부산대학교 도서관

Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Médéric; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Züchner, Stephan; Acosta, Maria T.; Adams, David R.; Afzali, Ben; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corner, Brian; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; D' Souza, Precilla; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neil; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Yan; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie C.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Peart, Léshon; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Carson A.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe

Annals of Clinical and Translational Neurology. April, 2024, Vol. 11 Issue 4, p1075, 1079 p.

Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Raposo J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

L. N. Townsend; H. Clarke; D. Maddison; K. M. Jones; L. Amadio; A. Jefferson; U. Chughtai; D. M. Bis; S. Züchner; N. D. Allen; W. Van der Goes van Naters; O. M. Peters; G. A. Smith

Cell Death Discovery, Vol 9, Iss 1, Pp 1-12 (2023)

Wiessner, M.; Maroofian, R.; Ni, M. Y.; Pedroni, A.; Müller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, Changlian, 1964; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, V.; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Küpper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, Ö; Dündar, N.; Uyanik, G.; Schöls, L.; Nürnberg, P.; Nürnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Bouçanova, F.; Medard, J. J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Gläser, D.; Hüttel, W.; Kruer, M. C.; Kamsteeg, E. J.; Takiyama, Y.; Züchner, S.; Baets, J.; Synofzik, M.; Schüle, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. J.; Ampatzis, K.; Pierson, T. M.; Senderek, J.

Brain : a journal of neurology. 144(5):1422-1434

Peeples SM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Blake K; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.; Sutton BLM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Konyukh M; AP-HP, Departement de Genetique Medicale, Hopital Henri Mondor, 94010 Créteil, France.; Züchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Wilrijk, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2650 Edegem, Belgium.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address: antonell@umich.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Yau WY; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Perron Institute for Neurological and Translational Science, the University of Western Australia, Nedlands, Western Australia 6009, Australia.; Sullivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; O'Connor E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Parkinson MH; Ataxia Centre, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.; Giunti P; Ataxia Centre, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.; Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada, H3A 2B4.; Danzi MC; Dr John T Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Züchner S; Dr John T Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada, H3A 2B4.; Department of Human Genetics, McGill University, Montreal, QC, Canada, H3A 2B4.; Wood NW; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Weisburd B; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Dolzhenko E; Pacific Biosciences, 1305 O'Brien Drive, Menlo Park, CA, USA.; Bennett MF; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Tanudisastro H; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Gu B; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA.; English A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Hiatt L; University of Utah, Department of Human Genetics, Salt Lake City, UT.; Mokveld T; Pacific Biosciences, 1305 O'Brien Drive, Menlo Park, CA, USA.; De Sena Brandine G; Pacific Biosciences, 1305 O'Brien Drive, Menlo Park, CA, USA.; Chiu R; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.; Kurtas NE; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jam HZ; Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA.; Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Babu ISR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Chaisson MJ; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA.; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Gymrek M; Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA.; Dashnow H; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO.; Eberle MA; Pacific Biosciences, 1305 O'Brien Drive, Menlo Park, CA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Dohrn MF; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Negri S; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.; Lassuthova P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.; Al-Ajmi A; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra 00020, Kuwait.; Feng C; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.; Fernandez-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Haddad S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Laurà M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy.; Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Sleigh JN; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London WC1E 6BT, UK.; Rebelo A; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Beijer D; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Raposo J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Saporta M; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Lauerova B; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pernice HF; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.; Achenbach P; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Schöne U; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Department of Neurology, Maria Hilf Hospital Mönchengladbach, Mönchengladbach 41063, Germany.; Alon T; Department of Neurology, Beilinson Hospital, Rabin Medical Center, Petah Tikva 4941492, Israel.; Deschauer M; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.; Cordts I; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.; Obermaier CD; Center for Genomics and Transcriptomics Tübingen and Zentrum für Humangenetik Tübingen, Tübingen 72076, Germany.; Winter N; Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany.; Creigh PD; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Sowden JE; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Rehbein T; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Ripellino P; Department of Neurology, Neurocenter of Southern Switzerland EOC, Ospedale Regionale di Lugano, Lugano 6900, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano 6900, Switzerland.; Huang J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Nadaj-Pakleza A; Service de neurologie, Centre de référence des maladies neuromusculaires, Hôpitaux Universitaires de Strasbourg, Strasbourg 67091, France.; Ross A; Clinical Genetics, NHS Grampian, Aberdeen AB15 6RE, UK.; Holt JKL; Department of Neurology, The Walton Centre, Liverpool L9 7LJ, UK.; Brennan KM; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Sukenik-Halevy R; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah Tikva 4941492, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel.; Bizaoui V; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen 14000, France.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 1827, Turkey.; Battaloglu E; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul 34342, Turkey.; Cakar A; Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.; Alrohaif H; Kuwait Medical Genetics Centre, Sabah Hospital, Kuwait City, Kuwait.; Hammans S; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK.; Kumar KR; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, The University of Sydney, Concord, NSW 2006, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St Vincent's Healthcare Clinical Campus, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.; Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul 34010, Turkey.; Amado DA; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Hahn K; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.; Valentino P; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro 88100, Italy.; Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS) 87050, Italy.; Gaetano C; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien 3710, Norway.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Peric S; Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Bolino A; Human Inherited Neuropathies Unit, Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Vita-Salute San Raffaele University, Milan 20132, Italy.; Previtali SC; Neuromuscular Repair Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Yi-Chung L; Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan.; Başak AN; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, Istanbul 34010, Turkey.; Hamed SA; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut 71515, Egypt.; Rojas-Garcia R; Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08193, Spain.; Center for Networked Biomedical Research into Rare Diseases (CIBERER), Madrid 28029, Spain.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Leuven 3000, Belgium.; Marques W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.; Sevilla T; Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research Unit, Valencia 46026, Spain.; Schlotter-Weigel B; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, München 80336, Germany.; Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.; Zhang R; Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China.; Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Züchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Beijer D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Strasse 3, Tübingen, Germany.; Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia I Estadística, Facultat, de Biologia, Universitat de Barcelona (UB), 08028, Barcelona, Spain.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Strasse 3, Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.

Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Ward KS; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.; Ptak CP; Biomolecular Nuclear Magnetic Resonance Facility, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Pashkova N; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Grider T; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.; Peterson TA; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Saveri P; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Burns J; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.; Menezes MP; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145  Australia.; Cornett K; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145  Australia.; Finkel R; Center for Experimental Neurotherapies, St. Jude Children's Research Hospital, Memphis, TN  USA.; Mukherjee-Clavin B; Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Sumner CJ; Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Greene M; Department of Neurology, Stanford University, Stanford, CA 94304, USA.; Abdul Hamid O; Department of Neurology, Nemours Children's Hospital, Orland, FL 32827, USA.; Herrmann D; Department of Neurology, University of Rochester, Rochester, NY 14618, USA.; Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; John P. Hussman Institutue for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Scherer SS; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Piper RC; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Shy ME; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Beijer D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Mengel D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Önder D; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Wilke C; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.; Traschütz A; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.; Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, Duisburg-Essen, 45147, Essen, Germany.; Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Vielhaber S; Neurologische Universitätsklinik, Universitätsklinikum Magdeburg A.ö.R., Magdeburg, Germany.; Klopstock T; Department of Neurology with Friedrich-Baur-Institute, LMU University Hospital of Ludwig-Maximilians-Universität München, 80336, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; van de Warrenburg BP; Department of Neurology, Radboud University Medical Center, 6525, Nijmegen, the Netherlands.; Silvestri G; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy; UOC Neurologia Dipartimento Neuroscienze, Fondazione Policlinico Universitario A Gemelli IRCCS, Organi Di Senso e Torace, Rome, Italy.; Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.; Wedding IM; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Fleszar Z; Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.; Harmuth F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Rieß O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schöls L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Züchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136, FL, USA.; Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136, FL, USA.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: matthis.synofzik@uni-tuebingen.de.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Dohrn MF; Medical Faculty of the RWTH Aachen University, Department of Neurology, Aachen 52074, Germany.; Pareyson D; Rare Neurological Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Pisciotta C; Rare Neurological Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, 45122 Essen, Germany.; Roos A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, 45122 Essen, Germany.; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225, Düsseldorf, Germany.; Fabrizi GM; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, 37134 Verona, Italy.; Cakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Xu IRL; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Danzi MC; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Ruiz A; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Raposo J; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; De Jesus YA; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square, London, UK.; Cortese A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square, London, UK.; Department of Brain and Behaviour Sciences, University of Pavia, Pavia, Italy.; Shy ME; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.; Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Herrmann DN; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.; Fridman V; Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Saporta M; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.; Seyedsadjadi R; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Stojkovic T; APHP, Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, Paris, France.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium.; Patel P; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Feely S; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.; Rebelo AP; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Dohrn MF; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Hengel H; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Hannan SB; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Reich S; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Beijer D; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Roller J; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Gilsbach BK; Functional Neuroproteomics and Translational Biomarkers in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Gloeckner CJ; Functional Neuroproteomics and Translational Biomarkers in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Greene D; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen 45147, Germany.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen 45122, Germany.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol BS8 1TD, UK.; O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; Nemeth AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.; Lundberg J; Department of Pediatrics, Medical Genetics & Genomics, Albany Medical Center, Albany, NY 12208, USA.; Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Bruel AL; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon 21000, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon 21070, France.; Delanne J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon 21000, France.; Centre de référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon 21000, France.; Deconinck T; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem 2650, Belgium.; Baets J; Faculty of Medicine and Health Sciences, Translational Neurosciences and Institute Born Bunge, University of Antwerp, Antwerp 2610, Belgium.; Gan-Or Z; The Neuro (Montreal Neurological Institute-Hospital), Montreal, Quebec, Canada H3A 2B4.; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada H3A 0G4.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 1Y2.; Rouleau G; The Neuro (Montreal Neurological Institute-Hospital), Montreal, Quebec, Canada H3A 2B4.; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada H3A 0G4.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 1Y2.; Suchowersky O; Department of Medicine (Neurology), Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada T6G 2G3.; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada T6G 2G3.; Estiar MA; Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 1Y2.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Reich S; Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Hazan J; Center for Interdisciplinary Research in Biology (CIRB), UMR CNRS 7241/INSERM U1050, Collège de France, Paris 75231, France.; Pétursson H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Harmuth F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bauer C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Centogene GmbH, Rostock 18055, Germany.; Department of Hematology, Oncology, and Palliative Medicine, Clinic for Internal Medicine, Rostock 18055, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Lambright D; Program in Molecular Medicine, UMASS Chan Medical School, Worcester, MA 01605, USA.; Schöls L; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Synofzik M; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Smith, G.A.; Lin, T.-H.; Sheehan, A.E.; Neukomm, L.J.; Freeman, M.R.; Van der Goes van Naters, W.; Graves, H.K.; Bis-Brewer, D.M.; Züchner, S.

In: Neuron. (Neuron, 3 July 2019, 103(1):52-65.e6)

De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Ermanoska B; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Monticelli A; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Isapof A; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Armand Trousseau, APHP, Paris, France.; Cohen E; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.; Stojkovic T; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.; Hackman P; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland.; Johari M; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Palmio J; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital Tampere, Finland.; Waldrop MA; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Wexner Medical Center, Ohio State University, Columbus OH.; Meyer AP; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Nicolau S; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH.; Flanigan KM; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Wexner Medical Center, Ohio State University, Columbus OH.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.; Longman C; West Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.; McWilliam CA; West Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Verma S; Department of Pediatrics and Neurology, Emory University School of Medicine, Atlanta, GA.; Laine R; Department of Neurology, Boston Children's Hospital, Boston, MA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Bonnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.; Grider T; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA.; Shy ME; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium; URPHYM, Department of Medicine, UNamur, Namur, Belgium.; Demurger F; Service de Génétique, CHBA, Vannes, France.; Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, QLD, Australia.; Beecroft S; Pawsey Supercomputing Research Centre, Kensington, WA, Australia.; Folland C; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.; Udd B; Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital Tampere, Finland.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. Electronic address: jonathan.baets@uantwerpen.be.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Marte S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Li JC; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.; Chen JZ; Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.; Tadenev ALD; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Miers KE; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Deconinck T; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, B-2650, Belgium.; Macdonell R; Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.; Marques W Jr; Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, SP, 14051-140, Brazil.; De Jonghe P; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.; Pratt SL; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Meyer-Schuman R; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Züchner S; Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Burgess RW; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Fazal S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA.; Xu I; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA.; Kobren SN; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02155, USA.; Sunyaev S; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02155, USA.; Reuter C; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, 94305, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, 94305, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Wheeler M; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, 94305, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Dolzhenko E; Illumina Inc., San Diego, CA, 92112, USA.; Lucas F; Department of Computer Science, Delft University of Technology, Delft, The Netherlands.; Wuchty S; Department of Computer Science, University of Miami, Miami, FL, USA.; Deptartment of Biology, University of Miami, Miami, FL, USA.; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA.; Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Biomedical Research Building (BRB), Miami, FL, 33136, USA. szuchner@med.miami.edu.; Aguiar-Pulido V; Department of Computer Science, University of Miami, Miami, FL, USA.

Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.; Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.; Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.; Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.; Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.; Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.; Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.; Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.; Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.; Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain.; Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.; Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.; Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.; Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.; Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.; Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.; Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.; Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.; Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.; Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.; Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.; Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.; Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.; Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.; Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.; Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.; Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Montenegro, G; Rebelo, A; Connell, J; Allison, R; Babalini, C; D'Aloia, M; Montieri, P; Schüle, R; Ishiura, H; Price, J; Strickland, A; Gonzalez, M; Baumbach Reardon, L; Deconinck, T; Huang, J; BERNARDI, GIORGIO; Vance, J; Rogers, M; Tsuji, S; De Jonghe, P; Pericak Vance, M; Schöls, L; ORLACCHIO, ANTONIO; Reid, E; Züchner, S.

The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560