부산대학교 도서관

Hocquel, A.; Pellerin, D.; Mereaux, J. L.; Huin, Vincent; Hadjivassiliou, M.; Clement, G.; Villa, F.; Puisieux, S.; Frismand, S.; Wandzel, M.; Roth, V.; Wissocq, Anna; Wirth, T.; Danzi, M. C.; Quadrio, I.; Zuchner, S.; Lambert, L.; Mochel, F.; Synofzik, M.; Anheim, M.; Houlden, H.; Brice, A.; Pourie, C.; Brais, B.; Bonnet, C.; Durr, A.; Renaud, Mathilde

Journal of Neurology. 272

Kartanou, C; Mitrousias, A; Pellerin, D; Kontogeorgiou, Z; Iruzubieta, P; Dicaire, MJ; Danzi, MC; Koniari, C; Athanassopoulos, K; Panas, M; Stefanis, L; Zuchner, S; Brais, B; Houlden, H; Karadima, G; Koutsis, G

Clinical Genetics. 105:446-452

Sharma S; School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.; National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.; Nagar SD; School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.; Pemu P; Morehouse School of Medicine, Atlanta, GA, USA.; SEEC Investigators, University of Miami, Coral Gables, FL, USA.; Zuchner S; SEEC Investigators, University of Miami, Coral Gables, FL, USA.; University of Miami, Coral Gables, FL, USA.; Mariño-Ramírez L; National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.; Meller R; Morehouse School of Medicine, Atlanta, GA, USA. RMeller@msm.edu.; SEEC Investigators, University of Miami, Coral Gables, FL, USA. RMeller@msm.edu.; Jordan IK; School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA. king.jordan@biology.gatech.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Muñoz, E. ; De la Cruz-Puebla, M. ; Pellerin, D. ; Painous, C. ; Álvarez-Mora, M.I. ; Dicaire, M.-J. ; Rodríguez-Revenga, L. ; Danzi, M.C. ; Zuchner, S. ; Brais, B.

In Neurología October 2024

Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Tinker RJ; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Bivona SA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Smith CA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Locker TK; Abess Center for Ecosystem Science and Policy, University of Miami, Miami, Florida, USA.; Fernandes S; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Stoler J; Department of Geography and Sustainable Development, University of Miami, Miami, Florida, USA.; Taylor H; Cardiovascular Research Institute, Morehouse School of Medicine, Atlanta, Georgia, USA.; Zuchner S; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Opsomer, M.; Vermeersch, P.; Philip, V.; Decru, B.; Race, V.; Dohrn, M.; Zuchner, S.; Claeys, K.

Neuromuscular Disorders. 43

Kulsirichawaroj P; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Pediatric Precision Medicine Center, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Chanvanichtrakool M; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Pediatric Precision Medicine Center, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Wattanadilokchatkun P; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Pho-Iam T; Siriraj Genomics, Office of the Dean, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Limwongse C; Siriraj Genomics, Office of the Dean, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Likasitwattanakul S; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Pediatric Precision Medicine Center, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Boonyapisit K; Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Sanmaneechai O; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. oranee141@gmail.com.; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. oranee141@gmail.com.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Han J; Interdisciplinary Program of Medical Informatics, College of Medicine, Seoul National University, Seoul, Republic of Korea.; Zuchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

Elizabeth H. Jacobs; Jacquelyn Schatzman Raposo; Annarita Scardamaglia; Fowzan S. Alkuraya; Shahriar Nafissi; Henry Houlden; Stephan Zuchner; Mario A. Saporta

Stem Cell Research, Vol 81, Iss , Pp 103599- (2024)

Pablo Iruzubieta; César Augusto Pinheiro Ferreira Alves; Aisha M. Al Shamsi; Gehad ElGhazali; Maha S. Zaki; Lorenzo Pinelli; Diego Lopergolo; Bernard P.H. Cho; Amy A. Jolly; Amna Al Futaisi; Fatema Al-Amrani; Jessica Galli; Elisa Fazzi; Katarina Vulin; Francisco Barajas-Olmos; Holger Hengel; Bayan Mohammed Aljamal; Vahideh Nasr; Farhad Assarzadegan; Michele Ragno; Luigi Trojano; Naomi Meave Ojeda; Arman Çakar; Silvia Bianchi; Francesca Pescini; Anna Poggesi; Amal Al Tenalji; Majid Aziz; Rahema Mohammad; Aziza Chedrawi; Nicola De Stefano; Giovanni Zifarelli; Ludger Schöls; Tobias B. Haack; Adriana Rebelo; Stephan Zuchner; Filiz Koc; Lyn R. Griffiths; Lorena Orozco; Karla García Helmes; Meisam Babaei; Peter Bauer; Won Chan Jeong; Ehsan Ghayoor Karimiani; Miriam Schmidts; Joseph G. Gleeson; Wendy K. Chung; Fowzan Sami Alkuraya; Bita Shalbafan; Hugh S. Markus; Henry Houlden; Reza Maroofian

EBioMedicine, Vol 107, Iss , Pp 105297- (2024)

Luiz Eduardo Novis; Rodrigo S. Frezatti; David Pellerin; Pedro J. Tomaselli; Shahryar Alavi; Marcus Vinícius Della Coleta; Mariana Spitz; Marie-Josée Dicaire; Pablo Iruzubieta; José Luiz Pedroso; Orlando Barsottini; Andrea Cortese; Matt C. Danzi; Marcondes C. França; Bernard Brais; Stephan Zuchner; Henry Houlden; Salmo Raskin; Wilson Marques; Helio A. Teive

Neurol Genet

Novis, L.E.; Frezatti, R.; Pellerin, D.; Tomasseli, P.; Alavi, S.; Della Coletta, M.V.; Spitz, M.; Dicaire, M.-J.; Iruzubieta, P.; Pedroso, J.L.; Barsotini, O.; Danzi, M.; França, M., Jr.; Brais, B.; Zuchner, S.; Houlden, H.; Raskin, S.; Marques, W., Jr.; Teive, H.

Parkinsonism and Related Disorders. 122

Indelicato E; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Fleszar Z; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.; 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.; Nachbauer W; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Zuchner 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.; Traschütz A; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Amprosi M; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.; Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Synofzik M; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: 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, Miami, FL.; Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT.; Dohrn MF; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL; Department of Neurology, RWTH Aachen University Faculty of Medicine, Aachen, Germany.; Raposo J; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL.; Hiatt L; Department of Human Genetics, University of Utah, Salt Lake City, UT.; 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, Miami, FL.; Xu IRL; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD.; Usdin K; Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.; Hayward B; Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.; Kobren SN; Department of Biomedical Informatics, Harvard Medical School, Boston, MA.; Sunyaev SR; Department of Biomedical Informatics, Harvard Medical School, Boston, MA.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.; Rebelo A; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL.; Bademci G; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL.; 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, Miami, FL.; Quinlan AR; Department of Human Genetics, University of Utah, Salt Lake City, UT.; Zuchner 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, Miami, FL. Electronic address: szuchner@med.miami.edu.

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

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)

Schierbaum L; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Gonzalez Saez-Diez E; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Medical Faculty, Heidelberg University, Heidelberg, 69120, Germany.; Tam A; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Rong J; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Zubair U; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Bernardi K; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Yang K; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Quiroz V; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Zaman Z; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Saffari A; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Carty S; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Agianda HAP; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Alexandrescu S; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Eichler F; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Sveden A; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; Danzi MC; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; 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.; Zuchner S; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; 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.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, 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

Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; null, null; Rodriguez, Aixa; Bacha, Alexa; Kosikowski, Ashley; Wood, Beth; McCray, Brett; Blume, Brianna; Siskind, Carly; Sumner, Charlotte; Calabrese, Daniela; Walk, David; Vujovic, Dragan; Park, Eun; Muntoni, Francesco; Donlevy, Gabrielle; Acsadi, Gyula; Day, John; Burns, Joshua; Li, Jun; Krajewski, Karen; Eichinger, Kate; Cornett, Kayla; Mullen, Krista; Laura, Perez Quiros; Gutmann, Laurie; Barrett, Maria; Saporta, Mario; Skorupinska, Mariola; Grant, Natalie; Bray, Paula; Seyedsadjadi, Reza; Zuccarino, Riccardo; Finkel, Richard; Lewis, Richard; Shy, Rosemary R.; Yum, Sabrina; Hilbert, Sarah; Thomas, Simone; Behrens-Spraggins, Steffen; Jones, Tara; Lloyd, Thomas; Grider, Tiffany; Estilow, Tim; Fridman, Vera; Isasi, Rosario; Khan, Alaa; Laurà, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schüle, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan

Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4

Pho-Iam T; Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Kulsirichawaroj P; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Pediatric Precision Medicine Center, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Likasitwattanakul S; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Ridchuayrod N; Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; and.; Sanmaneechai O; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Limwongse C; Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; and.; Zuchner S; Department of Human Genetics, University of Miami Health System, Miami, FL.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Armirola-Ricaurte C; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Morant L; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Adant I; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, Leuven 3000, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven 3000, Belgium.; Hamed SA; Department of Neurology and Psychiatry, Assiut University Hospitals, Assiut 2074020, Egypt.; Pipis M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuropathology Department and Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Efthymiou S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Amor-Barris S; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Atkinson D; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium.; Tomic A; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Neurology Clinic, University Clinical Center of Serbia, Belgrade 11000, Serbia.; Seneca S; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels 1090, Belgium.; de Vriendt E; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Ghesquiere B; Metabolomics Expertise Center, Center for Cancer Biology, CCB-VIB, Leuven 3000, Belgium.; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, Leuven 3000, Belgium.; Hanna MG; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Lunn MP; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Milic Rasic V; Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade 11000, Serbia.; Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria.

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

Record CJ; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Grider T; Department of Neurology, University of Iowa Health Care Medical Center, 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.; Laurini C; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; 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.; Poh R; Neurogenetics Laboratory, North Thames Genomics Laboratory Hub, National Hospital for Neurology and Neurosurgery, London, UK.; Tomaselli PJ; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Frezatti RS; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Dominik N; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Grosz B; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Harms MB; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.; Weihl CC; Department of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.; Marques Júnior W; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium.; Blake JC; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Holt JK; Walton Centre for Neurology and Neurosurgery, Liverpool, UK.; Weber A; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Jacobson R; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Dineen RT; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Falzone YM; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Previtali SC; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Menezes MP; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; The Children's Hospital of Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Vucic S; Brain and Nerve Research Centre, Concord Hospital, Concord Clinical School, The University of Sydney, Sydney, New South Wales, Australia.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Shy ME; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, Iowa, USA.; Zuchner 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.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

Zhu R; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Liu L; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Estiar MA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Asayesh F; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Ahmad J; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Teferra M; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Dupre N; Neuroscience Axis, CHU de Québec, Université Laval, Québec City, Québec, Canada.; Department of Medicine, Faculty of Medicine, Université Laval, Québec City, Québec, Canada.; Dion PA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.; Suchowersky O; Department of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang-Ming University, Taipei, Taiwan.; Stevanin G; University of Bordeaux, INCIA, UMR5287, CNRS, EPHE, Bordeaux, France.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Rouleau GA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.; Gan-Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.; Department of Human Genetics, McGill University, Montreal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE