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In Lancet Neurology December 2013 12(12):1159-1169

Bromberg, Mark B ; Swoboda, Kathryn J ; Lawson, Victoria H

In Experimental Neurology 2003 184 Supplement 1:53-57

Butchbach MER; Division of Neurology, Nemours Children's Health Delaware, Wilmington, DE; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA; Department of Biological Sciences, University of Delaware, Newark, DE. Electronic address: merb@udel.edu.; Kale JJ; Department of Pediatric Genetics, University of Massachusetts Memorial Medical Health, Worcester, MA.; Simeone SD; Hospital at Beth Israel Lahey Health, Winchester Boston, MA.; Chen JYH; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Anderson RL; Department of Human Genetics, University of Chicago, Chicago, IL.; Prichina AY; Department of Human Genetics, University of Chicago, Chicago, IL.; Del Gaudio D; Department of Human Genetics, University of Chicago, Chicago, IL.; Stabley DL; Biobank and Molecular Analysis Program, Nemours Children's Health Delaware, Wilmington, DE.; Holbrook J; Biobank and Molecular Analysis Program, Nemours Children's Health Delaware, Wilmington, DE.; Culcea E; Atlas Neurology LLC, Great Falls, MO.; Ober C; Department of Human Genetics, University of Chicago, Chicago, IL.; Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.

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

Spellman RG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Ha LL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Da Silva Duarte Lepez S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Arruda EA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Rodrigues E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Swoboda KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. katswobo@gmail.com.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. katswobo@gmail.com.; Department of Neurology, Harvard Medical School, Boston, MA, USA. katswobo@gmail.com.; Alves CRR; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. calves2@mgh.harvard.edu.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. calves2@mgh.harvard.edu.; Department of Neurology, Harvard Medical School, Boston, MA, USA. calves2@mgh.harvard.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

Ha LL; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Mitra S; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Ho DT; Sean M. Healey & AMG Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Fillingham B; Sean M. Healey & AMG Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Berry JD; Sean M. Healey & AMG Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Alves CRR; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

das Neves W; Faculdade de Medicina, Instituto do Cancer do Estado de Sao Paulo ICESP, Hospital das Clínicas HCFMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.; Alves CRR; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.; School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.; Dos Santos G; Faculdade de Medicina, Instituto do Cancer do Estado de Sao Paulo ICESP, Hospital das Clínicas HCFMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.; Alves MNN; Heart Institute, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil.; Deik A; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Pierce K; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Dennis C; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Buckley L; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Clish CB; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Swoboda KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.; Brum PC; School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.; de Castro Junior G; Faculdade de Medicina, Instituto do Cancer do Estado de Sao Paulo ICESP, Hospital das Clínicas HCFMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.

Publisher: Wiley Country of Publication: England NLM ID: 0245331 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2362 (Electronic) Linking ISSN: 00142972 NLM ISO Abbreviation: Eur J Clin Invest Subsets: MEDLINE

Heinzen, Erin L; Swoboda, Kathryn J; Hitomi, Yuki; Gurrieri, Fiorella; Nicole, Sophie; de Vries, Boukje; Tiziano, F Danilo; Fontaine, Bertrand; Walley, Nicole M; Heavin, Sinéad; Panagiotakaki, Eleni; Neri, Giovanni; Koelewijn, Stephany; Kamphorst, Jessica; Geilenkirchen, Marije; Pelzer, Nadine; Laan, Laura; Haan, Joost; Ferrari, Michel; van den Maagdenberg, Arn

Nature Genetics. Sep2012, Vol. 44 Issue 9, p1030-1034. 5p. 2 Diagrams, 1 Chart, 1 Graph.

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A

Nat Med

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A

Nat Med

Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.; Hwu WL; Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.; Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Nazario AN; Division of Pulmonary Medicine, Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida, USA.; Parsons JA; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Ryan MM; Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia.; Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, Utah, USA.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.; Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.; Medical Genetics Department, Hamad Medical Corporation, Doha, Qatar.; Sansone VA; The NeMo Clinical Center, Neurorehabilitation Unit, University of Milan, Milan, Italy.; Department of Biomedical Sciences for Health, Universitàdegli Studi di Milano, Milan, Italy.; Jong YJ; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Translational Research Center of Neuromuscular Diseases, and Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Shu F; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Zhu C; Biogen, Cambridge, Massachusetts, USA.; Raynaud S; Biogen, Cambridge, Massachusetts, USA.; Lago TR; Biogen, Cambridge, Massachusetts, USA.; Paradis AD; Biogen, Cambridge, Massachusetts, USA.; Foster R; Biogen, Berkshire, UK.; Chin R; Biogen, Cambridge, Massachusetts, USA.; Berger Z; Biogen, Cambridge, Massachusetts, USA.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Magen I; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.; Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.; Aharoni S; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Yacovzada NS; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.; Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.; Tokatly Latzer I; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel.; Alves CRR; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Sagi L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel.; Fattal-Valevski A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel.; Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Katz J; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Department of Anesthesia, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Bruckheimer E; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Cardiology Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Nevo Y; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Hornstein E; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.; Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Alves CRR; School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Eichelberger EJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; das Neves W; School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.; Ribeiro MAC; Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil.; Bechara LRG; Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil.; Voltarelli VA; School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.; de Almeida NR; School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.; Hagen L; Department of Clinical and Molecular Medicine, NTNU Norwegian University of Science and Technology, Trondheim, Norway.; PROMEC Proteomics and Modomics Experimental Core, NTNU and the Central Norway Regional Health Authority, Trondheim, Norway.; Sharma A; Department of Clinical and Molecular Medicine, NTNU Norwegian University of Science and Technology, Trondheim, Norway.; PROMEC Proteomics and Modomics Experimental Core, NTNU and the Central Norway Regional Health Authority, Trondheim, Norway.; Ferreira JCB; Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil.; Swoboda KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Slupphaug G; Department of Clinical and Molecular Medicine, NTNU Norwegian University of Science and Technology, Trondheim, Norway.; PROMEC Proteomics and Modomics Experimental Core, NTNU and the Central Norway Regional Health Authority, Trondheim, Norway.; Brum PC; School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.

Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

Machacek ME; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Gogakos T; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Fletcher MC; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Lunderville KA; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Sohani AR; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1751-553X (Electronic) Linking ISSN: 17515521 NLM ISO Abbreviation: Int J Lab Hematol Subsets: MEDLINE

Bend, Eric G; Si, Yue; Stevenson, David A; Bayrak-Toydemir, Pinar; Newcomb, Tara M; Jorgensen, Erik M; Swoboda, Kathryn J

Neurology. 9/13/2016, Vol. 87 Issue 11, p1131-1139. 9p.

Alves CRR; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. calves2@mgh.harvard.edu.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. calves2@mgh.harvard.edu.; Department of Neurology, Harvard Medical School, Boston, MA, USA. calves2@mgh.harvard.edu.; Ha LL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Yaworski R; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Sutton ER; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Lazzarotto CR; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Christie KA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA.; Reilly A; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Beauvais A; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Doll RM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Molecular Biosciences/Cancer Biology Program, Heidelberg University and German Cancer Research Center (DKFZ), Heidelberg, Germany.; de la Cruz D; Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.; Program in Neuroscience, Harvard Medical School, Boston, MA, USA.; Maguire CA; Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.; Program in Neuroscience, Harvard Medical School, Boston, MA, USA.; Swoboda KJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Tsai SQ; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Kothary R; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Kleinstiver BP; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. bkleinstiver@mgh.harvard.edu.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA. bkleinstiver@mgh.harvard.edu.; Department of Pathology, Harvard Medical School, Boston, MA, USA. bkleinstiver@mgh.harvard.edu.

Publisher: Springer Nature Country of Publication: England NLM ID: 101696896 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2157-846X (Electronic) Linking ISSN: 2157846X NLM ISO Abbreviation: Nat Biomed Eng Subsets: MEDLINE

Kronn, David F.; Day-Salvatore, Debra; Hwu, Wuh Liang; Jones, Simon; Nakamura, Kimitoshi; Okuyama, Torayuki; Swoboda, Kathryn J; Kishnani, Priya S.

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Hunt, David; Leventer, Richard J; Simons, Cas; Taft, Ryan; Swoboda, Kathryn J; Gawne-Cain, Mary; Magee, Alex C; Turnpenny, Peter D; Baralle, Diana

Journal of Medical Genetics. Dec 01, 2014 51(12):806-813

Stabley DL; Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Holbrook J; Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Scavina M; Division of Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Crawford TO; Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.; Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.; Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Robbins KM; Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Butchbach MER; Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA. Matthew.Butchbach@nemours.org.; Department of Biological Sciences, University of Delaware, Newark, DE, USA. Matthew.Butchbach@nemours.org.; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Matthew.Butchbach@nemours.org.; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA. Matthew.Butchbach@nemours.org.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Kong L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Valdivia DO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Simon CM; Center for Motor Neuron Biology and Disease, Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.; Hassinan CW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Delestrée N; Center for Motor Neuron Biology and Disease, Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.; Ramos DM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Park JH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Pilato CM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Xu X; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Crowder M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Grzyb CC; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; King ZA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Petrillo M; Biogen, Cambridge, MA 02142, USA.; Swoboda KJ; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Davis C; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Lutz CM; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Stephan AH; F. Hoffmann-La Roche Ltd., pRED, Pharma & Early Development, Roche Innovation Center Basel, Basel CH-4070, Switzerland.; Zhao X; PTC Therapeutics, 100 Corporate Court, South Plainfield, NJ 07080, USA.; Weetall M; PTC Therapeutics, 100 Corporate Court, South Plainfield, NJ 07080, USA.; Naryshkin NA; PTC Therapeutics, 100 Corporate Court, South Plainfield, NJ 07080, USA.; Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Mentis GZ; Center for Motor Neuron Biology and Disease, Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.; Department of Neurology, Columbia University, New York, NY 10032, USA.; Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. csumner1@jhmi.edu.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Alves CRR; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Zhang R; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Johnstone AJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Garner R; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Eichelberger EJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Lepez SDSD; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Yi V; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Stevens V; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Poxson R; PharmOptima, Portage, Michigan.; Schwartz R; PharmOptima, Portage, Michigan.; Zaworski P; PharmOptima, Portage, Michigan.; Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE