Results 91 to 100 of about 607 (153)
iPSC ir pārprogrammētas somatiskās šūnas, kam piemīt spēja pašatjaunoties un attīstīties par jebkuru ķermeņa šūnu tipu. Pateicoties tām, iPSC kļuva par pētniecības rīku slimību modelēšanā, zāļu izveidē un testēšanā.
Tvoronoviča, Anastasija
core
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
, 2008 The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical ...
HAWKINS, Cynthia +6 more
core +1 more source
, 2015 Presents clinical case the hereditary progressive muscular dystrophy type 2A (calpainopathy). Shows diagnostic difficulties and feature of presents clinical observations.
A. V. Belopasova +7 more
core +1 more source
Clinical variability in calpainopathy: What makes the difference?
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD, is
Anderson LVB; de Paula F; Vainzof M; Passos-Bueno MR; Pavanello R; Matioli SR; Nigro V; Zatz M
core
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
, 2019 \ua92019 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene.
Marjanovic A +16 more
core
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis
Croatian medical journal, 2005 Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is one autosomal recessive muscular disorder caused by mutations in calpain3 (CAPN3) gene. We report results concerning LGMD2A obtained during 6-year long prospective and on going genetic and epidemiological study of muscular dystrophies in Croatia.
openaire
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy
, 2015 Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their pathogenetic mechanisms are still poorly understood.
Angelini C. +3 more
core
Calpainopathy with macrophage-rich, regional inflammatory infiltrates
, 2016 \ua9 2017 Elsevier B.V. Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres.
Houlden H +5 more
core
Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]
Curr Issues Mol BiolBanerjee S +3 more
europepmc +1 more source
Calpainopathy in Chile, first cases reported
Neuromuscular Disorders, 2016 Bevilacqua, Jorge +18 more
openaire +2 more sources