Results 41 to 50 of about 1,335 (167)
Arquivos de Neuro-Psiquiatria, 2005 A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida.
Regina Toni Loureiro de Freitas +3 more
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O'zbekiston me'morchilik merosining shakllanishi
, 2022 Maqolada, O‘zbekiston me’morchiligi merosida minora va minorasimon inshootlarni qadimdan shakllangan namunalari, xududimizning turli shahar va maskanlari me’moriy tizimida alohida o‘rin tutgan. Sharq me’morchiligida minoralarni turli me’moriy yechimi va funksional sifatiga ega bo‘lgan ko‘plab namunalari bunyod etilgani haqida xikoya qilinadi.
openaire +2 more sources
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy
Human Molecular Genetics, 2021 AbstractCongenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has been successfully developed for MDC1A.
Sarah J Smith +6 more
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Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
Frontiers in Molecular Neuroscience, 2020 LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Lacramioara Fabian +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni +9 more
wiley +1 more source
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Glia, Volume 74, Issue 2, February 2026.Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source
MR imaging of pelvic and thigh muscles in congenital muscular dystrophy
The Turkish Journal of Pediatrics, 2001 To define and compare the magnetic resonance (MR) imaging findings of pelvic and thigh muscles in merosin-deficient and merosin-positive congenital muscular dystrophy, 10 patients with merosin-positive and six patients with merosin-deficient ...
A Oto +5 more
doaj
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy
BMC Neurology, 2018 Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta +3 more
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The Ras antagonist, farnesylthiosalicylic acid (FTS), decreases fibrosis and improves muscle strength in dy/dy mouse model of muscular dystrophy. [PDF]
PLoS ONE, 2011 The Ras superfamily of guanosine-triphosphate (GTP)-binding proteins regulates a diverse spectrum of intracellular processes involved in inflammation and fibrosis.
Yoram Nevo +12 more
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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian Journal of Pathology and Microbiology, 2022 Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
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