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المؤلفون: Mielke JK; Department of Biomedical Sciences, McLaughlin Research Institute, 1520 23rd St. South, Great Falls, MT, 59405, USA., Klingeborn M; Department of Biomedical Sciences, McLaughlin Research Institute, 1520 23rd St. South, Great Falls, MT, 59405, USA., Schultz EP; Center for Biomolecular Structure and Dynamics, University of Montana, 32 Campus Drive ISB #106, Missoula, MT, USA., Markham EL; Department of Biomedical Sciences, McLaughlin Research Institute, 1520 23rd St. South, Great Falls, MT, 59405, USA., Reese ED; Department of Biomedical Sciences, McLaughlin Research Institute, 1520 23rd St. South, Great Falls, MT, 59405, USA., Alam P; Laboratory of Neurological Infections and Immunity, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 903 S. 4th St., Hamilton, MT, 59840, USA., Mackenzie IR; Departments of Pathology and Medicine, University of British Columbia, 2211 Wesbrook Mall, Vancouver, BC, V6T 2B5, Canada., Ly CV; Department of Neurology, Washington University, 660 S. Euclid Ave, Saint Louis, MO, 63110, USA., Caughey B; Laboratory of Neurological Infections and Immunity, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 903 S. 4th St., Hamilton, MT, 59840, USA., Cashman NR; Departments of Pathology and Medicine, University of British Columbia, 2211 Wesbrook Mall, Vancouver, BC, V6T 2B5, Canada., Leavens MJ; Department of Biomedical Sciences, McLaughlin Research Institute, 1520 23rd St. South, Great Falls, MT, 59405, USA. mleavens@mclaughlinresearch.org.

المصدر: Acta neuropathologica [Acta Neuropathol] 2024 Jun 17; Vol. 147 (1), pp. 100. Date of Electronic Publication: 2024 Jun 17.

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

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/metabolism , Spinal Cord*/pathology , Spinal Cord*/metabolism , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism , Biomarkers*/analysis, Aged ; Female ; Humans ; Male ; Middle Aged ; C9orf72 Protein/genetics ; Motor Cortex/pathology ; Motor Cortex/metabolism ; Mutation/genetics

المؤلفون: Lynch EM; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Pittman S; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Daw J; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Ikenaga C; Department of Neurology, Johns Hopkins University School of Medicine; Baltimore, MD, USA., Chen S; Department of Chemistry, Washington University in St Louis; St Louis, MO, USA., Dhavale DD; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Jackrel ME; Department of Chemistry, Washington University in St Louis; St Louis, MO, USA., Ayala YM; Department of Biochemistry and Molecular Biology, Saint Louis University; St Louis, MO, USA., Kotzbauer P; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Ly CV; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Pestronk A; Department of Neurology, Washington University in St Louis; St Louis, MO, USA., Lloyd TE; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Weihl CC; Department of Neurology, Washington University in St Louis; St Louis, MO, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Apr 04. Date of Electronic Publication: 2024 Apr 04.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Ly CV; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Ireland MD; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Self WK; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Bollinger J; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Jockel-Balsarotti J; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Herzog H; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Allred P; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Miller L; Sean M. Healey & AMG Center for ALS, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Doyle M; Sean M. Healey & AMG Center for ALS, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Anez-Bruzual I; Sean M. Healey & AMG Center for ALS, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Trikamji B; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Hyman T; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Kung T; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Nicholson K; Sean M. Healey & AMG Center for ALS, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bucelli RC; Department of Neurology, Washington University, Saint Louis, Missouri, USA., Patterson BW; Department of Medicine, Washington University, Saint Louis, Missouri, USA., Bateman RJ; Department of Neurology, Washington University, Saint Louis, Missouri, USA.; Hope Center for Neurological Disorders, Washington University, Saint Louis, Missouri, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, Missouri, USA., Miller TM; Department of Neurology, Washington University, Saint Louis, Missouri, USA.; Hope Center for Neurological Disorders, Washington University, Saint Louis, Missouri, USA.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Jun; Vol. 10 (6), pp. 1012-1024. Date of Electronic Publication: 2023 Apr 29.

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

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/cerebrospinal fluid, Humans ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase/genetics ; Kinetics

SCR Disease Name: Amyotrophic lateral sclerosis 1

المؤلفون: Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Nalls M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Gable K; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA., Gupta SD; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Saute JAM; Medical Genetics division and Neurology division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Graduate Program in Medicine: Medical Sciences, and Internal Medicine Department; Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Moreira AL; Neurology Department, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Kok F; Neurogenetics Outpatient Service, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil and Mendelics, São Paulo, Brazil., Introna A; Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy., Logroscino G; Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.; Department of Clinical Research in Neurology, Center for Neurodegenerative Diseases and the Aging Brain, University of Bari at 'Pia Fondazione Card G. Panico' Hospital Tricase (Le), Bari, Italy., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Nickolls AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Pourshafie N; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Gangfuß A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany., Kölbel H; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany., Piccus Z; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Le Pichon CE; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Fiorillo C; Paediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa, Genoa, Italy., Ly CV; Department of Neurology, Washington University in Saint Louis School of Medicine, Saint Louis, MO, USA., Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Brady L; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada., Specht S; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Zidell A; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, NJ, USA., Pedro H; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA., Mittelmann E; Department of Neurology, Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA., Thomas FP; Department of Neurology, Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA., Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Konersman CG; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA., Cho MT; GeneDx, Gaithersburg, MD, USA., Brandt T; GeneDx, Gaithersburg, MD, USA., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Connolly AM; Department of Paediatrics, Neurology Division, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA., Schara U; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany., Roos A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany., Tarnopolsky M; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada., Höke A; Department of Neurology, Neuromuscular Division, Johns Hopkins School of Medicine, Baltimore, MD, USA., Brown RH; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Lee CH; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Dunn TM; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA. teresa.dunn-giroux@usuhs.edu., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. carsten.bonnemann@nih.gov.

المصدر: Nature medicine [Nat Med] 2021 Jul; Vol. 27 (7), pp. 1197-1204. Date of Electronic Publication: 2021 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*metabolism , Sphingolipids/*biosynthesis, Adolescent ; Adult ; Alleles ; Amino Acid Sequence ; Amyotrophic Lateral Sclerosis/enzymology ; Amyotrophic Lateral Sclerosis/genetics ; CRISPR-Cas Systems ; Child ; Female ; Genes, Dominant ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Mutation ; Serine C-Palmitoyltransferase/genetics ; Serine C-Palmitoyltransferase/metabolism ; Young Adult

المؤلفون: Ly CV; Department of Neurology, Washington University, Saint Louis, MO, USA., Koenig L; Department of Radiology, Washington University, Saint Louis, MO, USA., Christensen J; Department of Radiology, Washington University, Saint Louis, MO, USA., Gordon B; Department of Radiology, Washington University, Saint Louis, MO, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA., Beaumont H; Department of Neurology, Washington University, Saint Louis, MO, USA., Dahiya S; Department of Pathology and Immunology, Washington University, Saint Louis, MO, USA., Chen J; Department of Pathology and Immunology, Washington University, Saint Louis, MO, USA., Su Y; Banner Alzheimer's Institute, Phoenix, AZ, USA., Nelson B; Department of Neurology, Washington University, Saint Louis, MO, USA., Jockel-Balsarotti J; Department of Neurology, Washington University, Saint Louis, MO, USA., Drain C; Department of Neurology, Washington University, Saint Louis, MO, USA., Jerome G; Department of Neurology, Washington University, Saint Louis, MO, USA., Morris JC; Department of Neurology, Washington University, Saint Louis, MO, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA., Fagan AM; Department of Neurology, Washington University, Saint Louis, MO, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.; Hope Center for Neurological Disorders, Washington University, Saint Louis, MO, USA., Harms MB; Department of Neurology, Columbia University, New York, NY, USA., Benzinger TLS; Department of Radiology, Washington University, Saint Louis, MO, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.; Department of Neurosurgery, Washington University, Saint Louis, MO, USA., Miller TM; Department of Neurology, Washington University, Saint Louis, MO, USA.; Hope Center for Neurological Disorders, Washington University, Saint Louis, MO, USA., Ances BM; Department of Neurology, Washington University, Saint Louis, MO, USA.; Department of Radiology, Washington University, Saint Louis, MO, USA.; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.; Hope Center for Neurological Disorders, Washington University, Saint Louis, MO, USA.

المصدر: European journal of neurology [Eur J Neurol] 2019 Sep; Vol. 26 (9), pp. 1235-1239. Date of Electronic Publication: 2019 Mar 25.

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

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Positron-Emission Tomography*, C9orf72 Protein/*genetics , Cognitive Dysfunction/*metabolism , Entorhinal Cortex/*metabolism , Tauopathies/*metabolism , tau Proteins/*metabolism, Aged ; Cognitive Dysfunction/diagnostic imaging ; Cognitive Dysfunction/etiology ; Cohort Studies ; DNA Repeat Expansion ; Entorhinal Cortex/diagnostic imaging ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Tauopathies/complications ; Tauopathies/diagnostic imaging