المؤلفون: Bharucha-Goebel DX; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Todd JJ; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Saade D; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Norato G; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Jain M; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Lehky T; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Bailey RM; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Chichester JA; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Calcedo R; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Armao D; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Foley AR; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Mohassel P; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Tesfaye E; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Carlin BP; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Seremula B; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Waite M; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Zein WM; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Huryn LA; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Crawford TO; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Sumner CJ; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Hoke A; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Heiss JD; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Charnas L; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Hooper JE; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Bouldin TW; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Kang EM; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Rybin D; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Gray SJ; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.)., Bönnemann CG; From the Neuromuscular and Neurogenetic Disorders of Childhood Section (D.X.B.-G., J.J.T., D.S., A.R.F., P.M., C.G.B), National Institute of Neurological Disorders and Stroke (G.N., T.L., J.D.H.), the Rehabilitation Medicine Department, Clinical Center (M.J., M.W.), National Eye Institute (W.M.Z., L.A.H.), and the National Institute of Allergy and Infectious Diseases, Division of Intramural Research (E.M.K.), National Institutes of Health, Bethesda, and the Departments of Neurology (C.J.S., A.H., T.O.C.), Neuroscience (C.J.S., A.H.), and Pediatrics (T.O.C.), Johns Hopkins University School of Medicine, Baltimore - all in Maryland; Children's National Hospital, Washington, DC (D.X.B.-G.); the University of Iowa, Iowa City (D.S.); the Department of Pediatrics and Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (R.M.B, S.J.G.), and Taysha Gene Therapies (E.T.) - both in Dallas; the Gene Therapy Program, University of Pennsylvania Perelman School of Medicine, Philadelphia (J.A.C.), Cencora PharmaLex, Conshohocken (B.P.C.), and Atorus Research, Newtown Square (B.S.) - all in Pennsylvania; Affinia Therapeutics, Waltham (R.C.), and the Rare Disease Research Unit, Pfizer, Cambridge (L.C., D.R.) - both in Massachusetts; the Departments of Pathology and Laboratory Medicine (D.A., T.W.B.) and Radiology (D.A.), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; and the Department of Pathology, Stanford University School of Medicine, Stanford, CA (J.E.H.).

مؤلفون مشاركون: GAN Trial Team

المصدر: The New England journal of medicine [N Engl J Med] 2024 Mar 21; Vol. 390 (12), pp. 1092-1104.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy*/adverse effects , Genetic Therapy*/methods , Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/therapy , Gene Transfer Techniques*, Child ; Humans ; Cytoskeletal Proteins/genetics ; Transgenes ; Injections, Spinal

المؤلفون: Park HM; Biometrology Group, Korea Research Institute of Standards and Science, Daejeon 34113, Korea., Le L; Division of Quantum Simulation and Optimization, SandboxAQ, New York, NY 10591., Nguyen TT; Gehrke Proteomics Center, Christopher S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211., Nam KH; Cell Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065., Ordureau A; Cell Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065., Lee JE; Biometrology Group, Korea Research Institute of Standards and Science, Daejeon 34113, Korea., Nguyen TV; Center for Precision Medicine, Department of Medicine, University of Missouri, Columbia, MO 65212.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Nov 07; Vol. 120 (45), pp. e2306395120. Date of Electronic Publication: 2023 Oct 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Neurofilament Proteins* , Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/pathology , Giant Axonal Neuropathy*/therapy, Humans ; Cytoskeletal Proteins/metabolism ; Ubiquitin ; Ligases ; Axons/metabolism ; Ubiquitin-Specific Proteases

المؤلفون: Hou X; Department of Radiology, Binzhou Medical University Hospital, Binzhou, People's Republic of China.; Department of Radiology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai, People's Republic of China., Li J; Department of Radiology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai, People's Republic of China., Bian J; Department of Radiology, Binzhou Medical University Hospital, Binzhou, People's Republic of China.

المصدر: Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 217-218. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1998-4022 (Electronic) Linking ISSN: 00283886 NLM ISO Abbreviation: Neurol India Subsets: MEDLINE

مواضيع طبية MeSH: Giant Axonal Neuropathy*/diagnostic imaging, Humans

المؤلفون: Imoto M; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital., Nakamura K; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Neurology, Kansai Electric Power Hospital., Inoue K; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Rehabilitation, National Hospital Organization Osaka Toneyama Medical Center., Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Okuda S; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Neurology, Hyogo Prefectural Kakogawa Medical Center.

المصدر: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2023 Sep 20; Vol. 63 (9), pp. 566-571. Date of Electronic Publication: 2023 Aug 29.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1882-0654 (Electronic) Linking ISSN: 0009918X NLM ISO Abbreviation: Rinsho Shinkeigaku Subsets: MEDLINE

مواضيع طبية MeSH: Giant Axonal Neuropathy*/genetics, Aged ; Male ; Humans ; Middle Aged ; Child, Preschool ; Adolescent ; Activities of Daily Living ; Patients ; Autonomic Nervous System ; Mutation, Missense

المؤلفون: Lescouzères L; ERC Team, NeuroMyoGene Insitute - Now PGNM, Inserm U1315, CNRS UMR5261, University of Lyon 1, Lyon, France., Hassen-Khodja C; Montpellier Ressources Imagerie, BioCampus, University of Montpellier, CNRS, INSERM, Montpellier, France., Baudot A; Aix Marseille Univ, INSERM, MMG, Marseille Medical Genetics, CNRS, Marseille, France., Bordignon B; Montpellier Ressources Imagerie, BioCampus, University of Montpellier, CNRS, INSERM, Montpellier, France., Bomont P; ERC Team, NeuroMyoGene Insitute - Now PGNM, Inserm U1315, CNRS UMR5261, University of Lyon 1, Lyon, France.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2023 Jul 10; Vol. 15 (7), pp. e16267. Date of Electronic Publication: 2023 May 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: EMBO Press Country of Publication: England 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

مواضيع طبية MeSH: Giant Axonal Neuropathy*/diagnosis , Giant Axonal Neuropathy*/pathology , Giant Axonal Neuropathy*/therapy, Animals ; Cytoskeletal Proteins ; Zebrafish ; Neuromuscular Junction

المؤلفون: Nath B; CERVO Brain Research Centre, 2601, de La Canardière, Québec City, Québec, G1J2G3, Canada., Phaneuf D; CERVO Brain Research Centre, 2601, de La Canardière, Québec City, Québec, G1J2G3, Canada., Julien JP; CERVO Brain Research Centre, 2601, de La Canardière, Québec City, Québec, G1J2G3, Canada. jean-pierre.julien@fmed.ulaval.ca.; Department of Psychiatry and Neuroscience, Université Laval, Québec City, Québec, Canada. jean-pierre.julien@fmed.ulaval.ca.

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2023 Jul; Vol. 20 (4), pp. 1215-1228. Date of Electronic Publication: 2023 Jun 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

مواضيع طبية MeSH: Cytoskeletal Proteins*/metabolism , Giant Axonal Neuropathy*/metabolism , Giant Axonal Neuropathy*/therapy, Mice ; Animals ; Axonal Transport ; Intermediate Filament Proteins/metabolism ; Axons/metabolism ; Ganglia, Spinal/metabolism

المؤلفون: Ashrafi MR; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Paediatrics, Division of Paediatric Neurology, Growth and Development Research Center, Children's Medical Centre, Paediatrics Centre of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Dehnavi AZ; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Tavasoli AR; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Heidari M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Ghahvechi Akbari M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Physical Medicine and Rehabilitation department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Ronagh AR; Pediatric Neurology Department, Alborz University of Medical Sciences, Karaj, Iran., Ghafouri M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Mahdieh N; Genetic Research Center, Rajaei Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran., Mohammadi P; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Rezaei Z; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2159. Date of Electronic Publication: 2023 Mar 03.

نوع المنشور: Case Reports; Review; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Giant Axonal Neuropathy*/diagnosis , Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/pathology , Peripheral Nervous System Diseases*/genetics, Male ; Humans ; Child ; Iran ; Retrospective Studies ; Cytoskeletal Proteins/genetics ; Mutation

المؤلفون: Nath B; CERVO Brain Research Centre, Québec City, Québec G1E1T2 Canada., Julien JP; CERVO Brain Research Centre, Québec City, Québec G1E1T2 Canada jean-pierre.julien@fmed.ulaval.ca.; Department of Psychiatry and Neuroscience, Université Laval, Québec City, Québec G1E1T2 Canada.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2023 May 31; Vol. 43 (22), pp. 4174-4189. Date of Electronic Publication: 2023 May 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/pathology , Giant Axonal Neuropathy*/therapy, Male ; Female ; Mice ; Humans ; Animals ; Intermediate Filaments/genetics ; Intermediate Filaments/metabolism ; Intermediate Filaments/pathology ; Cytoskeletal Proteins/genetics ; Intermediate Filament Proteins/genetics ; Intermediate Filament Proteins/metabolism ; Phenotype ; Mice, Transgenic

المؤلفون: Renganathan B; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Zewe JP; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Cheng Y; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Paumier JM; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Kittisopikul M; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Ridge KM; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Opal P; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Gelfand VI; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2023 May; Vol. 37 (5), pp. e22886.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: 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

مواضيع طبية MeSH: Cytoskeletal Proteins*/metabolism , Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/metabolism , Giant Axonal Neuropathy*/pathology, Humans ; Intermediate Filaments/metabolism ; Kinesins/genetics ; Kinesins/metabolism ; Intermediate Filament Proteins/metabolism ; Microtubules/metabolism

المؤلفون: Zhang X; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China., Guo Y; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China., Sun W; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China. wenxiusunslyy@126.com.

المصدر: Molecular biology reports [Mol Biol Rep] 2022 Sep; Vol. 49 (9), pp. 9107-9112. Date of Electronic Publication: 2022 Jun 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Giant Axonal Neuropathy*/genetics, China ; Cytoskeletal Proteins/genetics ; Humans ; Mutation/genetics