Results 21 to 30 of about 21,194 (199)
The congenital muscular dystrophies
Annals of the Child Neurology Society, 2023 AbstractBackgroundCongenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders.ResultsCMD is characterized by ...
Haluk Topaloğlu, Bita Poorshiri
openaire +2 more sources
Advances in imaging of brain abnormalities in neuromuscular disease
Therapeutic Advances in Neurological Disorders, 2019 Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj +1 more source
Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
doaj +1 more source
PLoS ONE, 2012 Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta +10 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2006 Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution.
Schachter Harry, Vajsar Jiri
doaj +1 more source
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
Frontiers in Molecular Neuroscience, 2020 Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211.
Stefano Carlo Previtali +2 more
doaj +1 more source
Педиатрическая фармакология, 2014 Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of ...
O. A. Klochkova +2 more
doaj +1 more source
Journal of Medical Case Reports, 2011 Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet +5 more
doaj +1 more source
Glycosylation in Congenital Muscular Dystrophies
Biological and Pharmaceutical Bulletin, 2003 Mammalian cells produce many glycoproteins, i.e., proteins with covalently attached sugar chains. Recent advances in glycobiology have revealed the importance of sugar chains as biosignals for multi-cellular organisms including cell-cell communication, intracellular signaling, protein folding, and targeting of proteins within cells.
Endo, Tamao, Toda, Tatsushi
openaire +3 more sources
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
Advanced Science, EarlyView.By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen +11 more
wiley +1 more source