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    Wyświetlanie 1-3 z 3
    Tytuł:
    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
    Autorzy:
    Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
    Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
    O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
    Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.
    Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
    Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
    Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
    Mozaffar T; Department of Neurology, University of California, Irvine, California, USA.; Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA.
    Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
    Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
    Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, California, USA.
    Pajusalu S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
    Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Hurth K; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
    Cohen JS; Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
    McWalter K; GeneDx, Gaithersburg, Maryland, USA.
    Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
    Crunk A; GeneDx, Gaithersburg, Maryland, USA.
    Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
    Mammen AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
    Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA.
    O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
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    Corporate Authors:
    Undiagnosed Diseases Network
    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 629-640. Date of Electronic Publication: 2024 Feb 04.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Muscular Diseases*/genetics
    Muscular Diseases*/pathology
    Cardiomyopathies*
    Adult ; Humans ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Actinin/genetics ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Is obesity predictive of cardiovascular dysfunction independent of cardiovascular risk factors?
    Autorzy:
    DeVallance E; 1] Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA [2] Center for Cardiovascular and Respiratory Sciences, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Fournier SB; 1] Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA [2] Center for Cardiovascular and Respiratory Sciences, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Donley DA; Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Bonner DE; Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Lee K; Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Frisbee JC; 1] Center for Cardiovascular and Respiratory Sciences, School of Medicine, West Virginia University, Morgantown, WV, USA [2] Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown, WV, USA.
    Chantler PD; 1] Division of Exercise Physiology, School of Medicine, West Virginia University, Morgantown, WV, USA [2] Center for Cardiovascular and Respiratory Sciences, School of Medicine, West Virginia University, Morgantown, WV, USA.
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    Źródło:
    International journal of obesity (2005) [Int J Obes (Lond)] 2015 Feb; Vol. 39 (2), pp. 244-53. Date of Electronic Publication: 2014 Jun 24.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Cardiovascular Diseases/*physiopathology
    Diabetes Mellitus, Type 2/*physiopathology
    Diabetic Angiopathies/*physiopathology
    Hypertension/*physiopathology
    Obesity/*physiopathology
    Ventricular Dysfunction, Left/*physiopathology
    Adult ; Blood Pressure ; Cardiovascular Diseases/etiology ; Cardiovascular Diseases/mortality ; Comorbidity ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/etiology ; Diabetic Angiopathies/mortality ; Female ; Humans ; Hypertension/etiology ; Hypertension/mortality ; Male ; Middle Aged ; Obesity/complications ; Obesity/mortality ; Prognosis ; Risk Factors ; Triglycerides/metabolism ; United States/epidemiology ; Ventricular Dysfunction, Left/etiology ; Ventricular Dysfunction, Left/mortality
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Resistance exercise reduces skeletal muscle cachexia and improves muscle function in rheumatoid arthritis.
    Autorzy:
    Sharif S; Human Performance Laboratory, West Virginia University School of Medicine, Morgantown, WV 26506-9227, USA.
    Thomas JM
    Donley DA
    Gilleland DL
    Bonner DE
    McCrory JL
    Hornsby WG
    Zhao H
    Lively MW
    Hornsby JA
    Alway SE
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    Źródło:
    Case reports in medicine [Case Rep Med] 2011; Vol. 2011, pp. 205691. Date of Electronic Publication: 2011 Dec 10.
    Typ publikacji:
    Case Reports
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-3 z 3

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