부산대학교 도서관

Novak JS; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA. jnovak@childrensnational.org.; Departments of Pediatrics and Genomics and Precision Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA. jnovak@childrensnational.org.; Lischin A; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Columbian College of Arts and Sciences, The George Washington University, Washington, DC, USA.; Uapinyoying P; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hindupur R; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Moon YJ; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Department of Biochemistry and Orthopaedic Surgery, Jeonbuk National University Medical School and Hospital, Jeonju, Republic of Korea.; Bhattacharya S; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Tiufekchiev-Grieco S; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Integrated Biomedical Sciences, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Barone V; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Columbian College of Arts and Sciences, The George Washington University, Washington, DC, USA.; Mázala DAG; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Department of Kinesiology, College of Health Professions, Towson University, Towson, MD, USA.; Gamu IH; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Walters G; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA.; Jaiswal JK; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, USA. jkjaiswal@childrensnational.org.; Departments of Pediatrics and Genomics and Precision Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA. jkjaiswal@childrensnational.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

Hogarth MW; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Kurukunda MP; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Ismat K; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Uapinyoying P; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Jaiswal JK; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.

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

P. Sonaimuthu; E. Senkevitch; N. Haskins; P. Uapinyoying; M. McNutt; H. Morizono; M. Tuchman; L. Caldovic

Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)

Bolduc, Veronique; Sizov, Katherine; Brull, Astrid; Esposito, Eric; Chen, Grace S.; Uapinyoying, Prech; Sarathy, Apurva; Johnson, Kory R.; Bonnemann, Carsten G.

MOLECULAR THERAPY NUCLEIC ACIDS; SEP 10 2024, 35 3, p102269 14p.

Donkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I.; Töpf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S.H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I.; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V.; Foley, A. Reghan; Innes, A. M.; Bönnemann, C. G.; Shutt, T. E.

Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 138(6):1013-1031

Bolduc, V.; McCarthy, R.; Hu, Y.; Silverstein, S.; Uapinyoying, P.; Donkervoort, S.; Foley, A.; Bönnemann, C.

Neuromuscular Disorders. 32:S123-S123

Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Rutgers New Jersey School of Medicine, 185 S Orange Ave, Newark, NJ 07103, USA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD 20892, USA. Electronic address: sarah.silverstein@nih.gov.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Syeda S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Gorokhova S; Aix Marseille University, INSERM, MMG, U 1251 Marseille, France; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.; Meilleur KG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Ionis Pharmaceuticals, Carlsbad CA, USA.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Division of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR, USA.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Research Center for Genetic Medicine, Children's National Research Institute, Children's National Medical Center, Washington, DC 20010, USA.; Chao KR; Broad Institute of MIT and Harvard, 415 Main St., Cambridge, MA 02142, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: carsten.bonnemann@nih.gov.

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

Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Krause N; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Dergai M; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.; Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Koliwer J; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France.; Geist Hauserman J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Cummings BB; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Smith R; Maine Medical Center, Portland, ME, USA.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.; Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.; Ghosh PS; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Edassery SL; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Ferle PE; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Rutgers New Jersey School of Medicine, Newark, NJ, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.; Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Snyder M; Department of Neurology, Children's Health, Dallas, TX, USA.; Ellingwood S; Maine Medical Center, Portland, ME, USA.; Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Medical Center, Washington, DC, USA.; Iannaccone ST; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Dal Peraro M; Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Savas JN; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Fasshauer D; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Schwake M; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Bolduc, V.; Sizov, K.; Uapinyoying, P.; Esposito, E.; Brull, A.; Chen, G.; Sarathy, A.; Johnson, K.; Bönnemann, C.

Neuromuscular Disorders. 31:S162-S162

Nagy S; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.; Lau T; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Alavi S; Division of Genetics, Department of Cellular and Molecular Biology and Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.; Vallian J; Division of Genetics, Department of Cellular and Molecular Biology and Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Noroozi Asl S; Pediatrics Endocrinology Department, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhondian J; Pediatric Neurology Department, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Bahreini A; Karyogen Medical Genetics Laboratory, Alzahra University, Isfahan, Iran.; Yaghini O; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Bonnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Dissanayake VHW; Department of Anatomy, Genetics & Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Sirisena ND; Department of Anatomy, Genetics & Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Schmidts M; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Germany.; Houlden H; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Danville, Pennsylvania, USA.; Maroofian R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Silverstein, S.; Syeda, S.; Foley, A.; Meilleur, K.; Leach, M.; Uapinyoying, P.; Chao, K.; Donkervoort, S.; Bönnemann, C.

Neuromuscular Disorders. 31:S62-S62

Novak, James S.; Mázala, Davi A.G.; Nearing, Marie; Hindupur, Ravi; Uapinyoying, Prech; Habib, Nayab F.; Dickson, Tessa; Ioffe, Olga B.; Harris, Brent T.; Fidelia‐Lambert, Marie N.; Rossi, Christopher T.; Hill, D. Ashely; Wagner, Kathryn R.; Hoffman, Eric P.; Partridge, Terence A.

Aging Cell. June 5, 2021, Vol. 20 Issue 7

Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Rutgers New Jersey School of Medicine, 185 S Orange Ave Newark NJ 07103 USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland 20892, USA.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Syeda S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Gorokhova S; Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.; Meilleur KG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Biogen, Boston MA.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Division of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Research Center for Genetic Medicine, Children's National Research Institute, Children's National Medical Center, Washington DC 20010.; Chao KR; Broad Institute of MIT and Harvard, 415 Main St. Cambridge MA 02142.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.

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

Uapinyoying, Prech; Hogarth, Marshall; Battacharya, Surajit; Mazala, Davi A. G.; Panchapakesan, Karuna; Bonnemann, Carsten G.; Jaiswal, Jyoti K.

ISCIENCE; AUG 18 2023, 26 8, p107479 21p.

Taylor, D.M.; Aronow, B.J.; Tan, K.; Bernt, K.; Salomonis, N.; Greene, C.S.; Frolova, A.; Henrickson, S.E.; Wells, A.; Pei, L.; Jaiswal, J.K.; Whitsett, J.; Hamilton, K.E.; MacParland, S.A.; Kelsen, J.; Heuckeroth, R.O.; Potter, S.S.; Vella, L.A.; Terry, N.A.; Ghanem, L.R.; Kennedy, B.C.; Helbig, I.; Sullivan, K.E.; Castelo-Soccio, L.; Kreigstein, A.; Herse, F.; Nawijn, M.C.; Koppelman, G.H.; Haendel, M.; Harris, N.L.; Rokita, J.L.; Zhang, Y.; Regev, A.; Rozenblatt-Rosen, O.; Rood, J.E.; Tickle, T.L; Vento-Tormo, R.; Alimohamed, S.; Lek, M.; Mar, J.C.; Loomes, K.M.; Barrett, D.M.; Uapinyoying, P.; Beggs, A.H.; Agrawal, P.B.; Chen, Y.W.; Muir, A.B.; Garmire, L.X.; Snapper, S.B.; Nazarian, J.; Seeholzer, S.H.; Fazelinia, H.; Singh, L.N.; Faryabi, R.B.; Raman, P.; Dawany, N.; Xie, H.M.; Devkota, B.; Diskin, S.J.; Anderson, S.A.; Rappaport, E.F.; Peranteau, W.; Wikenheiser-Brokamp, K.A.; Teichmann, S.; Wallace, D.; Peng, T.; Ding, Y.Y.; Kim, M.S.; Xing, Y.; Kong, S.W.; Bönnemann, C.G.; Mandl, K.D.; White, P.S.

Developmental Cell. 49(1):10-29

Prech Uapinyoying; Jeremy Goecks; Susan M. Knoblach; Karuna Panchapakesan; Carsten G. Bonnemann; Terence A. Partridge; Jyoti K. Jaiswal; Eric P. Hoffman

Genome Res

S. Silverstein; K. Ganapathy; S. Donkervoort; J. Moy; B. Uapinyoying; S. Gorokhova; V. Ganesh; B. Weisburd; R. Orbach; A. Foley; P. Mohammadi; D. Adams; C. Bonnemann

Neuromuscular Disorders. 43:104441.331

Bolduc V; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Sizov K; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Brull A; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Esposito E; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Chen GS; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Uapinyoying P; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Center for Genetic Medicine Research, Children's National Research and Innovation Campus, Children's National Hospital, Washington, DC, 20012, USA.; Sarathy A; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Johnson K; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann CG; Neurogenetics and Neuromuscular Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 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

Jaya, Punetha; Akanchha, Kesari; Prech, Uapinyoying; Mamta, Giri; Nigel F, Clarke; Leigh B, Waddell; Kathryn N, North; Roula, Ghaoui; Gina L, O'Grady; Emily C, Oates; Sarah A, Sandaradura; Carsten G, Bönnemann; Sandra, Donkervoort; Paul H, Plotz; Edward C, Smith; Carolina, Tesi-Rocha; Tulio E, Bertorini; Mark A, Tarnopolsky; Bernd, Reitter; Irena, Hausmanowa-Petrusewicz; Eric P, Hoffman

Journal of Neuromuscular Diseases. 3:209-225

Uapinyoying, Prech; Goecks, Jeremy; Knoblach, Susan M.; Panchapakesan, Karuna; Bonnemann, Carsten G; Partridge, Terence A.; Jaiswal, Jyoti K; Hoffman, Eric P.