Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Autorzy:
Doody A; Virginia Commonwealth University, Richmond, VA, USA. Alfano L; Nationwide Children's Hospital, Columbus, OH, USA. Diaz-Manera J; Newcastle University, Newcastle, UK. Lowes L; Nationwide Children's Hospital, Columbus, OH, USA. Mozaffar T; University of California, Irvine, CA, USA. MathewsKD; University of Iowa Carver College of Medicine, Iowa City, IA, USA. Weihl CC; Washington University, St. Louis, MO, USA. Wicklund M; UT Health San Antonio, San Antonio, TX, USA. Hung M; Roseman University, Salt Lake City, UT, USA. Statland J; University of Kansas Medical Center, Kansas City, KS, USA. Johnson NE; Virginia Commonwealth University, Richmond, VA, USA. .
Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact.
Autorzy:
Cole MR; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA. Cooper CS; Department of Urology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA. Hanna EM; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA. Zimmerman MB; Department of Biostatistics, University of Iowa College of Public Health, Iowa City, Iowa, USA. Kinoshita J; FSHD Society, Randolph, Massachusetts, USA. MathewsKD; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
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Źródło:
Muscle & nerve [Muscle Nerve] 2024 Mar; Vol. 69 (3), pp. 325-333. Date of Electronic Publication: 2023 Dec 29.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Autorzy:
Chen Z; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom. Gustavsson EK; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom. Macpherson H; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom. Anderson C; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom. Clarkson C; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom. Rocca C; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Self E; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Alvarez Jerez P; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. Scardamaglia A; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Pellerin D; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Montgomery K; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom. Lee J; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Gagliardi D; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Luo H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom. Hardy J; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Reta Lila Weston Institute, Queen Square Institute of Neurology, University College London, London, United Kingdom.; UK Dementia Research Institute, University College London, London, United Kingdom.; NIHR University College London Hospitals Biomedical Research Centre, London, United Kingdom.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong, China. Polke J; The Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Singleton AB; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. Blauwendraat C; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. MathewsKD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. Tucci A; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom. Fu YH; Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; Weill Institute for Neuroscience, University of California San Francisco, San Francisco, California, USA.; Kavli Institute for Fundamental Neuroscience, University of California San Francisco, San Francisco, California, USA. Houlden H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Ryten M; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom. Ptáček LJ; Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; Weill Institute for Neuroscience, University of California San Francisco, San Francisco, California, USA.; Kavli Institute for Fundamental Neuroscience, University of California San Francisco, San Francisco, California, USA.
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Autorzy:
Lynch DR; Departments of Pediatrics and Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Goldsberry A; Reata Pharmaceuticals, Dallas, Texas, USA. Rummey C; Clinical Data Science GmbH, Basel, Switzerland. Farmer J; Friedreich Ataxia Research Alliance, Downingtown, Pennsylvania, USA. Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Giunti P; University College London Hospital, Bloomsbury, London, UK. Hoyle JC; Department of Neurology, Ohio State University College of Medicine, Columbus, Ohio, USA. Mariotti C; IRCCS - Istituto Neurologico Carlo Besta, Milan, Lombardy, Italy. MathewsKD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. Perlman S; Department of Neurology, University of California Los Angeles, Los Angeles, California, USA. Subramony SH; Department of Neurology, McKnight Brain Institute, University of Florida Health System, Gainesville, Florida, USA. Wilmot G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA. Zesiewicz T; Department of Neurology, University of South Florida Ataxia Research Center, Tampa, Florida, USA. Weissfeld L; WCG-Statistics Collaborative, Washington, DC, USA. Meyer C; Reata Pharmaceuticals, Dallas, Texas, USA.
Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy.
Autorzy:
Conway KM; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA. Thomas S; New York State Department of Health, Albany, New York, USA. Ciafaloni E; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA. Khan RS; Department of Pediatrics, UCLA Health Sciences, Los Angeles, California, USA.; Department of Pediatrics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA. Mann JR; Department of Preventive Medicine, School of Medicine and John D. Bower School of Population Health, University of Mississippi Medical Center, Jackson, Mississippi, USA. Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA. MathewsKD; Department of Pediatrics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Autorzy:
Ajjarapu A; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA. Feely SME; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA. Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA. Trout C; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA. Zuchner S; Department of Human Genetics and Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA, USA. MathewsKD; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
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Źródło:
Case reports in neurology [Case Rep Neurol] 2023 Jun 12; Vol. 15 (1), pp. 146-152. Date of Electronic Publication: 2023 Jun 12 (Print Publication: 2023).
Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Autorzy:
Reelfs AM; University of Iowa Carver College of Medicine, 375 Newton Rd, Iowa City, IA 52242, United States. Stephan CM; Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, IA 52242, United States. Mockler SRH; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, 100 Hawkins Drive, Iowa City, IA 52242, United States. Laubscher KM; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, 100 Hawkins Drive, Iowa City, IA 52242, United States. Zimmerman MB; Department of Biostatistics, College of Public Health, University of Iowa, 145N. Riverside Drive, Iowa City, IA 52242, United States. MathewsKD; Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, IA 52242, United States; Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, United States. Electronic address: katherine-mathews@uiowa.edu.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Jun; Vol. 33 (6), pp. 523-530. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.
Autorzy:
Marcelot A; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.; Expression Génétique Microbienne, UMR 8261, CNRS, Institut de Biologie Physico-Chimique (IBPC), Université Paris Cité, 75005 Paris, France. Rodriguez-Tirado F; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Cuniasse P; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France. Joiner ML; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Miron S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France. Soshnev AA; Department of Neuroscience, Developmental and Regenerative Biology, The University of Texas at San Antonio, San Antonio, TX 78249, USA. Fang M; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Pufall MA; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. MathewsKD; Department of Pediatrics and Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Moore SA; Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Zinn-Justin S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France. Geyer PK; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
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Źródło:
Cells [Cells] 2023 Mar 09; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
Autorzy:
Lynch DR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. .; Departments of Pediatrics and Neurology, The Children's Hospital of Philadelphia, 502F Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. . MathewsKD; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, USA. Perlman S; University of California Los Angeles, Los Angeles, USA. Zesiewicz T; USF Ataxia Research Center, University of South Florida, James A. Haley Veteran's Hospital, Tampa, FL, USA. Subramony S; Norman Fixel Center for Neurological Disorders, University of Florida College of Medicine, Gainesville, USA. Omidvar O; University of California Los Angeles, Los Angeles, USA. Vogel AP; University of Melbourne, Parkville, Australia.; Redenlab Inc, Melbourne, Australia. Krtolica A; Retrotope, Los Altos, CA, USA. Litterman N; Retrotope, Los Altos, CA, USA. van der Ploeg L; Retrotope, Los Altos, CA, USA. Heerinckx F; Retrotope, Los Altos, CA, USA. Milner P; Retrotope, Los Altos, CA, USA. Midei M; Retrotope, Los Altos, CA, USA.
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Źródło:
Journal of neurology [J Neurol] 2023 Mar; Vol. 270 (3), pp. 1615-1623. Date of Electronic Publication: 2022 Dec 03.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Autorzy:
Lynch DR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. Chin MP; Reata Pharmaceuticals, Dallas, Texas, USA. Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Giunti P; University College London Hospital, London, United Kingdom. Goldsberry A; Reata Pharmaceuticals, Dallas, Texas, USA. Hoyle JC; Department of Neurology, Ohio State University College of Medicine, Columbus, Ohio, USA. Mariotti C; IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy. MathewsKD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. O'Grady M; Reata Pharmaceuticals, Dallas, Texas, USA. Perlman S; Department of Neurology, University of California Los Angeles, Los Angeles, California, USA. Subramony SH; Department of Neurology, McKnight Brain Institute, University of Florida Health System, Gainesville, Florida, USA. Wilmot G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA. Zesiewicz T; Department of Neurology, University of South Florida Ataxia Research Center, Tampa, Florida, USA. Meyer CJ; Reata Pharmaceuticals, Dallas, Texas, USA.
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Autorzy:
Hagedorn JL; University of Iowa Carver College of Medicine, Iowa City, USA.; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. Dunn TM; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL, USA. Bhattarai S; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. Stephan C; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA. MathewsKD; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Department of Neurology, University of Iowa, Iowa City, IA, USA. Pfeifer W; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. . Drack AV; University of Iowa Carver College of Medicine, Iowa City, USA. .; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. .
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