Giorgio Casari

Giorgio Casari

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Giorgio Casari

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions.

Cephalalgia 2019 Sep 28;39(10):1333-1338. Epub 2019 Mar 28.

1 Neurological Clinic, Department of Medicine, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1177/0333102419839967DOI Listing
September 2019

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics.

J Cell Sci 2018 04 9;131(7). Epub 2018 Apr 9.

Vita-Salute San Raffaele University and Neurogenomics Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano MI, Italy

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http://dx.doi.org/10.1242/jcs.213546DOI Listing
April 2018

A TRAPPC6B splicing variant associates to restless legs syndrome.

Parkinsonism Relat Disord 2016 10 18;31:135-138. Epub 2016 Aug 18.

Vita-Salute San Raffaele University and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.08.016DOI Listing
October 2016

Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2.

EMBO Mol Med 2016 08 1;8(8):967-86. Epub 2016 Aug 1.

Department of Biomedical Sciences, University of Padova, Padova, Italy CNR Institute of Neuroscience, Padova, Italy

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http://dx.doi.org/10.15252/emmm.201505944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967947PMC
August 2016

Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis.

Curr Biol 2014 Feb 30;24(4):393-403. Epub 2014 Jan 30.

Organelle Biogenesis and Motility Unit, Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, 20132 Milan, Italy. Electronic address:

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http://www.cell.com/cms/attachment/2021757279/2041606459/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S096098221400008
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http://dx.doi.org/10.1016/j.cub.2014.01.007DOI Listing
February 2014

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Ann Neurol 2014 Jan 2;75(1):77-87. Epub 2014 Jan 2.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, and Vita-Salute San Raffaele University, Milan, Italy.

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http://doi.wiley.com/10.1002/ana.24028
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http://dx.doi.org/10.1002/ana.24028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932827PMC
January 2014

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.

Neurobiol Dis 2013 Jun 4;54:12-23. Epub 2013 Mar 4.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Health Aarhus University Hospital and Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1016/j.nbd.2013.02.012DOI Listing
June 2013

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.

Hum Mol Genet 2012 Sep 7;21(17):3858-70. Epub 2012 Jun 7.

San Raffaele Scientific Institute, Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics, Milan-I, Italy.

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http://dx.doi.org/10.1093/hmg/dds214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412383PMC
September 2012

Guidelines for the use and interpretation of assays for monitoring autophagy.

Authors:
Daniel J Klionsky Fabio C Abdalla Hagai Abeliovich Robert T Abraham Abraham Acevedo-Arozena Khosrow Adeli Lotta Agholme Maria Agnello Patrizia Agostinis Julio A Aguirre-Ghiso Hyung Jun Ahn Ouardia Ait-Mohamed Slimane Ait-Si-Ali Takahiko Akematsu Shizuo Akira Hesham M Al-Younes Munir A Al-Zeer Matthew L Albert Roger L Albin Javier Alegre-Abarrategui Maria Francesca Aleo Mehrdad Alirezaei Alexandru Almasan Maylin Almonte-Becerril Atsuo Amano Ravi Amaravadi Shoba Amarnath Amal O Amer Nathalie Andrieu-Abadie Vellareddy Anantharam David K Ann Shailendra Anoopkumar-Dukie Hiroshi Aoki Nadezda Apostolova Giuseppe Arancia John P Aris Katsuhiko Asanuma Nana Y O Asare Hisashi Ashida Valerie Askanas David S Askew Patrick Auberger Misuzu Baba Steven K Backues Eric H Baehrecke Ben A Bahr Xue-Yuan Bai Yannick Bailly Robert Baiocchi Giulia Baldini Walter Balduini Andrea Ballabio Bruce A Bamber Edward T W Bampton Gábor Bánhegyi Clinton R Bartholomew Diane C Bassham Robert C Bast Henri Batoko Boon-Huat Bay Isabelle Beau Daniel M Béchet Thomas J Begley Christian Behl Christian Behrends Soumeya Bekri Bryan Bellaire Linda J Bendall Luca Benetti Laura Berliocchi Henri Bernardi Francesca Bernassola Sébastien Besteiro Ingrid Bhatia-Kissova Xiaoning Bi Martine Biard-Piechaczyk Janice S Blum Lawrence H Boise Paolo Bonaldo David L Boone Beat C Bornhauser Karina R Bortoluci Ioannis Bossis Frédéric Bost Jean-Pierre Bourquin Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan R Brady Claudio Brancolini Andreas Brech Jay E Brenman Ana Brennand Emery H Bresnick Patrick Brest Dave Bridges Molly L Bristol Paul S Brookes Eric J Brown John H Brumell Nicola Brunetti-Pierri Ulf T Brunk Dennis E Bulman Scott J Bultman Geert Bultynck Lena F Burbulla Wilfried Bursch Jonathan P Butchar Wanda Buzgariu Sergio P Bydlowski Ken Cadwell Monika Cahová Dongsheng Cai Jiyang Cai Qian Cai Bruno Calabretta Javier Calvo-Garrido Nadine Camougrand Michelangelo Campanella Jenny Campos-Salinas Eleonora Candi Lizhi Cao Allan B Caplan Simon R Carding Sandra M Cardoso Jennifer S Carew Cathleen R Carlin Virginie Carmignac Leticia A M Carneiro Serena Carra Rosario A Caruso Giorgio Casari Caty Casas Roberta Castino Eduardo Cebollero Francesco Cecconi Jean Celli Hassan Chaachouay Han-Jung Chae Chee-Yin Chai David C Chan Edmond Y Chan Raymond Chuen-Chung Chang Chi-Ming Che Ching-Chow Chen Guang-Chao Chen Guo-Qiang Chen Min Chen Quan Chen Steve S-L Chen WenLi Chen Xi Chen Xiangmei Chen Xiequn Chen Ye-Guang Chen Yingyu Chen Yongqiang Chen Yu-Jen Chen Zhixiang Chen Alan Cheng Christopher H K Cheng Yan Cheng Heesun Cheong Jae-Ho Cheong Sara Cherry Russ Chess-Williams Zelda H Cheung Eric Chevet Hui-Ling Chiang Roberto Chiarelli Tomoki Chiba Lih-Shen Chin Shih-Hwa Chiou Francis V Chisari Chi Hin Cho Dong-Hyung Cho Augustine M K Choi DooSeok Choi Kyeong Sook Choi Mary E Choi Salem Chouaib Divaker Choubey Vinay Choubey Charleen T Chu Tsung-Hsien Chuang Sheau-Huei Chueh Taehoon Chun Yong-Joon Chwae Mee-Len Chye Roberto Ciarcia Maria R Ciriolo Michael J Clague Robert S B Clark Peter G H Clarke Robert Clarke Patrice Codogno Hilary A Coller María I Colombo Sergio Comincini Maria Condello Fabrizio Condorelli Mark R Cookson Graham H Coombs Isabelle Coppens Ramon Corbalan Pascale Cossart Paola Costelli Safia Costes Ana Coto-Montes Eduardo Couve Fraser P Coxon James M Cregg José L Crespo Marianne J Cronjé Ana Maria Cuervo Joseph J Cullen Mark J Czaja Marcello D'Amelio Arlette Darfeuille-Michaud Lester M Davids Faith E Davies Massimo De Felici John F de Groot Cornelis A M de Haan Luisa De Martino Angelo De Milito Vincenzo De Tata Jayanta Debnath Alexei Degterev Benjamin Dehay Lea M D Delbridge Francesca Demarchi Yi Zhen Deng Jörn Dengjel Paul Dent Donna Denton Vojo Deretic Shyamal D Desai Rodney J Devenish Mario Di Gioacchino Gilbert Di Paolo Chiara Di Pietro Guillermo Díaz-Araya Inés Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Ivan Dikic Savithramma P Dinesh-Kumar Wen-Xing Ding Clark W Distelhorst Abhinav Diwan Mojgan Djavaheri-Mergny Svetlana Dokudovskaya Zheng Dong Frank C Dorsey Victor Dosenko James J Dowling Stephen Doxsey Marlène Dreux Mark E Drew Qiuhong Duan Michel A Duchosal Karen Duff Isabelle Dugail Madeleine Durbeej Michael Duszenko Charles L Edelstein Aimee L Edinger Gustavo Egea Ludwig Eichinger N Tony Eissa Suhendan Ekmekcioglu Wafik S El-Deiry Zvulun Elazar Mohamed Elgendy Lisa M Ellerby Kai Er Eng Anna-Mart Engelbrecht Simone Engelender Jekaterina Erenpreisa Ricardo Escalante Audrey Esclatine Eeva-Liisa Eskelinen Lucile Espert Virginia Espina Huizhou Fan Jia Fan Qi-Wen Fan Zhen Fan Shengyun Fang Yongqi Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Jean-Claude Farré Mathias Faure Marcus Fechheimer Carl G Feng Jian Feng Qili Feng Youji Feng László Fésüs Ralph Feuer Maria E Figueiredo-Pereira Gian Maria Fimia Diane C Fingar Steven Finkbeiner Toren Finkel Kim D Finley Filomena Fiorito Edward A Fisher Paul B Fisher Marc Flajolet Maria L Florez-McClure Salvatore Florio Edward A Fon Francesco Fornai Franco Fortunato Rati Fotedar Daniel H Fowler Howard S Fox Rodrigo Franco Lisa B Frankel Marc Fransen José M Fuentes Juan Fueyo Jun Fujii Kozo Fujisaki Eriko Fujita Mitsunori Fukuda Ruth H Furukawa Matthias Gaestel Philippe Gailly Malgorzata Gajewska Brigitte Galliot Vincent Galy Subramaniam Ganesh Barry Ganetzky Ian G Ganley Fen-Biao Gao George F Gao Jinming Gao Lorena Garcia Guillermo Garcia-Manero Mikel Garcia-Marcos Marjan Garmyn Andrei L Gartel Evelina Gatti Mathias Gautel Thomas R Gawriluk Matthew E Gegg Jiefei Geng Marc Germain Jason E Gestwicki David A Gewirtz Saeid Ghavami Pradipta Ghosh Anna M Giammarioli Alexandra N Giatromanolaki Spencer B Gibson Robert W Gilkerson Michael L Ginger Henry N Ginsberg Jakub Golab Michael S Goligorsky Pierre Golstein Candelaria Gomez-Manzano Ebru Goncu Céline Gongora Claudio D Gonzalez Ramon Gonzalez Cristina González-Estévez Rosa Ana González-Polo Elena Gonzalez-Rey Nikolai V Gorbunov Sharon Gorski Sandro Goruppi Roberta A Gottlieb Devrim Gozuacik Giovanna Elvira Granato Gary D Grant Kim N Green Aleš Gregorc Frédéric Gros Charles Grose Thomas W Grunt Philippe Gual Jun-Lin Guan Kun-Liang Guan Sylvie M Guichard Anna S Gukovskaya Ilya Gukovsky Jan Gunst Asa B Gustafsson Andrew J Halayko Amber N Hale Sandra K Halonen Maho Hamasaki Feng Han Ting Han Michael K Hancock Malene Hansen Hisashi Harada Masaru Harada Stefan E Hardt J Wade Harper Adrian L Harris James Harris Steven D Harris Makoto Hashimoto Jeffrey A Haspel Shin-ichiro Hayashi Lori A Hazelhurst Congcong He You-Wen He Marie-Joseé Hébert Kim A Heidenreich Miep H Helfrich Gudmundur V Helgason Elizabeth P Henske Brian Herman Paul K Herman Claudio Hetz Sabine Hilfiker Joseph A Hill Lynne J Hocking Paul Hofman Thomas G Hofmann Jörg Höhfeld Tessa L Holyoake Ming-Huang Hong David A Hood Gökhan S Hotamisligil Ewout J Houwerzijl Maria Høyer-Hansen Bingren Hu Chien-An A Hu Hong-Ming Hu Ya Hua Canhua Huang Ju Huang Shengbing Huang Wei-Pang Huang Tobias B Huber Won-Ki Huh Tai-Ho Hung Ted R Hupp Gang Min Hur James B Hurley Sabah N A Hussain Patrick J Hussey Jung Jin Hwang Seungmin Hwang Atsuhiro Ichihara Shirin Ilkhanizadeh Ken Inoki Takeshi Into Valentina Iovane Juan L Iovanna Nancy Y Ip Yoshitaka Isaka Hiroyuki Ishida Ciro Isidoro Ken-ichi Isobe Akiko Iwasaki Marta Izquierdo Yotaro Izumi Panu M Jaakkola Marja Jäättelä George R Jackson William T Jackson Bassam Janji Marina Jendrach Ju-Hong Jeon Eui-Bae Jeung Hong Jiang Hongchi Jiang Jean X Jiang Ming Jiang Qing Jiang Xuejun Jiang Xuejun Jiang Alberto Jiménez Meiyan Jin Shengkan Jin Cheol O Joe Terje Johansen Daniel E Johnson Gail V W Johnson Nicola L Jones Bertrand Joseph Suresh K Joseph Annie M Joubert Gábor Juhász Lucienne Juillerat-Jeanneret Chang Hwa Jung Yong-Keun Jung Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Motoni Kadowaki Katarina Kagedal Yoshiaki Kamada Vitaliy O Kaminskyy Harm H Kampinga Hiromitsu Kanamori Chanhee Kang Khong Bee Kang Kwang Il Kang Rui Kang Yoon-A Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Arthi Kanthasamy Vassiliki Karantza Gur P Kaushal Susmita Kaushik Yoshinori Kawazoe Po-Yuan Ke John H Kehrl Ameeta Kelekar Claus Kerkhoff David H Kessel Hany Khalil Jan A K W Kiel Amy A Kiger Akio Kihara Deok Ryong Kim Do-Hyung Kim Dong-Hou Kim Eun-Kyoung Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim John K Kim Peter K Kim Seong Who Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Jason S King Timothy J Kinsella Vladimir Kirkin Lorrie A Kirshenbaum Katsuhiko Kitamoto Kaio Kitazato Ludger Klein Walter T Klimecki Jochen Klucken Erwin Knecht Ben C B Ko Jan C Koch Hiroshi Koga Jae-Young Koh Young Ho Koh Masato Koike Masaaki Komatsu Eiki Kominami Hee Jeong Kong Wei-Jia Kong Viktor I Korolchuk Yaichiro Kotake Michael I Koukourakis Juan B Kouri Flores Attila L Kovács Claudine Kraft Dimitri Krainc Helmut Krämer Carole Kretz-Remy Anna M Krichevsky Guido Kroemer Rejko Krüger Oleg Krut Nicholas T Ktistakis Chia-Yi Kuan Roza Kucharczyk Ashok Kumar Raj Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Tino Kurz Ho Jeong Kwon Albert R La Spada Frank Lafont Trond Lamark Jacques Landry Jon D Lane Pierre Lapaquette Jocelyn F Laporte Lajos László Sergio Lavandero Josée N Lavoie Robert Layfield Pedro A Lazo Weidong Le Laurent Le Cam Daniel J Ledbetter Alvin J X Lee Byung-Wan Lee Gyun Min Lee Jongdae Lee Ju-Hyun Lee Michael Lee Myung-Shik Lee Sug Hyung Lee Christiaan Leeuwenburgh Patrick Legembre Renaud Legouis Michael Lehmann Huan-Yao Lei Qun-Ying Lei David A Leib José Leiro John J Lemasters Antoinette Lemoine Maciej S Lesniak Dina Lev Victor V Levenson Beth Levine Efrat Levy Faqiang Li Jun-Lin Li Lian Li Sheng Li Weijie Li Xue-Jun Li Yan-bo Li Yi-Ping Li Chengyu Liang Qiangrong Liang Yung-Feng Liao Pawel P Liberski Andrew Lieberman Hyunjung J Lim Kah-Leong Lim Kyu Lim Chiou-Feng Lin Fu-Cheng Lin Jian Lin Jiandie D Lin Kui Lin Wan-Wan Lin Weei-Chin Lin Yi-Ling Lin Rafael Linden Paul Lingor Jennifer Lippincott-Schwartz Michael P Lisanti Paloma B Liton Bo Liu Chun-Feng Liu Kaiyu Liu Leyuan Liu Qiong A Liu Wei Liu Young-Chau Liu Yule Liu Richard A Lockshin Chun-Nam Lok Sagar Lonial Benjamin Loos Gabriel Lopez-Berestein Carlos López-Otín Laura Lossi Michael T Lotze Peter Lőw Binfeng Lu Bingwei Lu Bo Lu Zhen Lu Frédéric Luciano Nicholas W Lukacs Anders H Lund Melinda A Lynch-Day Yong Ma Fernando Macian Jeff P MacKeigan Kay F Macleod Frank Madeo Luigi Maiuri Maria Chiara Maiuri Davide Malagoli May Christine V Malicdan Walter Malorni Na Man Eva-Maria Mandelkow Stéphen Manon Irena Manov Kai Mao Xiang Mao Zixu Mao Philippe Marambaud Daniela Marazziti Yves L Marcel Katie Marchbank Piero Marchetti Stefan J Marciniak Mateus Marcondes Mohsen Mardi Gabriella Marfe Guillermo Mariño Maria Markaki Mark R Marten Seamus J Martin Camille Martinand-Mari Wim Martinet Marta Martinez-Vicente Matilde Masini Paola Matarrese Saburo Matsuo Raffaele Matteoni Andreas Mayer Nathalie M Mazure David J McConkey Melanie J McConnell Catherine McDermott Christine McDonald Gerald M McInerney Sharon L McKenna BethAnn McLaughlin Pamela J McLean Christopher R McMaster G Angus McQuibban Alfred J Meijer Miriam H Meisler Alicia Meléndez Thomas J Melia Gerry Melino Maria A Mena Javier A Menendez Rubem F S Menna-Barreto Manoj B Menon Fiona M Menzies Carol A Mercer Adalberto Merighi Diane E Merry Stefania Meschini Christian G Meyer Thomas F Meyer Chao-Yu Miao Jun-Ying Miao Paul A M Michels Carine Michiels Dalibor Mijaljica Ana Milojkovic Saverio Minucci Clelia Miracco Cindy K Miranti Ioannis Mitroulis Keisuke Miyazawa Noboru Mizushima Baharia Mograbi Simin Mohseni Xavier Molero Bertrand Mollereau Faustino Mollinedo Takashi Momoi Iryna Monastyrska Martha M Monick Mervyn J Monteiro Michael N Moore Rodrigo Mora Kevin Moreau Paula I Moreira Yuji Moriyasu Jorge Moscat Serge Mostowy Jeremy C Mottram Tomasz Motyl Charbel E-H Moussa Sylke Müller Sylviane Muller Karl Münger Christian Münz Leon O Murphy Maureen E Murphy Antonio Musarò Indira Mysorekar Eiichiro Nagata Kazuhiro Nagata Aimable Nahimana Usha Nair Toshiyuki Nakagawa Kiichi Nakahira Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Naweed I Naqvi Derek P Narendra Masashi Narita Miguel Navarro Steffan T Nawrocki Taras Y Nazarko Andriy Nemchenko Mihai G Netea Thomas P Neufeld Paul A Ney Ioannis P Nezis Huu Phuc Nguyen Daotai Nie Ichizo Nishino Corey Nislow Ralph A Nixon Takeshi Noda Angelika A Noegel Anna Nogalska Satoru Noguchi Lucia Notterpek Ivana Novak Tomoyoshi Nozaki Nobuyuki Nukina Thorsten Nürnberger Beat Nyfeler Keisuke Obara Terry D Oberley Salvatore Oddo Michinaga Ogawa Toya Ohashi Koji Okamoto Nancy L Oleinick F Javier Oliver Laura J Olsen Stefan Olsson Onya Opota Timothy F Osborne Gary K Ostrander Kinya Otsu Jing-hsiung James Ou Mireille Ouimet Michael Overholtzer Bulent Ozpolat Paolo Paganetti Ugo Pagnini Nicolas Pallet Glen E Palmer Camilla Palumbo Tianhong Pan Theocharis Panaretakis Udai Bhan Pandey Zuzana Papackova Issidora Papassideri Irmgard Paris Junsoo Park Ohkmae K Park Jan B Parys Katherine R Parzych Susann Patschan Cam Patterson Sophie Pattingre John M Pawelek Jianxin Peng David H Perlmutter Ida Perrotta George Perry Shazib Pervaiz Matthias Peter Godefridus J Peters Morten Petersen Goran Petrovski James M Phang Mauro Piacentini Philippe Pierre Valérie Pierrefite-Carle Gérard Pierron Ronit Pinkas-Kramarski Antonio Piras Natik Piri Leonidas C Platanias Stefanie Pöggeler Marc Poirot Angelo Poletti Christian Poüs Mercedes Pozuelo-Rubio Mette Prætorius-Ibba Anil Prasad Mark Prescott Muriel Priault Nathalie Produit-Zengaffinen Ann Progulske-Fox Tassula Proikas-Cezanne Serge Przedborski Karin Przyklenk Rosa Puertollano Julien Puyal Shu-Bing Qian Liang Qin Zheng-Hong Qin Susan E Quaggin Nina Raben Hannah Rabinowich Simon W Rabkin Irfan Rahman Abdelhaq Rami Georg Ramm Glenn Randall Felix Randow V Ashutosh Rao Jeffrey C Rathmell Brinda Ravikumar Swapan K Ray Bruce H Reed John C Reed Fulvio Reggiori Anne Régnier-Vigouroux Andreas S Reichert John J Reiners Russel J Reiter Jun Ren José L Revuelta Christopher J Rhodes Konstantinos Ritis Elizete Rizzo Jeffrey Robbins Michel Roberge Hernan Roca Maria C Roccheri Stephane Rocchi H Peter Rodemann Santiago Rodríguez de Córdoba Bärbel Rohrer Igor B Roninson Kirill Rosen Magdalena M Rost-Roszkowska Mustapha Rouis Kasper M A Rouschop Francesca Rovetta Brian P Rubin David C Rubinsztein Klaus Ruckdeschel Edmund B Rucker Assaf Rudich Emil Rudolf Nelson Ruiz-Opazo Rossella Russo Tor Erik Rusten Kevin M Ryan Stefan W Ryter David M Sabatini Junichi Sadoshima Tapas Saha Tatsuya Saitoh Hiroshi Sakagami Yasuyoshi Sakai Ghasem Hoseini Salekdeh Paolo Salomoni Paul M Salvaterra Guy Salvesen Rosa Salvioli Anthony M J Sanchez José A Sánchez-Alcázar Ricardo Sánchez-Prieto Marco Sandri Uma Sankar Poonam Sansanwal Laura Santambrogio Shweta Saran Sovan Sarkar Minnie Sarwal Chihiro Sasakawa Ausra Sasnauskiene Miklós Sass Ken Sato Miyuki Sato Anthony H V Schapira Michael Scharl Hermann M Schätzl Wiep Scheper Stefano Schiaffino Claudio Schneider Marion E Schneider Regine Schneider-Stock Patricia V Schoenlein Daniel F Schorderet Christoph Schüller Gary K Schwartz Luca Scorrano Linda Sealy Per O Seglen Juan Segura-Aguilar Iban Seiliez Oleksandr Seleverstov Christian Sell Jong Bok Seo Duska Separovic Vijayasaradhi Setaluri Takao Setoguchi Carmine Settembre John J Shacka Mala Shanmugam Irving M Shapiro Eitan Shaulian Reuben J Shaw James H Shelhamer Han-Ming Shen Wei-Chiang Shen Zu-Hang Sheng Yang Shi Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Takahiro Shintani Orian S Shirihai Gordon C Shore Andriy A Sibirny Stan B Sidhu Beata Sikorska Elaine C M Silva-Zacarin Alison Simmons Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Anne Simonsen David A Sinclair Rajat Singh Debasish Sinha Frank A Sinicrope Agnieszka Sirko Parco M Siu Efthimios Sivridis Vojtech Skop Vladimir P Skulachev Ruth S Slack Soraya S Smaili Duncan R Smith Maria S Soengas Thierry Soldati Xueqin Song Anil K Sood Tuck Wah Soong Federica Sotgia Stephen A Spector Claudia D Spies Wolfdieter Springer Srinivasa M Srinivasula Leonidas Stefanis Joan S Steffan Ruediger Stendel Harald Stenmark Anastasis Stephanou Stephan T Stern Cinthya Sternberg Björn Stork Peter Strålfors Carlos S Subauste Xinbing Sui David Sulzer Jiaren Sun Shi-Yong Sun Zhi-Jun Sun Joseph J Y Sung Kuninori Suzuki Toshihiko Suzuki Michele S Swanson Charles Swanton Sean T Sweeney Lai-King Sy Gyorgy Szabadkai Ira Tabas Heinrich Taegtmeyer Marco Tafani Krisztina Takács-Vellai Yoshitaka Takano Kaoru Takegawa Genzou Takemura Fumihiko Takeshita Nicholas J Talbot Kevin S W Tan Keiji Tanaka Kozo Tanaka Daolin Tang Dingzhong Tang Isei Tanida Bakhos A Tannous Nektarios Tavernarakis Graham S Taylor Gregory A Taylor J Paul Taylor Lance S Terada Alexei Terman Gianluca Tettamanti Karin Thevissen Craig B Thompson Andrew Thorburn Michael Thumm FengFeng Tian Yuan Tian Glauco Tocchini-Valentini Aviva M Tolkovsky Yasuhiko Tomino Lars Tönges Sharon A Tooze Cathy Tournier John Tower Roberto Towns Vladimir Trajkovic Leonardo H Travassos Ting-Fen Tsai Mario P Tschan Takeshi Tsubata Allan Tsung Boris Turk Lorianne S Turner Suresh C Tyagi Yasuo Uchiyama Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Vivek K Unni Maria I Vaccaro Enza Maria Valente Greet Van den Berghe Ida J van der Klei Wouter van Doorn Linda F van Dyk Marjolein van Egmond Leo A van Grunsven Peter Vandenabeele Wim P Vandenberghe Ilse Vanhorebeek Eva C Vaquero Guillermo Velasco Tibor Vellai Jose Miguel Vicencio Richard D Vierstra Miquel Vila Cécile Vindis Giampietro Viola Maria Teresa Viscomi Olga V Voitsekhovskaja Clarissa von Haefen Marcela Votruba Keiji Wada Richard Wade-Martins Cheryl L Walker Craig M Walsh Jochen Walter Xiang-Bo Wan Aimin Wang Chenguang Wang Dawei Wang Fan Wang Fen Wang Guanghui Wang Haichao Wang Hong-Gang Wang Horng-Dar Wang Jin Wang Ke Wang Mei Wang Richard C Wang Xinglong Wang Xuejun Wang Ying-Jan Wang Yipeng Wang Zhen Wang Zhigang Charles Wang Zhinong Wang Derick G Wansink Diane M Ward Hirotaka Watada Sarah L Waters Paul Webster Lixin Wei Conrad C Weihl William A Weiss Scott M Welford Long-Ping Wen Caroline A Whitehouse J Lindsay Whitton Alexander J Whitworth Tom Wileman John W Wiley Simon Wilkinson Dieter Willbold Roger L Williams Peter R Williamson Bradly G Wouters Chenghan Wu Dao-Cheng Wu William K K Wu Andreas Wyttenbach Ramnik J Xavier Zhijun Xi Pu Xia Gengfu Xiao Zhiping Xie Zhonglin Xie Da-zhi Xu Jianzhen Xu Liang Xu Xiaolei Xu Ai Yamamoto Akitsugu Yamamoto Shunhei Yamashina Michiaki Yamashita Xianghua Yan Mitsuhiro Yanagida Dun-Sheng Yang Elizabeth Yang Jin-Ming Yang Shi Yu Yang Wannian Yang Wei Yuan Yang Zhifen Yang Meng-Chao Yao Tso-Pang Yao Behzad Yeganeh Wei-Lien Yen Jia-jing Yin Xiao-Ming Yin Ook-Joon Yoo Gyesoon Yoon Seung-Yong Yoon Tomohiro Yorimitsu Yuko Yoshikawa Tamotsu Yoshimori Kohki Yoshimoto Ho Jin You Richard J Youle Anas Younes Li Yu Long Yu Seong-Woon Yu Wai Haung Yu Zhi-Min Yuan Zhenyu Yue Cheol-Heui Yun Michisuke Yuzaki Olga Zabirnyk Elaine Silva-Zacarin David Zacks Eldad Zacksenhaus Nadia Zaffaroni Zahra Zakeri Herbert J Zeh Scott O Zeitlin Hong Zhang Hui-Ling Zhang Jianhua Zhang Jing-Pu Zhang Lin Zhang Long Zhang Ming-Yong Zhang Xu Dong Zhang Mantong Zhao Yi-Fang Zhao Ying Zhao Zhizhuang J Zhao Xiaoxiang Zheng Boris Zhivotovsky Qing Zhong Cong-Zhao Zhou Changlian Zhu Wei-Guo Zhu Xiao-Feng Zhu Xiongwei Zhu Yuangang Zhu Teresa Zoladek Wei-Xing Zong Antonio Zorzano Jürgen Zschocke Brian Zuckerbraun

Autophagy 2012 Apr;8(4):445-544

Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

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http://www.dwalab.ca/common/pdf/cdd200944a.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404883PMC
http://dx.doi.org/10.4161/auto.19496DOI Listing
April 2012

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

PLoS Genet 2011 Jun 23;7(6):e1002129. Epub 2011 Jun 23.

Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Milan, Italy.

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https://dx.plos.org/10.1371/journal.pgen.1002129
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http://dx.doi.org/10.1371/journal.pgen.1002129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121757PMC
June 2011

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease.

J Mol Neurosci 2009 Sep 25;39(1-2):235-41. Epub 2009 Mar 25.

Institute of Genetic Medicine, European Academy Bozen/Bolzano (EURAC), Affiliated Institute of the University Lübeck, Germany, Viale Druso 1, 39100, Bolzano/Bozen, Italy.

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http://dx.doi.org/10.1007/s12031-009-9193-8DOI Listing
September 2009

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

J Neurosci 2009 Jul;29(29):9244-54

Center for Genomics, Bioinformatics, and Biostatistics, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.1532-09.2
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http://dx.doi.org/10.1523/JNEUROSCI.1532-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6665556PMC
July 2009

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.

Hum Mol Genet 2009 Jun 16;18(11):2001-13. Epub 2009 Mar 16.

Division of Biochemistry and Genetics, Istituto Neurologico C. Besta, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddp124DOI Listing
June 2009

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

Authors:
Sekar Kathiresan Benjamin F Voight Shaun Purcell Kiran Musunuru Diego Ardissino Pier M Mannucci Sonia Anand James C Engert Nilesh J Samani Heribert Schunkert Jeanette Erdmann Muredach P Reilly Daniel J Rader Thomas Morgan John A Spertus Monika Stoll Domenico Girelli Pascal P McKeown Chris C Patterson David S Siscovick Christopher J O'Donnell Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz Olle Melander David Altshuler Diego Ardissino Pier Angelica Merlini Carlo Berzuini Luisa Bernardinelli Flora Peyvandi Marco Tubaro Patrizia Celli Maurizio Ferrario Raffaela Fetiveau Nicola Marziliano Giorgio Casari Michele Galli Flavio Ribichini Marco Rossi Francesco Bernardi Pietro Zonzin Alberto Piazza Pier M Mannucci Stephen M Schwartz David S Siscovick Jean Yee Yechiel Friedlander Roberto Elosua Jaume Marrugat Gavin Lucas Isaac Subirana Joan Sala Rafael Ramos Sekar Kathiresan James B Meigs Gordon Williams David M Nathan Calum A MacRae Christopher J O'Donnell Veikko Salomaa Aki S Havulinna Leena Peltonen Olle Melander Goran Berglund Benjamin F Voight Sekar Kathiresan Joel N Hirschhorn Rosanna Asselta Stefano Duga Marta Spreafico Kiran Musunuru Mark J Daly Shaun Purcell Benjamin F Voight Shaun Purcell James Nemesh Joshua M Korn Steven A McCarroll Stephen M Schwartz Jean Yee Sekar Kathiresan Gavin Lucas Isaac Subirana Roberto Elosua Aarti Surti Candace Guiducci Lauren Gianniny Daniel Mirel Melissa Parkin Noel Burtt Stacey B Gabriel Nilesh J Samani John R Thompson Peter S Braund Benjamin J Wright Anthony J Balmforth Stephen G Ball Alistair S Hall Heribert Schunkert Jeanette Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Heribert Schunkert Nilesh J Samani Jeanette Erdmann Willem Ouwehand Christian Hengstenberg Panos Deloukas Michael Scholz Francois Cambien Muredach P Reilly Mingyao Li Zhen Chen Robert Wilensky William Matthai Atif Qasim Hakon H Hakonarson Joe Devaney Mary-Susan Burnett Augusto D Pichard Kenneth M Kent Lowell Satler Joseph M Lindsay Ron Waksman Christopher W Knouff Dawn M Waterworth Max C Walker Vincent Mooser Stephen E Epstein Daniel J Rader Thomas Scheffold Klaus Berger Monika Stoll Andreas Huge Domenico Girelli Nicola Martinelli Oliviero Olivieri Roberto Corrocher Thomas Morgan John A Spertus Pascal McKeown Chris C Patterson Heribert Schunkert Erdmann Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke R König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Hilma Hólm Gudmar Thorleifsson Unnur Thorsteinsdottir Kari Stefansson James C Engert Ron Do Changchun Xie Sonia Anand Sekar Kathiresan Diego Ardissino Pier M Mannucci David Siscovick Christopher J O'Donnell Nilesh J Samani Olle Melander Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz David Altshuler

Nat Genet 2009 Mar 8;41(3):334-41. Epub 2009 Feb 8.

Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1038/ng.327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2681011PMC
March 2009

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

Mol Biol Cell 2009 Jan 12;20(2):589-99. Epub 2008 Nov 12.

Dulbecco Telethon Institute, Molecular Genetics of Renal Disorders, San Raffaele Scientific Institute, 20132 Milan, Italy.

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http://dx.doi.org/10.1091/mbc.e08-08-0876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2626557PMC
January 2009

Further evidence of genetic heterogeneity in familial essential tremor.

Parkinsonism Relat Disord 2008 20;14(1):15-8. Epub 2007 Aug 20.

Dipartimento Universitario di Neuroscienze Cliniche, University of Palermo, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2007.05.002DOI Listing
April 2008

The mitochondrial protease AFG3L2 is essential for axonal development.

J Neurosci 2008 Mar;28(11):2827-36

Human Molecular Genetics Unit, and Neuropathology Unit and Istituto di Neurologia Sperimentale, San Raffaele Scientific Institute, 20132 Milan, Italy.

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http://dx.doi.org/10.1523/JNEUROSCI.4677-07.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670688PMC
March 2008

A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

Clin J Am Soc Nephrol 2007 May 14;2(3):454-60. Epub 2007 Mar 14.

Unité Operative Nefrologia, Ospedale di Circolo e Fondazione Macchi, Varese, Italy.

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http://dx.doi.org/10.2215/CJN.02950906DOI Listing
May 2007

Defective intracellular trafficking of uromodulin mutant isoforms.

Traffic 2006 Nov 30;7(11):1567-79. Epub 2006 Sep 30.

Dulbecco Telethon Institute, DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

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http://dx.doi.org/10.1111/j.1600-0854.2006.00481.xDOI Listing
November 2006

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Eur J Hum Genet 2006 May;14(5):555-60

Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands, and Department of Neurology, Dr Lütfi Kirdar State Hospital, Maltepe, Istanbul, Turkey.

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http://dx.doi.org/10.1038/sj.ejhg.5201607DOI Listing
May 2006

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

Hum Mol Genet 2005 Nov 5;14(22):3477-92. Epub 2005 Oct 5.

Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddi377DOI Listing
November 2005

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Hum Mutat 2005 Sep;26(3):281

Laboratoire de Génétique Moléculaire, Hôpital Lariboisière AP-HP, Paris, France.

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http://dx.doi.org/10.1002/humu.9361DOI Listing
September 2005

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

Am J Kidney Dis 2004 Dec;44(6):963-86

Department of Biomedical and Surgical Sciences, Division of Nephrology, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2004.06.030DOI Listing
December 2004

Uromodulin storage diseases: clinical aspects and mechanisms.

Am J Kidney Dis 2004 Dec;44(6):987-99

Divisione di Nefrologia, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2004.08.021DOI Listing
December 2004

Genetics in restless legs syndrome.

Sleep Med 2004 May;5(3):301-4

Sleep Disorders Center, University Vita-Salute San Raffaele and Human Molecular Genetics Unit, Dibit-San Raffaele Hospital, Via Stamina d'Ancona 20, 20122 Milano, Italy.

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http://dx.doi.org/10.1016/j.sleep.2004.01.005DOI Listing
May 2004

AntiHunter: searching BLAST output for EST antisense transcripts.

Bioinformatics 2004 Mar 22;20(4):583-5. Epub 2004 Jan 22.

Istituto Scientifico H. S. Raffaele, Via Olgettina 60, 20132 Milan, Italy.

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http://dx.doi.org/10.1093/bioinformatics/btg460DOI Listing
March 2004

In search of antisense.

Trends Biochem Sci 2004 Feb;29(2):88-94

Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

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http://dx.doi.org/10.1016/j.tibs.2003.12.002DOI Listing
February 2004

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

J Nephrol 2003 May-Jun;16(3):321-8

Division and Chair of Nephrology, Spedali Civili, Brescia, Italy.

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July 2003

The genetic and molecular basis of epilepsy.

Trends Mol Med 2003 Jul;9(7):300-6

Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa 56018, Italy.

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http://dx.doi.org/10.1016/s1471-4914(03)00116-3DOI Listing
July 2003

Autosomal dominant restless legs syndrome maps on chromosome 14q.

Brain 2003 Jun;126(Pt 6):1485-92

Human Molecular Genetics Unit, Department of Neuroscience, Dibit-San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1093/brain/awg137DOI Listing
June 2003

Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate.

Diabetes 2003 Jun;52(6):1511-8

Renal Pathophysiology Laboratory, Division of Medicine, San Raffaele Scientific Institute, Via Olgettina 60, I-20132 Milan, Italy.

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http://dx.doi.org/10.2337/diabetes.52.6.1511DOI Listing
June 2003

Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome.

Diabetes 2003 May;52(5):1270-5

Diabetology, Endocrinology and Metabolic Disease Unit, Medicine Division, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.

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http://dx.doi.org/10.2337/diabetes.52.5.1270DOI Listing
May 2003

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

Nat Genet 2003 Feb 21;33(2):192-6. Epub 2003 Jan 21.

Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

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http://dx.doi.org/10.1038/ng1081DOI Listing
February 2003

Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis.

Adv Neurol 2002 ;89:433-41

Neurosciences Unit, Institute of Child Health, Great Ormond Street Hospital For Children, Wolfson Centre, London, United Kingdom.

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October 2002

The functional properties of the human ether-à-go-go-like (HELK2) K+ channel.

Eur J Neurosci 2002 Aug;16(3):415-28

Dipartimento di Biotecnologie e Bioscienze, Università di Milano-Bicocca, Piazza della Scienza 2, 20126 Milan, Italy.

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http://dx.doi.org/10.1046/j.1460-9568.2002.02079.xDOI Listing
August 2002

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Ann Neurol 2002 Aug;52(2):211-9

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ana.10278DOI Listing
August 2002