review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Lidov HG | |
P2860 | cites work | Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy | Q22009039 |
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy | Q22009998 | ||
Myoferlin, a candidate gene and potential modifier of muscular dystrophy | Q22010963 | ||
Myotilin is mutated in limb girdle muscular dystrophy 1A | Q24290137 | ||
Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy | Q24307833 | ||
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene | Q24312044 | ||
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein | Q24312087 | ||
Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex | Q24312712 | ||
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 | Q24313751 | ||
epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D | Q24314855 | ||
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy | Q24317764 | ||
The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives | Q24318971 | ||
Unusual type of benign x-linked muscular dystrophy | Q24519418 | ||
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein | Q24632485 | ||
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs | Q24648657 | ||
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy | Q24671376 | ||
Molecular organization of sarcoglycan complex in mouse myotubes in culture | Q24685886 | ||
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) | Q28115024 | ||
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein | Q28118471 | ||
Telethonin, a novel sarcomeric protein of heart and skeletal muscle | Q28118954 | ||
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy | Q28119153 | ||
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease | Q28139053 | ||
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy | Q28139598 | ||
Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses | Q28141198 | ||
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin | Q28143777 | ||
Direct interaction between emerin and lamin A | Q28144706 | ||
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E | Q28144858 | ||
Caveolin-3 in muscular dystrophy | Q28267179 | ||
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy | Q28267252 | ||
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy | Q28281738 | ||
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies | Q28299653 | ||
Differential Association of Syntrophin Pairs with the Dystrophin Complex | Q28584710 | ||
Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice | Q28590908 | ||
Dystrophin: the protein product of the Duchenne muscular dystrophy locus | Q29618077 | ||
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals | Q30050310 | ||
Disorganization of dystrophin costameric lattice in Becker muscular dystrophy | Q32121496 | ||
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization | Q33192213 | ||
Emerin | Q33758605 | ||
Plasma membrane cytoskeleton of muscle: a fine structural analysis | Q33840927 | ||
The nuclear envelope, muscular dystrophy and gene expression | Q33877078 | ||
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations | Q34324968 | ||
Identification of the Syrian hamster cardiomyopathy gene. | Q34421233 | ||
Muscular dystrophies and the dystrophin-glycoprotein complex | Q34425741 | ||
Muscle degeneration without mechanical injury in sarcoglycan deficiency | Q35630800 | ||
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A | Q35753488 | ||
Genetic and clinical correlations of Xp21 muscular dystrophy | Q35848767 | ||
Complementary distributions of vinculin and dystrophin define two distinct sarcolemma domains in smooth muscle | Q36233031 | ||
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle | Q36530367 | ||
Dystrophins in vertebrates and invertebrates | Q38553135 | ||
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy | Q38768990 | ||
The structural and functional diversity of dystrophin | Q40644356 | ||
Dystrophin-associated proteins in muscular dystrophy | Q40934932 | ||
Dystrophin and its isoforms | Q41160193 | ||
Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton | Q41160202 | ||
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy | Q41925866 | ||
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus | Q42658269 | ||
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population | Q43903579 | ||
Extraocular muscles are spared in advanced Duchenne dystrophy | Q44116772 | ||
Dominantly inherited dilated cardiomyopathy | Q44312253 | ||
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging | Q48224297 | ||
Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein | Q48280459 | ||
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy | Q48311793 | ||
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study | Q48554926 | ||
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain | Q48713560 | ||
The central nervous system in Duchenne muscular dystrophy | Q49095766 | ||
Living history biography: Peter Emil Becker. | Q52405553 | ||
Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy | Q56974391 | ||
Mutation analysis in emery-dreifuss muscular dystrophy | Q57270390 | ||
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping | Q57398314 | ||
X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample | Q57640138 | ||
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus | Q59070435 | ||
P433 | issue | 12 | |
P304 | page(s) | 1019-1030 | |
P577 | publication date | 2000-12-01 | |
P1433 | published in | Journal of Neuropathology & Experimental Neurology | Q15716771 |
P1476 | title | The molecular neuropathology of the muscular dystrophies: a review and update | |
P478 | volume | 59 |
Q91974710 | Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy |
Q33781765 | Muscle biopsies in children--an evaluation of histopathology and clinical value during a 5-year period |
Q44447796 | Two children with muscular dystrophies ascertained due to referral for diagnosis of autism |
Q48382666 | Visuospatial attention disturbance in Duchenne muscular dystrophy |
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