Results 71 to 80 of about 841 (164)
, 1995 Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the establishment of a 10-12 Mb YAC contig encompassing the morbid locus.
Richard, I. +4 more
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Nova abordagem no diagnóstico diferencial de doentes Portugueses com LGMD2A (ou Calpainopatia)
, 2012 INTRODUÇÃO A Distrofia Muscular das Cinturas tipo 2A (Limb girdle muscular dystrophy type 2A, LGMD2A) ou Calpainopatia é umas das formas mais frequentes de Distrofia Muscular das Cinturas (LGMD), de transmissão autossómica recessiva.
Maia, Nuno +6 more
core
Khyber Medical University Journal, 2016 Objectives: To investigate molecular pathogenesis of the disease and to significantly improve diagnosis and understanding of muscular dystrophy in Pakistani population.
Muhammad Jaseem Khan
doaj
Refining the molecular characterization of calpainopathy (LGMD2A) patients
, 2011 Introduction: Mutations in the gene CAPN3 are responsible for calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A), one of the most frequent forms of LGMD.
Maia, Nuno +3 more
core
, 2017 Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterised by muscle wasting and progressive degeneration of proximal muscles because of mutations in the CAPN3 gene.
Ana Aiastui +5 more
core +1 more source
, 2022 Myalgic Encephalomyelitis or Chronic Fatigue Syndrome (ME/CFS) is relatively common in adults and children and young people (CYP). To receive a diagnosis, CYP and adults must have: debilitating fatigue made worse by activity, worsening symptoms after ...
GEORGIA TRENEMAN-EVANS
core +1 more source
, 2007 This PhD thesis was directed towards a better understanding of calpain 3 function, especially possible involvement of calpain 3 and titin relationship in the ethiopathogenesis of LGMD2A.
Milić, Astrid
core
International Journal of Molecular Medicine, 2006 StAR (steroidogenic acute regulatory) proteins and proteins with StAR-related lipid transfer (START) domains are involved in lipid transport and metabolism, signal transduction, and transcriptional regulation. In this present study we characterized the StARD9 gene by bioinformatical methods. The human StARD9 gene (syn. KIAA1300), consisting of 11 exons,
Niels, Halama +2 more
openaire +3 more sources
, 2014 *P≤0.05 vs. control. **P≤0.01 vs. control. All data were normalized to total protein levels (Ponceau S stain) and represent averages of age/gender-matched controls (N = 3–4; white bars) and LGMD2A patients (N = 4; black bars).
Fatimah Alqarni (606588) +9 more
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, 2014 *Significantly lower ATP synthase expression in calpain-3 deficient muscle (P≤0.05). All Western blot data were normalized to total protein levels (Ponceau S stain) and represent averages of age/gender-matched controls (N = 7 for OXPHOS and enzyme assays;
Fatimah Alqarni (606588) +9 more
core +1 more source