuki Nukina Thorsten Nürnberger Valerie B O'Donnell Tracey O'Donovan Peter J O'Dwyer Ina Oehme Clara L Oeste Michinaga Ogawa Besim Ogretmen Yuji Ogura Young J Oh Masaki Ohmuraya Takayuki Ohshima Rani Ojha Koji Okamoto Toshiro Okazaki F Javier Oliver Karin Ollinger Stefan Olsson Daniel P Orban Paulina Ordonez Idil Orhon Laszlo Orosz Eyleen J O'Rourke Helena Orozco Angel L Ortega Elena Ortona Laura D Osellame Junko Oshima Shigeru Oshima Heinz D Osiewacz Takanobu Otomo Kinya Otsu Jing-Hsiung James Ou Tiago F Outeiro Dong-Yun Ouyang Hongjiao Ouyang Michael Overholtzer Michelle A Ozbun P Hande Ozdinler Bulent Ozpolat Consiglia Pacelli Paolo Paganetti Guylène Page Gilles Pages Ugo Pagnini Beata Pajak Stephen C Pak Karolina Pakos-Zebrucka Nazzy Pakpour Zdena Palková Francesca Palladino Kathrin Pallauf Nicolas Pallet Marta Palmieri Søren R Paludan Camilla Palumbo Silvia Palumbo Olatz Pampliega Hongming Pan Wei Pan Theocharis Panaretakis Aseem Pandey Areti Pantazopoulou Zuzana Papackova Daniela L Papademetrio Issidora Papassideri Alessio Papini Nirmala Parajuli Julian Pardo Vrajesh V Parekh Giancarlo Parenti Jong-In Park Junsoo Park Ohkmae K Park Roy Parker Rosanna Parlato Jan B Parys Katherine R Parzych Jean-Max Pasquet Benoit Pasquier Kishore Bs Pasumarthi Daniel Patschan Cam Patterson Sophie Pattingre Scott Pattison Arnim Pause Hermann Pavenstädt Flaminia Pavone Zully Pedrozo Fernando J Peña Miguel A Peñalva Mario Pende Jianxin Peng Fabio Penna Josef M Penninger Anna Pensalfini Salvatore Pepe Gustavo Js Pereira Paulo C Pereira Verónica Pérez-de la Cruz María Esther Pérez-Pérez Diego Pérez-Rodríguez Dolores Pérez-Sala Celine Perier Andras Perl David H Perlmutter Ida Perrotta Shazib Pervaiz Maija Pesonen Jeffrey E Pessin Godefridus J Peters Morten Petersen Irina Petrache Basil J Petrof Goran Petrovski James M Phang Mauro Piacentini Marina Pierdominici Philippe Pierre Valérie Pierrefite-Carle Federico Pietrocola Felipe X Pimentel-Muiños Mario Pinar Benjamin Pineda Ronit Pinkas-Kramarski Marcello Pinti Paolo Pinton Bilal Piperdi James M Piret Leonidas C Platanias Harald W Platta Edward D Plowey Stefanie Pöggeler Marc Poirot Peter Polčic Angelo Poletti Audrey H Poon Hana Popelka Blagovesta Popova Izabela Poprawa Shibu M Poulose Joanna Poulton Scott K Powers Ted Powers Mercedes Pozuelo-Rubio Krisna Prak Reinhild Prange Mark Prescott Muriel Priault Sharon Prince Richard L Proia Tassula Proikas-Cezanne Holger Prokisch Vasilis J Promponas Karin Przyklenk Rosa Puertollano Subbiah Pugazhenthi Luigi Puglielli Aurora Pujol Julien Puyal Dohun Pyeon Xin Qi Wen-Bin Qian Zheng-Hong Qin Yu Qiu Ziwei Qu Joe Quadrilatero Frederick Quinn Nina Raben Hannah Rabinowich Flavia Radogna Michael J Ragusa Mohamed Rahmani Komal Raina Sasanka Ramanadham Rajagopal Ramesh Abdelhaq Rami Sarron Randall-Demllo Felix Randow Hai Rao V Ashutosh Rao Blake B Rasmussen Tobias M Rasse Edward A Ratovitski Pierre-Emmanuel Rautou Swapan K Ray Babak Razani Bruce H Reed Fulvio Reggiori Markus Rehm Andreas S Reichert Theo Rein David J Reiner Eric Reits Jun Ren Xingcong Ren Maurizio Renna Jane Eb Reusch Jose L Revuelta Leticia Reyes Alireza R Rezaie Robert I Richards Des R Richardson Clémence Richetta Michael A Riehle Bertrand H Rihn Yasuko Rikihisa Brigit E Riley Gerald Rimbach Maria Rita Rippo Konstantinos Ritis Federica Rizzi Elizete Rizzo Peter J Roach Jeffrey Robbins Michel Roberge Gabriela Roca Maria Carmela Roccheri Sonia Rocha Cecilia Mp Rodrigues Clara I Rodríguez Santiago Rodriguez de Cordoba Natalia Rodriguez-Muela Jeroen Roelofs Vladimir V Rogov Troy T Rohn Bärbel Rohrer Davide Romanelli Luigina Romani Patricia Silvia Romano M Isabel G Roncero Jose Luis Rosa Alicia Rosello Kirill V Rosen Philip Rosenstiel Magdalena Rost-Roszkowska Kevin A Roth Gael Roué Mustapha Rouis Kasper M Rouschop Daniel T Ruan Diego Ruano David C Rubinsztein Edmund B Rucker Assaf Rudich Emil Rudolf Ruediger Rudolf Markus A Ruegg Carmen Ruiz-Roldan Avnika Ashok Ruparelia Paola Rusmini David W Russ Gian Luigi Russo Giuseppe Russo Rossella Russo Tor Erik Rusten Victoria Ryabovol Kevin M Ryan Stefan W Ryter David M Sabatini Michael Sacher Carsten Sachse Michael N Sack Junichi Sadoshima Paul Saftig Ronit Sagi-Eisenberg Sumit Sahni Pothana Saikumar Tsunenori Saito Tatsuya Saitoh Koichi Sakakura Machiko Sakoh-Nakatogawa Yasuhito Sakuraba María Salazar-Roa Paolo Salomoni Ashok K Saluja Paul M Salvaterra Rosa Salvioli Afshin Samali Anthony Mj Sanchez José A Sánchez-Alcázar Ricardo Sanchez-Prieto Marco Sandri Miguel A Sanjuan Stefano Santaguida Laura Santambrogio Giorgio Santoni Claudia Nunes Dos Santos Shweta Saran Marco Sardiello Graeme Sargent Pallabi Sarkar Sovan Sarkar Maria Rosa Sarrias Minnie M Sarwal Chihiro Sasakawa Motoko Sasaki Miklos Sass Ken Sato Miyuki Sato Joseph Satriano Niramol Savaraj Svetlana Saveljeva Liliana Schaefer Ulrich E Schaible Michael Scharl Hermann M Schatzl Randy Schekman Wiep Scheper Alfonso Schiavi Hyman M Schipper Hana Schmeisser Jens Schmidt Ingo Schmitz Bianca E Schneider E Marion Schneider Jaime L Schneider Eric A Schon Miriam J Schönenberger Axel H Schönthal Daniel F Schorderet Bernd Schröder Sebastian Schuck Ryan J Schulze Melanie Schwarten Thomas L Schwarz Sebastiano Sciarretta Kathleen Scotto A Ivana Scovassi Robert A Screaton Mark Screen Hugo Seca Simon Sedej Laura Segatori Nava Segev Per O Seglen Jose M Seguí-Simarro Juan Segura-Aguilar Ekihiro Seki Christian Sell Iban Seiliez Clay F Semenkovich Gregg L Semenza Utpal Sen Andreas L Serra Ana Serrano-Puebla Hiromi Sesaki Takao Setoguchi Carmine Settembre John J Shacka Ayesha N Shajahan-Haq Irving M Shapiro Shweta Sharma Hua She C-K James Shen Chiung-Chyi Shen Han-Ming Shen Sanbing Shen Weili Shen Rui Sheng Xianyong Sheng Zu-Hang Sheng Trevor G Shepherd Junyan Shi Qiang Shi Qinghua Shi Yuguang Shi Shusaku Shibutani Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Dong Wook Shin Mari L Shinohara Michiko Shintani Takahiro Shintani Tetsuo Shioi Ken Shirabe Ronit Shiri-Sverdlov Orian Shirihai Gordon C Shore Chih-Wen Shu Deepak Shukla Andriy A Sibirny Valentina Sica Christina J Sigurdson Einar M Sigurdsson Puran Singh Sijwali Beata Sikorska Wilian A Silveira Sandrine Silvente-Poirot Gary A Silverman Jan Simak Thomas Simmet Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Matias Simons Anne Simonsen Rajat Singh Shivendra V Singh Shrawan K Singh Debasish Sinha Sangita Sinha Frank A Sinicrope Agnieszka Sirko Kapil Sirohi Balindiwe Jn Sishi Annie Sittler Parco M Siu Efthimios Sivridis Anna Skwarska Ruth Slack Iva Slaninová Nikolai Slavov Soraya S Smaili Keiran Sm Smalley Duncan R Smith Stefaan J Soenen Scott A Soleimanpour Anita Solhaug Kumaravel Somasundaram Jin H Son Avinash Sonawane Chunjuan Song Fuyong Song Hyun Kyu Song Ju-Xian Song Wei Song Kai Y Soo Anil K Sood Tuck Wah Soong Virawudh Soontornniyomkij Maurizio Sorice Federica Sotgia David R Soto-Pantoja Areechun Sotthibundhu Maria João Sousa Herman P Spaink Paul N Span Anne Spang Janet D Sparks Peter G Speck Stephen A Spector Claudia D Spies Wolfdieter Springer Daret St Clair Alessandra Stacchiotti Bart Staels Michael T Stang Daniel T Starczynowski Petro Starokadomskyy Clemens Steegborn John W Steele Leonidas Stefanis Joan Steffan Christine M Stellrecht Harald Stenmark Tomasz M Stepkowski Stęphan T Stern Craig Stevens Brent R Stockwell Veronika Stoka Zuzana Storchova Björn Stork Vassilis Stratoulias Dimitrios J Stravopodis Pavel Strnad Anne Marie Strohecker Anna-Lena Ström Per Stromhaug Jiri Stulik Yu-Xiong Su Zhaoliang Su Carlos S Subauste Srinivasa Subramaniam Carolyn M Sue Sang Won Suh Xinbing Sui Supawadee Sukseree David Sulzer Fang-Lin Sun Jiaren Sun Jun Sun Shi-Yong Sun Yang Sun Yi Sun Yingjie Sun Vinod Sundaramoorthy Joseph Sung Hidekazu Suzuki Kuninori Suzuki Naoki Suzuki Tadashi Suzuki Yuichiro J Suzuki Michele S Swanson Charles Swanton Karl Swärd Ghanshyam Swarup Sean T Sweeney Paul W Sylvester Zsuzsanna Szatmari Eva Szegezdi Peter W Szlosarek Heinrich Taegtmeyer Marco Tafani Emmanuel Taillebourg Stephen Wg Tait Krisztina Takacs-Vellai Yoshinori Takahashi Szabolcs Takáts Genzou Takemura Nagio Takigawa Nicholas J Talbot Elena Tamagno Jerome Tamburini Cai-Ping Tan Lan Tan Mei Lan Tan Ming Tan Yee-Joo Tan Keiji Tanaka Masaki Tanaka Daolin Tang Dingzhong Tang Guomei Tang Isei Tanida Kunikazu Tanji Bakhos A Tannous Jose A Tapia Inmaculada Tasset-Cuevas Marc Tatar Iman Tavassoly Nektarios Tavernarakis Allen Taylor Graham S Taylor Gregory A Taylor J Paul Taylor Mark J Taylor Elena V Tchetina Andrew R Tee Fatima Teixeira-Clerc Sucheta Telang Tewin Tencomnao Ba-Bie Teng Ru-Jeng Teng Faraj Terro Gianluca Tettamanti Arianne L Theiss Anne E Theron Kelly Jean Thomas Marcos P Thomé Paul G Thomes Andrew Thorburn Jeremy Thorner Thomas Thum Michael Thumm Teresa Lm Thurston Ling Tian Andreas Till Jenny Pan-Yun Ting Vladimir I Titorenko Lilach Toker Stefano Toldo Sharon A Tooze Ivan Topisirovic Maria Lyngaas Torgersen Liliana Torosantucci Alicia Torriglia Maria Rosaria Torrisi Cathy Tournier Roberto Towns Vladimir Trajkovic Leonardo H Travassos Gemma Triola Durga Nand Tripathi Daniela Trisciuoglio Rodrigo Troncoso Ioannis P Trougakos Anita C Truttmann Kuen-Jer Tsai Mario P Tschan Yi-Hsin Tseng Takayuki Tsukuba Allan Tsung Andrey S Tsvetkov Shuiping Tu Hsing-Yu Tuan Marco Tucci David A Tumbarello Boris Turk Vito Turk Robin Fb Turner Anders A Tveita Suresh C Tyagi Makoto Ubukata Yasuo Uchiyama Andrej Udelnow Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Benjamin R Underwood Christian Ungermann Rodrigo P Ureshino Ryo Ushioda Vladimir N Uversky Néstor L Uzcátegui Thomas Vaccari Maria I Vaccaro Libuše Váchová Helin Vakifahmetoglu-Norberg Rut Valdor Enza Maria Valente Francois Vallette Angela M Valverde Greet Van den Berghe Ludo Van Den Bosch Gijs R van den Brink F Gisou van der Goot Ida J van der Klei Luc Jw van der Laan Wouter G van Doorn Marjolein van Egmond Kenneth L van Golen Luc Van Kaer Menno van Lookeren Campagne Peter Vandenabeele Wim Vandenberghe Ilse Vanhorebeek Isabel Varela-Nieto M Helena Vasconcelos Radovan Vasko Demetrios G Vavvas Ignacio Vega-Naredo Guillermo Velasco Athanassios D Velentzas Panagiotis D Velentzas Tibor Vellai Edo Vellenga Mikkel Holm Vendelbo Kartik Venkatachalam Natascia Ventura Salvador Ventura Patrícia St Veras Mireille Verdier Beata G Vertessy Andrea Viale Michel Vidal Helena L A Vieira Richard D Vierstra Nadarajah Vigneswaran Neeraj Vij Miquel Vila Margarita Villar Victor H Villar Joan Villarroya Cécile Vindis Giampietro Viola Maria Teresa Viscomi Giovanni Vitale Dan T Vogl Olga V Voitsekhovskaja Clarissa von Haefen Karin von Schwarzenberg Daniel E Voth Valérie Vouret-Craviari Kristina Vuori Jatin M Vyas Christian Waeber Cheryl Lyn Walker Mark J Walker Jochen Walter Lei Wan Xiangbo Wan Bo Wang Caihong Wang Chao-Yung Wang Chengshu Wang Chenran Wang Chuangui Wang Dong Wang Fen Wang Fuxin Wang Guanghui Wang Hai-Jie Wang Haichao Wang Hong-Gang Wang Hongmin Wang Horng-Dar Wang Jing Wang Junjun Wang Mei Wang Mei-Qing Wang Pei-Yu Wang Peng Wang Richard C Wang Shuo Wang Ting-Fang Wang Xian Wang Xiao-Jia Wang Xiao-Wei Wang Xin Wang Xuejun Wang Yan Wang Yanming Wang Ying Wang Ying-Jan Wang Yipeng Wang Yu Wang Yu Tian Wang Yuqing Wang Zhi-Nong Wang Pablo Wappner Carl Ward Diane McVey Ward Gary Warnes Hirotaka Watada Yoshihisa Watanabe Kei Watase Timothy E Weaver Colin D Weekes Jiwu Wei Thomas Weide Conrad C Weihl Günther Weindl Simone Nardin Weis Longping Wen Xin Wen Yunfei Wen Benedikt Westermann Cornelia M Weyand Anthony R White Eileen White J Lindsay Whitton Alexander J Whitworth Joëlle Wiels Franziska Wild Manon E Wildenberg Tom Wileman Deepti Srinivas Wilkinson Simon Wilkinson Dieter Willbold Chris Williams Katherine Williams Peter R Williamson Konstanze F Winklhofer Steven S Witkin Stephanie E Wohlgemuth Thomas Wollert Ernst J Wolvetang Esther Wong G William Wong Richard W Wong Vincent Kam Wai Wong Elizabeth A Woodcock Karen L Wright Chunlai Wu Defeng Wu Gen Sheng Wu Jian Wu Junfang Wu Mian Wu Min Wu Shengzhou Wu William Kk Wu Yaohua Wu Zhenlong Wu Cristina Pr Xavier Ramnik J Xavier Gui-Xian Xia Tian Xia Weiliang Xia Yong Xia Hengyi Xiao Jian Xiao Shi Xiao Wuhan Xiao Chuan-Ming Xie Zhiping Xie Zhonglin Xie Maria Xilouri Yuyan Xiong Chuanshan Xu Congfeng Xu Feng Xu Haoxing Xu Hongwei Xu Jian Xu Jianzhen Xu Jinxian Xu Liang Xu Xiaolei Xu Yangqing Xu Ye Xu Zhi-Xiang Xu Ziheng Xu Yu Xue Takahiro Yamada Ai Yamamoto Koji Yamanaka Shunhei Yamashina Shigeko Yamashiro Bing Yan Bo Yan Xianghua Yan Zhen Yan Yasuo Yanagi Dun-Sheng Yang Jin-Ming Yang Liu Yang Minghua Yang Pei-Ming Yang Peixin Yang Qian Yang Wannian Yang Wei Yuan Yang Xuesong Yang Yi Yang Ying Yang Zhifen Yang Zhihong Yang Meng-Chao Yao Pamela J Yao Xiaofeng Yao Zhenyu Yao Zhiyuan Yao Linda S Yasui Mingxiang Ye Barry Yedvobnick Behzad Yeganeh Elizabeth S Yeh Patricia L Yeyati Fan Yi Long Yi Xiao-Ming Yin Calvin K Yip Yeong-Min Yoo Young Hyun Yoo Seung-Yong Yoon Ken-Ichi Yoshida Tamotsu Yoshimori Ken H Young Huixin Yu Jane J Yu Jin-Tai Yu Jun Yu Li Yu W Haung Yu Xiao-Fang Yu Zhengping Yu Junying Yuan Zhi-Min Yuan Beatrice Yjt Yue Jianbo Yue Zhenyu Yue David N Zacks Eldad Zacksenhaus Nadia Zaffaroni Tania Zaglia Zahra Zakeri Vincent Zecchini Jinsheng Zeng Min Zeng Qi Zeng Antonis S Zervos Donna D Zhang Fan Zhang Guo Zhang Guo-Chang Zhang Hao Zhang Hong Zhang Hong Zhang Hongbing Zhang Jian Zhang Jian Zhang Jiangwei Zhang Jianhua Zhang Jing-Pu Zhang Li Zhang Lin Zhang Lin Zhang Long Zhang Ming-Yong Zhang Xiangnan Zhang Xu Dong Zhang Yan Zhang Yang Zhang Yanjin Zhang Yingmei Zhang Yunjiao Zhang Mei Zhao Wei-Li Zhao Xiaonan Zhao Yan G Zhao Ying Zhao Yongchao Zhao Yu-Xia Zhao Zhendong Zhao Zhizhuang J Zhao Dexian Zheng Xi-Long Zheng Xiaoxiang Zheng Boris Zhivotovsky Qing Zhong Guang-Zhou Zhou Guofei Zhou Huiping Zhou Shu-Feng Zhou Xu-Jie Zhou Hongxin Zhu Hua Zhu Wei-Guo Zhu Wenhua Zhu Xiao-Feng Zhu Yuhua Zhu Shi-Mei Zhuang Xiaohong 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kb Emory University, School of Medicine , Department of Microbiology and Immunology , Atlanta , GA , USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835977PMC
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4933928PMC
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http://dx.doi.org/10.1523/JNEUROSCI.0628-16.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951575PMC
July 2016

Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

Parkinsonism Relat Disord 2016 06 22;27:67-73. Epub 2016 Mar 22.

Department of Neurogenetics, Kolling Institute of Medical Research, Northern Sydney Local Health District, St. Leonards, New South Wales, 2065, Australia; Sydney Medical School - Northern, University of Sydney, St. Leonards, New South Wales, 2065, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.018DOI Listing
June 2016

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

Neurology 2016 May 27;86(21):2010-5. Epub 2016 Apr 27.

From the Department of Neurogenetics (R.L.D., C.M.S.), Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, Australia; and the Department of Neurology (C.L., C.M.S), Royal North Shore Hospital, Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000002705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887120PMC
May 2016

Neurophysiological Features Of Hemiballism.

Mov Disord Clin Pract 2017 Jan-Feb;4(1):116-120. Epub 2016 May 19.

Movement Disorders Unit Department of Neurology Westmead Hospital Sydney New South Wales Australia.

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http://dx.doi.org/10.1002/mdc3.12356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353509PMC
May 2016

Olfactory impairment in older adults is associated with poorer diet quality over 5 years.

Eur J Nutr 2016 Apr 10;55(3):1081-7. Epub 2015 May 10.

Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1007/s00394-015-0921-2DOI Listing
April 2016

Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders.

Biochim Biophys Acta 2016 Jan 26;1863(1):56-63. Epub 2015 Oct 26.

ARC Centre of Excellence for Nanoscale BioPhotonics, Macquarie University, Sydney 2109, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbamcr.2015.09.030DOI Listing
January 2016

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Neurology 2016 Jan 30;86(4):391-8. Epub 2015 Dec 30.

From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000002324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776089PMC
January 2016

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

Mutations in TUBB4A and spastic paraplegia.

Mov Disord 2015 Nov 19;30(13):1857-8. Epub 2015 Oct 19.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.26444DOI Listing
November 2015

An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Mov Disord Clin Pract 2015 Sep 2;2(3):213-223. Epub 2015 Jun 2.

Departments of Neurology and Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Sydney New South Wales Australia.

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http://dx.doi.org/10.1002/mdc3.12184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353461PMC
September 2015

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 2015 Aug 24;85(8):665-74. Epub 2015 Jul 24.

From the Department of Neurology (R.C.B., K.A., A.P., S.K.P., M.B.H., C.C.W.), Washington University School of Medicine, Saint Louis, MO; Dent Neurologic Institute (L.R.), Amherst, NY; Department of Neurogenetics (C.M.S.), Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, New South Wales, Australia; Folkhalsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., B.U.), Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553032PMC
August 2015

Dietary intakes of fats, fish and nuts and olfactory impairment in older adults.

Br J Nutr 2015 Jul 16;114(2):240-7. Epub 2015 Jun 16.

Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney,Sydney,NSW2145,Australia.

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http://dx.doi.org/10.1017/S0007114515001257DOI Listing
July 2015

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.

Mov Disord 2015 May 21;30(6):770-9. Epub 2015 Apr 21.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and the University of Sydney, St. Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1002/mds.26243DOI Listing
May 2015

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Hum Mol Genet 2015 Apr 2;24(8):2297-307. Epub 2015 Jan 2.

Genetic Metabolic Disorders Research Unit, Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia,

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http://dx.doi.org/10.1093/hmg/ddu747DOI Listing
April 2015

Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.

Int J Cardiol 2015 Feb 13;181:303-10. Epub 2014 Dec 13.

Department of Cardiology, Royal Prince Alfred Hospital, NSW, Australia; Sydney Medical School, University of Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2014.12.038DOI Listing
February 2015

Parkin western blotting is useful for identification of patients with Parkin-related Parkinson's disease.

J Neurol Neurosurg Psychiatry 2014 Dec 9;85(12):1436-7. Epub 2014 May 9.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and the University of Sydney, St. Leonards, New South Wales, Australia Department of Neurology, Royal North Shore Hospital, St. Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2014-308142DOI Listing
December 2014

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.

Hum Mol Genet 2014 Jun 7;23(11):2802-15. Epub 2014 Jan 7.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and the University of Sydney, St Leonards, New South Wales 2065, Australia and.

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http://dx.doi.org/10.1093/hmg/ddt623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014187PMC
June 2014

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.

Hum Mol Genet 2014 Jun 6;23(11):2816-33. Epub 2014 Mar 6.

Diabetes and Obesity Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.

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http://dx.doi.org/10.1093/hmg/ddu099DOI Listing
June 2014

The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm.

Biochim Biophys Acta 2014 Apr 13;1840(4):1360-7. Epub 2013 Nov 13.

Department of Neurology, Royal North Shore Hospital, St. Leonards, New South Wales 2065, Australia; Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and the University of Sydney, St. Leonards, New South Wales 2065, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2013.10.040DOI Listing
April 2014

Compression Garments and Recovery from Eccentric Exercise: A (31)P-MRS Study.

J Sports Sci Med 2006 1;5(1):106-14. Epub 2006 Mar 1.

Department of Neurogenetics, Kolling Institute for Medical Research , Sydney, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818662PMC
November 2013

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

Neurology 2013 Nov 18;81(21):1819-26. Epub 2013 Oct 18.

From the Department of Neurogenetics (R.L.D., C.L., C.M.S.), Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital; and Department of Neurology (C.L., F.E.-H., C.R., M.N., C.M.S.), Royal North Shore Hospital, St. Leonards, NSW, Australia.

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http://dx.doi.org/10.1212/01.wnl.0000436068.43384.efDOI Listing
November 2013

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

J Neurol 2013 Oct 28;260(10):2516-22. Epub 2013 Jun 28.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, Pacific Hwy, St Leonards, Sydney, NSW, 2065, Australia,

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http://dx.doi.org/10.1007/s00415-013-7008-xDOI Listing
October 2013

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.

Dis Model Mech 2013 Mar 20;6(2):489-502. Epub 2012 Dec 20.

National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland 4111, Australia.

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http://dx.doi.org/10.1242/dmm.010884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597030PMC
March 2013

Phenotypic variability of parkin mutations in single kindred.

Mov Disord 2012 Sep 17;27(10):1299-303. Epub 2012 Jul 17.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1002/mds.25041DOI Listing
September 2012

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Neurobiol Aging 2012 Aug 31;33(8):1843.e1-7. Epub 2012 Jan 31.

Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S019745801100580
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http://dx.doi.org/10.1016/j.neurobiolaging.2011.12.035DOI Listing
August 2012

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.

Clin Neurophysiol 2012 Jul 21;123(7):1454-9. Epub 2011 Dec 21.

Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S138824571100876
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http://dx.doi.org/10.1016/j.clinph.2011.11.080DOI Listing
July 2012

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Mov Disord 2012 Jul 26;27(8):1034-40. Epub 2012 Jun 26.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, NSW 2145, Australia.

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http://dx.doi.org/10.1002/mds.25033DOI Listing
July 2012

The association between olfactory impairment and total mortality in older adults.

J Gerontol A Biol Sci Med Sci 2012 Feb 10;67(2):204-9. Epub 2011 Nov 10.

Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Westmead, NSW 2145, Australia.

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http://dx.doi.org/10.1093/gerona/glr165DOI Listing
February 2012

The genetics of mitochondrial disease.

Semin Neurol 2011 Nov 21;31(5):519-30. Epub 2012 Jan 21.

Neurogenetics Research Group, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Australia.

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http://dx.doi.org/10.1055/s-0031-1299790DOI Listing
November 2011

Olfactory impairment in older adults is associated with depressive symptoms and poorer quality of life scores.

Am J Geriatr Psychiatry 2011 Sep;19(9):830-4

Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Australia.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/JGP.0b013e318211c205DOI Listing
September 2011

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Hum Mutat 2011 Aug 12;32(8):956-64. Epub 2011 Jul 12.

Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.21527DOI Listing
August 2011

Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD).

Muscle Nerve 2011 Aug 23;44(2):191-6. Epub 2011 May 23.

Department of Neurology & Clinical Neurophysiology and Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, NSW, Australia.

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http://dx.doi.org/10.1002/mus.22020DOI Listing
August 2011

Mitochondrial disease: recognising more than just the tip of the iceberg.

Authors:
Carolyn M Sue

Med J Aust 2010 Aug;193(4):195-6

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August 2010

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Neuromuscul Disord 2010 May 23;20(5):330-4. Epub 2010 Mar 23.

Department of Neurology, Royal North Shore Hospital, St. Leonards, NSW 2065, Australia.

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http://dx.doi.org/10.1016/j.nmd.2010.03.002DOI Listing
May 2010

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Muscle Nerve 2010 Mar;41(3):412-5

Department of Neurology, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales 2065, Australia.

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http://dx.doi.org/10.1002/mus.21610DOI Listing
March 2010

Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community.

Mov Disord 2009 Jan;24(2):290-2

Department of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/mds.22389DOI Listing
January 2009

Mitochondrial DNA disease prevalence: still underrecognized?

Ann Neurol 2008 Oct;64(4):471; author reply 471-2

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http://dx.doi.org/10.1002/ana.21469DOI Listing
October 2008

Characterization of 2-deoxy-D-glucose uptake in fibroblast cultures derived from patients with A3243G mitochondrial DNA mutation.

Southeast Asian J Trop Med Public Health 2008 Jul;39(4):745-52

Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.

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July 2008

Mitochondrial DNA haplogroups and age-related maculopathy.

Arch Ophthalmol 2007 Sep;125(9):1235-40

Department of Neurogenetics, University of Sydney, Australia.

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http://dx.doi.org/10.1001/archopht.125.9.1235DOI Listing
September 2007

Mitochondrial DNA haplogroups and age-related hearing loss.

Arch Otolaryngol Head Neck Surg 2007 Sep;133(9):929-33

Department of Neurogenetics, Clinic 4, Royal North Shore Hospital, Reserve Road, St Leonards, New South Wales, Australia 2065.

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http://dx.doi.org/10.1001/archotol.133.9.929DOI Listing
September 2007

Population prevalence of the MELAS A3243G mutation.

Mitochondrion 2007 May 8;7(3):230-3. Epub 2007 Jan 8.

Kolling Institute, Department of Neurogenetics, University of Sydney, Clinic 4, Royal North Shore Hospital, Reserve Road, St. Leonards, NSW 2065, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S156772490700003
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http://dx.doi.org/10.1016/j.mito.2006.12.004DOI Listing
May 2007

Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients.

Eur J Appl Physiol 2007 Mar 12;99(5):541-7. Epub 2007 Jan 12.

Department of Neurogenetics, Kolling Institute for Medical Research, Sydney, Australia.

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http://dx.doi.org/10.1007/s00421-006-0372-9DOI Listing
March 2007

Aerobic exercise and muscle metabolism in patients with mitochondrial myopathy.

Muscle Nerve 2006 Apr;33(4):524-31

School of Molecular and Microbial Bioscience, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/mus.20484DOI Listing
April 2006

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

J Child Neurol 2004 Apr;19(4):258-61

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1177/088307380401900403DOI Listing
April 2004

Mitochondrial DNA abnormalities and autistic spectrum disorders.

J Pediatr 2004 Jan;144(1):81-5

Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1016/j.jpeds.2003.10.023DOI Listing
January 2004

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Pediatr Res 2003 Feb;53(2):224-30

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1203/01.PDR.0000048100.91730.6ADOI Listing
February 2003