Results 41 to 50 of about 1,370 (166)

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

When proteases reshape barriers: Basement membrane remodelling in development, wound healing and tumour progression

The FEBS Journal, Volume 293, Issue 13, Page 3954-3972, July 2026.
Basement membrane (BM) homeostasis relies on a balance between integrity, controlled remodelling and pathological degradation. Increased protease expression beneath the BM, along with reduced levels of endogenous protease inhibitors, drives the transition from a continuous, protective barrier to a discontinuous interface.
Clara Legendre, Guila Dayan, Patricia Rousselle   +2 more
wiley   +1 more source

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, Lacramioara Fabian, Adeel Sheikh, Ramil Noche, Xiucheng Cui, Steven A Moore, James J Dowling   +6 more
openaire   +2 more sources

Merosin-negative congenital muscular dystrophy: Report of five cases

Journal of Pediatric Neurosciences, 2015
Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2. Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A.
Faruk Incecik, Ozlem M Herguner, Serdar Ceylaner, Sakir Altunbasak   +3 more
doaj   +1 more source

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, James J. Dowling, James J. Dowling, James J. Dowling   +3 more
doaj   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

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, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 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, U Aydingöz, N Başgün, B Talim, E Karaağaoğlu, H Topaloğlu   +5 more
doaj  

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, Emma M. J. Passchier, Freya M. Kirwan, Nelda Antonovaite, Serena Camerini, Maria S. Brignone, Amélie Freal, Huibert D. Mansvelder, Elena Ambrosini, Marjo S. van der Knaap, Rogier Min   +10 more
wiley   +1 more source

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, Beril Talim, Gulsev Kale, Pervin Dincer   +3 more
doaj   +1 more source

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, Shlomit Aga-Mizrachi, Edva Elmakayes, Nurit Yanay, Keren Ettinger, Moran Elbaz, Zivia Brunschwig, Oshrat Dadush, Galit Elad-Sfadia, Roni Haklai, Yoel Kloog, Joab Chapman, Shimon Reif   +12 more
doaj   +1 more source