Zobrazeno 1 - 10
of 575
pro vyhledávání: '"Yum, SW"'
Autor:
Matesanz SE; Division of Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Brigatti KW; Clinic for Special Children, Gordonville, Pennsylvania, USA., Young M; Clinic for Special Children, Gordonville, Pennsylvania, USA., Yum SW; Division of Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Strauss KA; Clinic for Special Children, Gordonville, Pennsylvania, USA.; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul; Vol. 11 (7), pp. 1868-1878. Date of Electronic Publication: 2024 May 31.
Autor:
Kosmanopoulos G; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Donohue JK; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Hoke M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Thomas S; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Peyton MA; Department of Neurology, Mass General Brigham, Boston, MA 02114, USA., Vo L; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, NY 14627, USA., Yum SW; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Walk D; Department of Neurology, University of Minnesota, MN 55455, USA., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., McCray BA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 25. Date of Electronic Publication: 2024 Jun 25.
Autor:
Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14618, USA., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Day J; Department of Neurology, Stanford University, Stanford, CA 94304, USA., Burns J; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia., Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Weiss MD; Department of Neurology, University of Washington, Seattle, WA, 98195USA., Acsadi G; Connecticut Children's Medical Center, Hartford, CT 06106, USA., Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK., Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4336-4349.
Autor:
Rehbein T; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Wu TT; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA., Treidler S; Department of Neurology, Stony Brook University, Stony Brook, NY 11790, USA., Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Lewis R; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCray BA; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Ramchandren S; Clinical Development Department - Neuroscience, The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Burns J; Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, University of Sydney School of Health Sciences, Sydney Children's Hospitals Network, Sydney 2031, Australia., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33101, USA., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Sep 01; Vol. 146 (9), pp. 3826-3835.
Autor:
Donlevy GA; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY. gabrielle.donlevy@sydney.edu.au., Cornett KMD; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Garnett SP; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Shy R; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Estilow T; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Yum SW; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Anderson K; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Pareyson D; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Moroni I; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Muntoni F; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Reilly MM; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Finkel RS; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Herrmann DN; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Eichinger KJ; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Shy ME; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Burns J; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY., Menezes MP; From the Faculty of Medicine and Health & Children's Hospital at Westmead (G.A.D., K.M.D.C., S.P.G., J.B., M.P.M.), University of Sydney, Australia; Department of Neurology (R.S., M.E.S.), and Department of Pediatrics (T.E., S.W.Y.), Carver College of Medicine, University of Iowa, Iowa City; Division of Neurology (T.E., S.W.Y.), The Children's Hospital of Philadelphia, PA; Department of Neurology (T.E., S.W.Y.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Occupational Therapy (K.A.), Children's Hospital of Philadelphia, PA; Fondazione IRCCS (D.P., I.M.), Istituto Neurologico Carlo Besta, Milan, Italy; University College London Institute of Child Health & Great Ormond Street Hospital (F.M.); Department of Neuromuscular Diseases (M.M.R.), University College London Institute of Neurology, Queen Square, United Kingdom; Center for Experimental Neurotherapeutics (Pediatrics) (R.S.F.), St. Jude Children's Research Hospital, Memphis, TN; and Department of Neurology (D.N.H., K.J.E.), University of Rochester, NY.
Publikováno v:
Neurology [Neurology] 2023 Aug 15; Vol. 101 (7), pp. e717-e727. Date of Electronic Publication: 2023 Jun 28.
Autor:
Bulas S; Division of Ophthalmology (SB, ECB, ECO, GTL, TSA), The Roberts Individualized Medical Genetics Center (ECB, IDK), Division of Genetics (IDK), Division of Neurology (SWY), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and Department of Ophthalmology (ECO, TSA), Center for Advanced Retinal and Ocular Therapeutics, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2023 Mar 01; Vol. 43 (1), pp. 110-115. Date of Electronic Publication: 2022 Aug 02.
Autor:
Fridman V; Department of Neurology, University of Colorado Denver, Aurora, CO, USA., Sillau S; Department of Neurology, University of Colorado Denver, Aurora, CO, USA., Bockhorst J; Department of Neurology, University of Colorado Denver, Aurora, CO, USA., Smith K; Department of Neurology, University of Colorado Denver, Aurora, CO, USA., Moroni I; Department of Child Neurology, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy., Pagliano E; Department of Child Neurology, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy., Piscosquito G; Department of Clinical Neurosciences, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy.; Maugeri Scientific Clinical Institutes, Neurorehabilitation Unit, Scientific Institute of Telese Terme, Telese Terme, Italy., Laurá M; Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Muntoni F; Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital, London, UK., Bacon C; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Feely S; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.; Department of Neurology, Wayne State University, Detroit, MI, USA., Grider T; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Gutmann L; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Shy R; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.; Department of Neurology, Wayne State University, Detroit, MI, USA., Wilcox J; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY, USA., Li J; Department of Neurology, Wayne State University, Detroit, MI, USA.; Department of Neurology, Vanderbilt University, Nashville, TN, USA., Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI, USA.; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; PRA Health Sciences, Raleigh, NC, USA., Sumner CJ; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD, USA., Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD, USA., Day J; Department of Neurology, Stanford University, Stanford, CA, USA., Siskind CE; Department of Neurology, Stanford University, Stanford, CA, USA., Yum SW; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL, USA., Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Pareyson D; Department of Clinical Neurosciences, Scientific Institute for Research and Health Care Foundation Carlo Besta Neurological Institute, Milan, Italy., Reilly MM; Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Shy ME; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.; Department of Neurology, Wayne State University, Detroit, MI, USA.
Publikováno v:
Annals of neurology [Ann Neurol] 2023 Mar; Vol. 93 (3), pp. 563-576. Date of Electronic Publication: 2022 Oct 28.
Autor:
Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
Autor:
Dingwall CB; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Strickland A; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Yum SW; Division of Neurology, Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Yim AK; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Zhu J; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Wang PL; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA., Yamada Y; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Schmidt RE; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA., Sasaki Y; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Bloom AJ; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.; Needleman Center for Neurometabolism and Axonal Therapeutics, St. Louis, Missouri, USA., DiAntonio A; Needleman Center for Neurometabolism and Axonal Therapeutics, St. Louis, Missouri, USA.; Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri, USA., Milbrandt J; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.; Needleman Center for Neurometabolism and Axonal Therapeutics, St. Louis, Missouri, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2022 Dec 01; Vol. 132 (23). Date of Electronic Publication: 2022 Dec 01.
Autor:
Yiu EM; Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia eppie.yiu@rch.org.au.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Bray P; Paediatric Gait Analysis Service of New South Wales, Orthopaedics Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia., Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Edegem, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, Belgium., Baker SK; Peripheral Neuropathy Clinic, McMaster University, Hamilton, Ontario, Canada., Barisic N; National Referral Centre for Pediatric Neuromuscular Disorders, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., de Valle K; Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Estilow T; Department of Occupational Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Farrar MA; Department of Neurology, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia., Finkel RS; Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Haberlová J; 2nd Medical School, Motol University Hospital, Prague, Praha, Czech Republic., Kennedy RA; Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Lombardia, Italy., Nicholson GA; Centre for Motor Neurone Disease Research, Macquarie University, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia., Ramchandren S; Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, New Jersey, USA., Reilly MM; Queen Square for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UK., Rose K; Discipline of Physiotherapy, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia., Shy ME; Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Siskind CE; Department of Neurology, Stanford Health Care, Stanford, California, USA., Yum SW; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Menezes MP; Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Paediatrics and Child Health, The University of Sydney, Sydney, New South Wales, Australia., Ryan MM; Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Burns J; Paediatric Gait Analysis Service of New South Wales, Orthopaedics Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2022 May; Vol. 93 (5), pp. 530-538. Date of Electronic Publication: 2022 Feb 09.