Miriam H Meisler

Miriam H Meisler

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Miriam H Meisler

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The MAP1B Binding Domain of Na1.6 Is Required for Stable Expression at the Axon Initial Segment.

J Neurosci 2019 May 26;39(22):4238-4251. Epub 2019 Mar 26.

Molecular, Cellular and Integrative Neurosciences Graduate Program, Colorado State University, Fort Collins, Colorado 80523,

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.2771-1
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http://dx.doi.org/10.1523/JNEUROSCI.2771-18.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6538857PMC
May 2019

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation.

J Cell Sci 2019 Feb 28;132(5). Epub 2019 Feb 28.

Structure and Membrane Compartments, Institut Curie, Paris Sciences & Lettres Research University, Centre National de la Recherche Scientifique, UMR144, 75005 Paris, France

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http://dx.doi.org/10.1242/jcs.229500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432708PMC
February 2019

deletion fails to rescue premature lethality in two models of sodium channel epilepsy.

Ann Clin Transl Neurol 2018 Aug 5;5(8):982-987. Epub 2018 Jul 5.

Department of Pharmacology University of Michigan Medical School Ann Arbor Michigan 48109.

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http://doi.wiley.com/10.1002/acn3.599
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http://dx.doi.org/10.1002/acn3.599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093838PMC
August 2018

Protective role of the lipid phosphatase Fig4 in the adult nervous system.

Hum Mol Genet 2018 07;27(14):2443-2453

Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA.

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https://academic.oup.com/hmg/article/27/14/2443/4983966
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http://dx.doi.org/10.1093/hmg/ddy145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030899PMC
July 2018

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of .

Ann Clin Transl Neurol 2017 12 7;4(12):859-864. Epub 2017 Nov 7.

Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Parkville Victoria 3052 Australia.

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http://dx.doi.org/10.1002/acn3.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740235PMC
December 2017

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Bone 2017 Oct 1;103:136-143. Epub 2017 Jul 1.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.06.025DOI Listing
October 2017

Loss-of-function variants of in intellectual disability without seizures.

Neurol Genet 2017 Aug 7;3(4):e170. Epub 2017 Jun 7.

Department of Human Genetics (J.L.W., Y.P., M.H.M.), University of Michigan, Ann Arbor; Department of Anesthesiology (B.S.B., M.O., M.K.P.) and Neuroscience Graduate Program (B.S.B., M.K.P.), University of Virginia, Charlottesville; Department of Medicine (A.V.), Veterans Affairs Medical Center (A.V.), and Department of Pediatrics (P.V.), Duke University, Durham, NC; and Department of Medical Genetics (M.E.M.S.), University Medical Centre Utrecht, the Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499976PMC
August 2017

Altered gene expression profile in a mouse model of SCN8A encephalopathy.

Exp Neurol 2017 Feb 9;288:134-141. Epub 2016 Nov 9.

ARL Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA; Department of Neurology, University of Arizona, Tucson, AZ 85721, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144886163035
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http://dx.doi.org/10.1016/j.expneurol.2016.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215827PMC
February 2017

Neuronal hyperexcitability in a mouse model of epileptic encephalopathy.

Proc Natl Acad Sci U S A 2017 02 13;114(9):2383-2388. Epub 2017 Feb 13.

Department of Pharmacology, University of Michigan, Ann Arbor, MI 48109;

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http://dx.doi.org/10.1073/pnas.1616821114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338511PMC
February 2017

Cardiac arrhythmia in a mouse model of sodium channel epileptic encephalopathy.

Proc Natl Acad Sci U S A 2016 Nov 26;113(45):12838-12843. Epub 2016 Oct 26.

Department of Pharmacology, University of Michigan, Ann Arbor, MI 48109;

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http://dx.doi.org/10.1073/pnas.1612746113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111690PMC
November 2016

mutation in a child presenting with seizures and developmental delays.

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001073

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a001073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111007PMC
November 2016

The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.

Epilepsia 2016 09 4;57(9):1458-66. Epub 2016 Jul 4.

Department of Anesthesiology, University of Virginia Health System, Charlottesville, Virginia, U.S.A.

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http://dx.doi.org/10.1111/epi.13461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012949PMC
September 2016

Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.

Neurol Genet 2016 Jun 11;2(3):e71. Epub 2016 May 11.

Department of Neurology (F.H., C.F.-R., B.C.C., E.L.F., S.A.G., P.K.T.) and Department of Human Genetics (J.M.J., M.H.M.), University of Michigan, Ann Arbor; Veteran Association Health System (B.C.C., P.K.T.), Ann Arbor; and National Center for Biotechnology Information (D.Z.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865132PMC
June 2016

Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics.

PLoS One 2015 7;10(8):e0134960. Epub 2015 Aug 7.

Department of Anesthesiology, University of Michigan, 7433 Medical Science Building 1, 1150, West Medical Center Drive, Ann Arbor, Michigan, United States of America; Center for Consciousness Science, University of Michigan, Ann Arbor, Michigan, United States of America; Neuroscience Graduate Program, University of Michigan, Ann Arbor, Michigan, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0134960PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529172PMC
May 2016

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

Ann Clin Transl Neurol 2016 Feb 21;3(2):114-23. Epub 2015 Dec 21.

Department of Human Genetics University of Michigan Ann Arbor Michigan.

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http://dx.doi.org/10.1002/acn3.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748308PMC
February 2016

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.

Hum Mol Genet 2016 Jan 24;25(2):340-7. Epub 2015 Nov 24.

Department of Human Genetics, Department of Neurology, University of Michigan, 4909 Buhl, Ann Arbor, MI 48109-5618, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddv480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706117PMC
January 2016

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Front Neurol 2015 15;6:104. Epub 2015 May 15.

Department of Human Genetics, University of Michigan , Ann Arbor, MI , USA.

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http://dx.doi.org/10.3389/fneur.2015.00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432670PMC
June 2015

Response.

Neuromuscul Disord 2015 Apr 29;25(4):360. Epub 2014 Dec 29.

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http://dx.doi.org/10.1016/j.nmd.2014.12.008DOI Listing
April 2015

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Neurobiol Dis 2014 Sep 27;69:117-23. Epub 2014 May 27.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124819PMC
September 2014

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscul Disord 2014 Aug 4;24(8):666-70. Epub 2014 May 4.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096049PMC
August 2014

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

Methods Enzymol 2014 ;534:245-60

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-397926-1.00014-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059992PMC
July 2014

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Neurology 2014 Mar 5;82(12):1068-75. Epub 2014 Mar 5.

From INSERM (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), U1127; Sorbonne Universités, UPMC Univ Paris 06 (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UM 75; CNRS (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UMR 7225, ICM, Paris, ICM, (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.) Paris, F-75013 Paris, France; Department of Human Genetics (G.M.L., P.A.L., C.J.F., M.H.M.), University of Michigan, Ann Arbor; Service de Neurophysiologie Clinique (B.O.A.B.), Hôpital des Spécialités, Centre Hospitalier Ibn Sina Rabat, Morocco; Genetics and Pathophysiology of Neurodevelopmental and Neuromuscular Diseases (K.P.), Cochin Institute, Paris; GenoScreen (C.H., S.F.), Lille, France; Neuroscience Department (R.G.), Children's Hospital A. Meyer, University of Florence and IRCCS Stella Maris, Pisa, Italy; Laboratoire de Neurogénétique (K.H.E.H.), Ecole Pratique des Hautes Etudes, Paris; and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962989PMC
March 2014

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a.

Genesis 2014 Feb 12;52(2):141-8. Epub 2013 Dec 12.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/dvg.22731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973152PMC
February 2014

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

Front Genet 2013 Oct 28;4:213. Epub 2013 Oct 28.

Department of Human Genetics, University of Michigan Ann Arbor, MI, USA.

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http://dx.doi.org/10.3389/fgene.2013.00213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809569PMC
October 2013

Murine Fig4 is dispensable for muscle development but required for muscle function.

Skelet Muscle 2013 Sep 1;3(1):21. Epub 2013 Sep 1.

Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/2044-5040-3-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844516PMC
September 2013

C9ORF72 expansion in a family with bipolar disorder.

Bipolar Disord 2013 May 1;15(3):326-32. Epub 2013 Apr 1.

Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-5618, USA.

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http://dx.doi.org/10.1111/bdi.12063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660726PMC
May 2013

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.

Proc Natl Acad Sci U S A 2012 Oct 9;109(43):17472-7. Epub 2012 Oct 9.

Departments of Cell and Developmental Biology, Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, and Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1203106109
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http://dx.doi.org/10.1073/pnas.1203106109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491506PMC
October 2012

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

Hum Mol Genet 2012 Aug 11;21(16):3525-34. Epub 2012 May 11.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-6518, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406753PMC
August 2012

Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P.

EMBO J 2012 Aug 27;31(16):3442-56. Epub 2012 Jul 27.

1] Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA [2] Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

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http://emboj.embopress.org/cgi/doi/10.1038/emboj.2012.200
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http://dx.doi.org/10.1038/emboj.2012.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419932PMC
August 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://dx.doi.org/10.4161/auto.19496DOI Listing
April 2012

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A.

Mol Cell Neurosci 2012 Feb 21;49(2):120-6. Epub 2011 Oct 21.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278527PMC
February 2012

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

PLoS Genet 2011 Oct 20;7(10):e1002319. Epub 2011 Oct 20.

Human Inherited Neuropathies Unit, INSPE-Institute for Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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October 2011

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

J Physiol 2010 Jun 29;588(Pt 11):1841-8. Epub 2010 Mar 29.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.

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June 2010

Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells.

J Physiol 2010 Feb;588(Pt 4):651-70

Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille, UMR 6231, CNRS, Université de la Méditerranée, CS80011, Bd Pierre Dramard, 13344 Marseille Cedex 15, France.

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February 2010

PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration.

Autophagy 2010 Jan 13;6(1):170-1. Epub 2010 Jan 13.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.4161/auto.6.1.10626DOI Listing
January 2010

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

Hum Mol Genet 2009 Dec 29;18(24):4868-78. Epub 2009 Sep 29.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.

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December 2009

Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.

Parkinsonism Relat Disord 2009 May 20;15(4):321-3. Epub 2008 Aug 20.

Department of Human Genetics, University of Michigan, 4812 Med Sci. II, 1241 Catherine Street, Ann Arbor, MI 48109-5618, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2008.06.010DOI Listing
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May 2009

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

EMBO J 2008 Dec 27;27(24):3221-34. Epub 2008 Nov 27.

Department of Cell and Developmental Biology and Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109-2216, USA.

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December 2008

A targeted deleterious allele of the splicing factor SCNM1 in the mouse.

Genetics 2008 Nov 14;180(3):1419-27. Epub 2008 Sep 14.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618, USA.

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http://dx.doi.org/10.1534/genetics.108.094227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581945PMC
November 2008

Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

J Neurosci 2008 Nov;28(46):11768-77

Department of Pharmacology, University of Washington, Seattle, Washington 98195-7280, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177942PMC
November 2008

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Brain 2008 Aug 12;131(Pt 8):1990-2001. Epub 2008 Jun 12.

Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA.

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August 2008

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

Amyotroph Lateral Scler 2008 Jun;9(3):141-8

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan48109-0618, USA.

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June 2008

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

Neurosci Lett 2008 Mar 11;433(1):65-70. Epub 2008 Jan 11.

Division of Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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March 2008

Evidence for a direct role of the disease modifier SCNM1 in splicing.

Hum Mol Genet 2007 Oct 26;16(20):2506-16. Epub 2007 Jul 26.

Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USA.

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October 2007

Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A.

Mamm Genome 2007 Oct 9;18(10):723-31. Epub 2007 Oct 9.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109-0618, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2042028PMC
October 2007

De novo exon duplication in a new allele of mouse Glra1 (spasmodic).

Genetics 2006 Dec 8;174(4):2245-7. Epub 2006 Oct 8.

Division of Neurology, Cincinnati Children's Hospital Medical Center, OH 45229-3039, and Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

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http://dx.doi.org/10.1534/genetics.106.065532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698620PMC
December 2006

Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells.

J Neurophysiol 2006 Aug 10;96(2):785-93. Epub 2006 May 10.

Dept. of Human Genetics, University of Michigan, School of Medicine, Ann Arbor, MI 48109-0618, USA.

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http://www.physiology.org/doi/10.1152/jn.01193.2005
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August 2006

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.

Nat Genet 2005 Nov 23;37(11):1213-5. Epub 2005 Oct 23.

Developmental Biology and Molecular Pathology, Bielefeld University, Germany.

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November 2005

Sacred disease secrets revealed: the genetics of human epilepsy.

Hum Mol Genet 2005 Oct;14 Spec No. 2:2491-2500

Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

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October 2005

Sacred disease secrets revealed: the genetics of human epilepsy.

Hum Mol Genet 2005 Sep 27;14(17):2491-500. Epub 2005 Jul 27.

The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.

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September 2005

Sodium channel mutations in epilepsy and other neurological disorders.

J Clin Invest 2005 Aug;115(8):2010-7

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0618, USA.

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http://www.jci.org/cgi/doi/10.1172/JCI25466
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August 2005

Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb.

Dev Dyn 2005 Jun;233(2):368-72

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA.

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June 2005

Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter.

Genomics 2005 Feb;85(2):245-57

Department of Human Genetics, University of Michigan, 4708 Medical Science II, Ann Arbor, MI 48109-0618, USA.

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http://dx.doi.org/10.1016/j.ygeno.2004.09.002DOI Listing
February 2005

The C-terminal tail of presenilin regulates Omi/HtrA2 protease activity.

J Biol Chem 2004 Oct 4;279(44):45844-54. Epub 2004 Aug 4.

Center for Apoptosis Research and the Department of Microbiology and Immunology, Kimmel Cancer Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M404940200
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October 2004

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.

Genetica 2004 Sep;122(1):37-45

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618, USA.

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http://dx.doi.org/10.1007/s10709-004-1441-9DOI Listing
September 2004

En1 and Wnt7a interact with Dkk1 during limb development in the mouse.

Dev Biol 2004 Aug;272(1):134-44

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

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http://dx.doi.org/10.1016/j.ydbio.2004.04.026DOI Listing
August 2004

Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6).

Genesis 2004 Aug;39(4):234-9

Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan 48109-0618, USA.

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http://dx.doi.org/10.1002/gene.20050DOI Listing
August 2004

Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6.

Development 2004 Jun 28;131(11):2543-52. Epub 2004 Apr 28.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618, USA.

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http://dx.doi.org/10.1242/dev.01126DOI Listing
June 2004

Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13.

Mamm Genome 2004 May;15(5):344-51

Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.

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http://dx.doi.org/10.1007/s00335-004-2332-1DOI Listing
May 2004

Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia.

Exp Neurol 2003 Dec;184(2):830-8

Department of Pharmacology and Toxicology, School of Veterinary Medicine, Freie Universität Berlin, Koserstrasse 20, 14195 Berlin, Germany.

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http://dx.doi.org/10.1016/S0014-4886(03)00290-5DOI Listing
December 2003