Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Stafki SA"'
Autor:
Rajamani G; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Stafki SA; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Daugherty AL; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Mantyh WG; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Littel HR; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Bruels CC; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Pacak CA; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Robbins PD; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Niedernhofer LJ; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Abiona A; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Giunti P; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Mohammed S; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Laugel V; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis., Kang PB; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.
Publikováno v:
Neurology. Clinical practice [Neurol Clin Pract] 2024 Aug; Vol. 14 (4), pp. e200309. Date of Electronic Publication: 2024 May 16.
Autor:
Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Sharma R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA, USA., Pata V; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia., Reimand T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham & Women's Hospital,Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA., Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA., Folland C; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia., Perić S; University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia., Fahmy N; Neuromuscular Center, Ain Shams University, Cairo, Egypt., Udd B; Tampere Neuromuscular Center and Folkhalsan Research Center, Helsinki, Finland., Horakova M; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic., Łusakowska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Manoj R; National Institute of Mental Health and Neuro Sciences, Bengaluru, India., Nalini A; National Institute of Mental Health and Neuro Sciences, Bengaluru, India., Karcagi V; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Haliloğlu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Herguner O; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey., Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA., Ravenscroft G; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia., Laing N; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia., Scott HS; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 29. Date of Electronic Publication: 2024 Jun 29.
Autor:
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, Pacak CA, Kang PB
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 May 08. Date of Electronic Publication: 2024 May 08.
Autor:
Stafki SA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Turner J; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Littel HR; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Bruels CC; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Truong D; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Knirsch U; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Graf U; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland., Berger W; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland; Neuroscience Center Zurich (NCZ), University and ETH Zürich, Zürich, Switzerland; Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland., Kinali M; Department of Brain Sciences, Imperial College London and Portland Hospital HCA International, London, United Kingdom., Jungbluth H; Evelina Children's Hospital and King's College London, University of Manchester, London, United Kingdom., Pacak CA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Hughes J; Amy and Friends Cockayne Syndrome/Trichothiodystrophy Support, Wirral, United Kingdom., Mirchi A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Derksen A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Theil AF; Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bernard G; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Center, Montreal, Canada., Ellis D; South East Genomics Laboratory Hub, Guy's Hospital, London, United Kingdom., Fassihi H; St. John's Institute of Dermatology, Rare Disease Centre, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom., Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mohammed S; South East Thames Regional Genetics Service and Rare Diseases Centre Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Kang PB; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota. Electronic address: pkang@umn.edu.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2023 Apr; Vol. 141, pp. 79-86. Date of Electronic Publication: 2023 Jan 24.
Autor:
Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Bruels CC; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Milisenda JC; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Li C; Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL, 32610, USA., Pijuan J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Stafki SA; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Syeda SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Pinal-Fernandez I; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Mammen AL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Grau-Junyent JM; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Palau F; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Hoenicka J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Kang PB; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA. pkang@umn.edu.; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA. pkang@umn.edu., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain. daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2023 Apr; Vol. 145 (4), pp. 479-496. Date of Electronic Publication: 2023 Feb 17.