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المؤلفون: Sandgren JA; Divisions of Neonatology., Tung ML; Medical Genetics and Genomics., Berrebi KG; Department of Dermatology and Pediatrics, University of Iowa, Iowa City, Iowa., Saade DN; Pediatric Neurology, Department of Pediatrics., Bermick JR; Divisions of Neonatology., Lee SS; Divisions of Neonatology., Stanford AH; Divisions of Neonatology.

المصدر: Pediatrics [Pediatrics] 2024 Aug 01; Vol. 154 (2).

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Phototherapy*/adverse effects , Phototherapy*/methods, Humans ; Infant, Newborn ; Male ; Protoporphyria, Erythropoietic/therapy ; Protoporphyria, Erythropoietic/diagnosis ; Genetic Diseases, X-Linked/therapy ; Genetic Diseases, X-Linked/diagnosis ; Liver Failure, Acute/therapy ; Liver Failure, Acute/etiology ; Liver Failure, Acute/diagnosis

المؤلفون: Lawlor MW; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA. Electronic address: mlawlor@divergetsl.com., Schoser B; Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University of Munich, 80336, Germany., Margeta M; Department of Pathology, University of California San Francisco, San Francisco, CA, 94143, USA., Sewry CA; Wolfson Centre of Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London, WC1N 1EH, UK., Jones KA; Department of Pathology, Duke University School of Medicine, Durham, NC, 27710, USA., Shieh PB; Department of Neurology, University of California Los Angeles School of Medicine, Los Angeles, CA, 90095, USA., Kuntz NL; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA., Smith BK; Department of Physical Therapy, University of Florida, Gainesville, FL, 32610-0154, USA., Dowling JJ; Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Müller-Felber W; Dr. von Hauner Children's Hospital, Klinikum der Universität München, 80337, Munich, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, 20892-1477, USA., Seferian AM; I-Motion, Hôpital Armand Trousseau, 75571, Paris, France., Blaschek A; Dr. von Hauner Children's Hospital, Klinikum der Universität München, 80337, Munich, Germany., Neuhaus S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, 20892-1477, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, 20892-1477, USA., Saade DN; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, 20892-1477, USA., Tsuchiya E; Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Qasim UR; Department of Neurology, University of California Los Angeles School of Medicine, Los Angeles, CA, 90095, USA., Beatka M; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA., Prom MJ; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA., Ott E; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA., Danielson S; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA., Krakau P; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA., Kumar SN; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA., Meng H; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA; Diverge Translational Science Laboratory, Milwaukee, WI, 53204, USA., Vanden Avond M; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA., Wells C; Medical College of Wisconsin, Department of Pathology and Laboratory Medicine, Milwaukee, WI, 53226, USA., Gordish-Dressman H; Children's National Hospital and George Washington University School of Medicine and Health Sciences Department of Pediatrics, Washington, DC, 20037, USA., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Christensen S; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Conner E; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., James ES; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Lee J; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Sadhu C; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Miller W; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Sepulveda B; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Varfaj F; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Prasad S; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA., Rico S; Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics, Inc.), San Francisco, CA, 94108, USA.

المصدر: EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104894. Date of Electronic Publication: 2023 Dec 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

مواضيع طبية MeSH: Muscle, Skeletal*/pathology , Myopathies, Structural, Congenital*/genetics , Myopathies, Structural, Congenital*/therapy , Myopathies, Structural, Congenital*/pathology, Male ; Infant ; Humans ; Genetic Therapy/adverse effects ; Genetic Therapy/methods ; Muscle Weakness ; Muscle Strength

المؤلفون: Shieh PB; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: pshieh@mednet.ucla.edu., Kuntz NL; Division of Neurology, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Müller-Felber W; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Seferian AM; I-Motion, Hôpital Armand Trousseau, Paris, France., Servais L; I-Motion, Hôpital Armand Trousseau, Paris, France; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège, University of Liège, Liège, Belgium; Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Smith BK; Department of Physical Therapy, University of Florida, Gainesville, FL, USA., Muntoni F; NIHR, Great Ormond Street Hospital Biomedical Research Centre, University College London Institute of Child Health, London, UK., Blaschek A; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Saade DN; Division of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Neuhaus S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Alfano LN; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Buj-Bello A; Généthon, Evry, France; Integrare Research Unit UMR_S951, Université Paris-Saclay, Université d'Evry, Inserm, Généthon, Evry, France., Childers MK; Department of Rehabilitation Medicine, Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA., Duong T; Department of Neurology, Stanford University, Palo Alto, CA, USA., Graham RJ; Division of Critical Care Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jain M; Rehabilitation Medicine Department, NIH Hatfield Clinical Research Center, Bethesda, MD, USA., Coats J; Astellas Gene Therapies, San Francisco, CA, USA., MacBean V; Department of Health Sciences, Brunel University London, London, UK., James ES; Astellas Gene Therapies, San Francisco, CA, USA., Lee J; Astellas Gene Therapies, San Francisco, CA, USA., Mavilio F; Astellas Gene Therapies, San Francisco, CA, USA; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy., Miller W; Astellas Gene Therapies, San Francisco, CA, USA., Varfaj F; Astellas Gene Therapies, San Francisco, CA, USA., Murtagh M; Astellas Gene Therapies, San Francisco, CA, USA., Han C; Astellas Pharma Global Development, Northbrook, IL, USA., Noursalehi M; Astellas Gene Therapies, San Francisco, CA, USA., Lawlor MW; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Diverge Translational Science Laboratory, Milwaukee, WI, USA., Prasad S; Astellas Gene Therapies, San Francisco, CA, USA., Rico S; Astellas Gene Therapies, San Francisco, CA, USA.

المصدر: The Lancet. Neurology [Lancet Neurol] 2023 Dec; Vol. 22 (12), pp. 1125-1139.

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

بيانات الدورية: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myopathies, Structural, Congenital*/genetics , Myopathies, Structural, Congenital*/therapy , Sepsis*, Male ; Child ; Humans ; Infant ; Child, Preschool ; France ; Genetic Therapy/adverse effects ; Germany ; Treatment Outcome

المؤلفون: Servin-Vences MR; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Lam RM; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; NIH-Brown University Graduate Program in Neuroscience, Providence, RI, USA; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, MD, USA., Koolen A; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Wang Y; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Saade DN; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Loud M; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Kacmaz H; Division of Gastroenterology and Hepatology, Enteric Neuroscience Program (ENSP), Mayo Clinic, Rochester, MN, USA; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN, USA., Frausto S; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Zhang Y; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Beyder A; Division of Gastroenterology and Hepatology, Enteric Neuroscience Program (ENSP), Mayo Clinic, Rochester, MN, USA; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN, USA., Marshall KL; Department of Neuroscience, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA., Bönnemann CG; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Chesler AT; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, MD, USA. Electronic address: alexander.chesler@nih.gov., Patapoutian A; Department of Neuroscience, Dorris Neuroscience Center, Scripps Research, San Diego, CA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA. Electronic address: ardem@scripps.edu.

المصدر: Cell [Cell] 2023 Aug 03; Vol. 186 (16), pp. 3386-3399.e15.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Gastrointestinal Transit* , Ion Channels*/metabolism , Mechanotransduction, Cellular*, Animals ; Humans ; Mice ; Digestion ; Neurons/metabolism

المؤلفون: Saade DN; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address: carsten.bonnemann@nih.gov.

المصدر: Seminars in pediatric neurology [Semin Pediatr Neurol] 2019 Apr; Vol. 29, pp. 44-54. Date of Electronic Publication: 2019 Jan 16.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9441351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-0776 (Electronic) Linking ISSN: 10719091 NLM ISO Abbreviation: Semin Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Ultrasonography*, Muscle, Skeletal/*diagnostic imaging , Myopathies, Structural, Congenital/*diagnosis, DNA Mutational Analysis ; Diagnosis, Differential ; High-Throughput Nucleotide Sequencing ; Humans ; Myopathies, Structural, Congenital/diagnostic imaging ; Myopathies, Structural, Congenital/genetics

المؤلفون: Jensen BS; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa., Willer T; Howard Hughes Medical Institute, Departments of Molecular Physiology and Biophysics, Neurology, and Internal Medicine, University of Iowa Carver College of Medicine, University of Iowa, Iowa City, Iowa., Saade DN; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa., Cox MO; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa., Mozaffar T; Departments of Neurology and Orthopaedic Surgery, University of California, Irvine, California., Scavina M; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Stefans VA; Departments of Pediatrics and Physical Medicine and Rehabilitation, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas., Winder TL; Invitae Corp, San Francisco, California.; Prevention Genetics, Marshfield, Wisconsin., Campbell KP; Howard Hughes Medical Institute, Departments of Molecular Physiology and Biophysics, Neurology, and Internal Medicine, University of Iowa Carver College of Medicine, University of Iowa, Iowa City, Iowa., Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa., Mathews KD; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.

المصدر: Human mutation [Hum Mutat] 2015 Dec; Vol. 36 (12), pp. 1159-63. Date of Electronic Publication: 2015 Sep 23.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Phenotype*, Dystroglycans/*metabolism , Muscular Dystrophies/*genetics , Muscular Dystrophies/*metabolism , Nucleotidyltransferases/*genetics, Adolescent ; Alleles ; Biopsy ; Brain/pathology ; Child ; Child, Preschool ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophies/diagnosis ; Young Adult