Autor: "Meilleur KG" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells.
Autorzy:: Greer LK; National Institute On Drug Abuse, 251 Bayview Blvd, Baltimore, MD, 21224, USA.
Meilleur KG; National Institute of Nursing Research, Bethesda, MD, USA.
Harvey BK; National Institute On Drug Abuse, 251 Bayview Blvd, Baltimore, MD, 21224, USA. .
Wires ES; National Institute On Drug Abuse, 251 Bayview Blvd, Baltimore, MD, 21224, USA. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jun 13; Vol. 17 (1), pp. 225. Date of Electronic Publication: 2022 Jun 13.
Typ publikacji:: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
MeSH Terms:: Endoplasmic Reticulum*/metabolism
Muscular Diseases*/genetics
Ryanodine Receptor Calcium Release Channel*/genetics
Ryanodine Receptor Calcium Release Channel*/metabolism
Sarcoplasmic Reticulum*/metabolism
Biomarkers/metabolism ; Calcium/metabolism ; Humans ; Muscle Fibers, Skeletal/metabolism ; Muscle, Skeletal/metabolism ; Proteins/metabolism ; Proteomics

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Skocz do pozycji: 2.

Tytuł:: Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Autorzy:: Lawal TA; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Todd JJ; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Witherspoon JW; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Dowling JJ; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada.
Hamilton SL; Molecular Physiology & Biophysics, Baylor College of Medicine, Houston, TX, USA.
Meilleur KG; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Dirksen RT; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.; Pokaż więcej
Źródło:: Skeletal muscle [Skelet Muscle] 2020 Nov 16; Vol. 10 (1), pp. 32. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Review
MeSH Terms:: Neuromuscular Diseases/*metabolism
Ryanodine Receptor Calcium Release Channel/*metabolism
Animals ; Humans ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/pathology ; Phenotype ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/standards ; Terminology as Topic

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Skocz do pozycji: 3.

Tytuł:: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Autorzy:: Capella-Peris C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Cosgrove MM; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Emile-Backer M; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Elliott JS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Kuo A; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Wakim PG; Biostatistics and Clinical Epidemiology Service, National Institutes of Health Clinical Center, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.; Pokaż więcej
Źródło:: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2020 Jun; Vol. 29 (6), pp. 1641-1653. Date of Electronic Publication: 2020 Feb 10.
Typ publikacji:: Journal Article
MeSH Terms:: Acetylcysteine/*therapeutic use
Muscular Diseases/*psychology
Quality of Life/*psychology
Ryanodine Receptor Calcium Release Channel/*metabolism
Adaptation, Psychological ; Adult ; Fatigue/diagnosis ; Female ; Health Status ; Humans

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Skocz do pozycji: 4.

Tytuł:: 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.
Autorzy:: Witherspoon JW; National Institute of Nursing Research, NIH, Bethesda, MD, USA. .
Vasavada RP; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Waite MR; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Shelton M; National Institute of Nursing Research, NIH, Bethesda, MD, USA.
Chrismer IC; National Institute of Nursing Research, NIH, Bethesda, MD, USA.
Wakim PG; Biostatistics and Clinical Epidemiology, NIH, Bethesda, MD, USA.
Jain MS; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Bönnemann CG; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Meilleur KG; National Institute of Nursing Research, NIH, Bethesda, MD, USA.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 03; Vol. 13 (1), pp. 105. Date of Electronic Publication: 2018 Jul 03.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Muscular Diseases/*diagnosis
Muscular Diseases/*metabolism
Ryanodine Receptor Calcium Release Channel/*metabolism
Walk Test/*methods
Activities of Daily Living ; Adolescent ; Adult ; Child ; Disease Progression ; Fatigue/diagnosis ; Fatigue/metabolism ; Female ; Humans ; Male ; Middle Aged ; Muscle Weakness/metabolism ; Young Adult

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Skocz do pozycji: 5.

Tytuł:: Review of RyR1 pathway and associated pathomechanisms.
Autorzy:: Witherspoon JW; National Institute of Nursing Research/Tissue Injury Branch/Neuromuscular Symptoms Unit, National Institutes of Health, Bethesda, MD, 20814, USA. .
Meilleur KG; National Institute of Nursing Research/Tissue Injury Branch/Neuromuscular Symptoms Unit, National Institutes of Health, Bethesda, MD, 20814, USA.; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2016 Nov 17; Vol. 4 (1), pp. 121. Date of Electronic Publication: 2016 Nov 17.
Typ publikacji:: Journal Article; Review; Research Support, N.I.H., Intramural
MeSH Terms:: Ryanodine Receptor Calcium Release Channel/*metabolism
Animals ; Humans ; Muscle, Skeletal/metabolism

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Skocz do pozycji: 6.

Tytuł:: Genetics and genomic medicine in Mali: challenges and future perspectives.
Autorzy:: Landouré G; Service de NeurologieCentre Hospitalier Universitaire du Point 'G'BamakoMali; Neurogenetics BranchNational Institute of Neurological Disorders and Stroke (NINDS)National Institutes of Health (NIH)BethesdaMaryland.
Samassékou O; Manitoba Institute of cell BiologyUniversity of ManibotaWinnipegCanada; Service de cytogenetique et de biologie reproductiveInstitut National de Recherche en Santé Publique (INRSP)BamakoMali.
Traoré M; Service de cytogenetique et de biologie reproductive Institut National de Recherche en Santé Publique (INRSP) Bamako Mali.
Meilleur KG; Tissue Injury Branch National Institute of Nursing Research (NINR) NIH Bethesda Maryland.
Guinto CO; Service de Neurologie Centre Hospitalier Universitaire du Point 'G' Bamako Mali.
Burnett BG; Departments of Anatomy, Physiology and Genetics Uniformed Services University of the Health Sciences (USUHS) Bethesda Maryland.
Sumner CJ; Department of Neurology Johns Hopkins Hospital Baltimore Maryland.
Fischbeck KH; Neurogenetics Branch National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) Bethesda Maryland.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2016 Mar 17; Vol. 4 (2), pp. 126-34. Date of Electronic Publication: 2016 Mar 17 (Print Publication: 2016).
Typ publikacji:: Journal Article

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Skocz do pozycji: 7.

Tytuł:: Transferability and fine mapping of genome-wide associated loci for lipids in African Americans.
Autorzy:: Adeyemo A; Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. />Bentley AR
Meilleur KG
Doumatey AP
Chen G
Zhou J
Shriner D
Huang H
Herbert A
Gerry NP
Christman MF
Rotimi CN; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2012 Sep 21; Vol. 13, pp. 88. Date of Electronic Publication: 2012 Sep 21.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Loci*
Black or African American/*genetics
Cholesterol/*blood
Cholesterol, HDL/*blood
Cholesterol, LDL/*blood
Triglycerides/*blood
Cardiovascular Diseases/genetics ; Diabetes Mellitus, Type 2/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Linkage Disequilibrium ; Male ; Metabolic Diseases/genetics ; Middle Aged ; Polymorphism, Single Nucleotide ; White People/genetics

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