The molecular neuropathology of the muscular dystrophies: a review and update

scientific article

The molecular neuropathology of the muscular dystrophies: a review and update is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1093/JNEN/59.12.1019
P698PubMed publication ID11138922
P5875ResearchGate publication ID12190144

P2093author name stringLidov HG
P2860cites workMutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyQ22009039
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophyQ22009998
Myoferlin, a candidate gene and potential modifier of muscular dystrophyQ22010963
Myotilin is mutated in limb girdle muscular dystrophy 1AQ24290137
Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophyQ24307833
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D geneQ24312044
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoproteinQ24312087
Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complexQ24312712
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12Q24313751
epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2DQ24314855
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyQ24317764
The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relativesQ24318971
Unusual type of benign x-linked muscular dystrophyQ24519418
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinQ24632485
Dystrobrevin and dystrophin: an interaction through coiled-coil motifsQ24648657
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathyQ24671376
Molecular organization of sarcoglycan complex in mouse myotubes in cultureQ24685886
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 proteinQ28118471
Telethonin, a novel sarcomeric protein of heart and skeletal muscleQ28118954
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathyQ28119153
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system diseaseQ28139053
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophyQ28139598
Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapsesQ28141198
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninQ28143777
Direct interaction between emerin and lamin AQ28144706
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2EQ28144858
Caveolin-3 in muscular dystrophyQ28267179
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyQ28267252
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyQ28281738
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophiesQ28299653
Differential Association of Syntrophin Pairs with the Dystrophin ComplexQ28584710
Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null miceQ28590908
Dystrophin: the protein product of the Duchenne muscular dystrophy locusQ29618077
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsQ30050310
Disorganization of dystrophin costameric lattice in Becker muscular dystrophyQ32121496
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localizationQ33192213
EmerinQ33758605
Plasma membrane cytoskeleton of muscle: a fine structural analysisQ33840927
The nuclear envelope, muscular dystrophy and gene expressionQ33877078
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutationsQ34324968
Identification of the Syrian hamster cardiomyopathy gene.Q34421233
Muscular dystrophies and the dystrophin-glycoprotein complexQ34425741
Muscle degeneration without mechanical injury in sarcoglycan deficiencyQ35630800
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2AQ35753488
Genetic and clinical correlations of Xp21 muscular dystrophyQ35848767
Complementary distributions of vinculin and dystrophin define two distinct sarcolemma domains in smooth muscleQ36233031
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscleQ36530367
Dystrophins in vertebrates and invertebratesQ38553135
Dystrophin abnormalities in Duchenne/Becker muscular dystrophyQ38768990
The structural and functional diversity of dystrophinQ40644356
Dystrophin-associated proteins in muscular dystrophyQ40934932
Dystrophin and its isoformsQ41160193
Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeletonQ41160202
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophyQ41925866
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusQ42658269
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian populationQ43903579
Extraocular muscles are spared in advanced Duchenne dystrophyQ44116772
Dominantly inherited dilated cardiomyopathyQ44312253
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imagingQ48224297
Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the proteinQ48280459
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophyQ48311793
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural studyQ48554926
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chainQ48713560
The central nervous system in Duchenne muscular dystrophyQ49095766
Living history biography: Peter Emil Becker.Q52405553
Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophyQ56974391
Mutation analysis in emery-dreifuss muscular dystrophyQ57270390
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mappingQ57398314
X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sampleQ57640138
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminusQ59070435
P433issue12
P304page(s)1019-1030
P577publication date2000-12-01
P1433published inJournal of Neuropathology & Experimental NeurologyQ15716771
P1476titleThe molecular neuropathology of the muscular dystrophies: a review and update
P478volume59

Reverse relations

cites work (P2860)
Q91974710Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy
Q33781765Muscle biopsies in children--an evaluation of histopathology and clinical value during a 5-year period
Q44447796Two children with muscular dystrophies ascertained due to referral for diagnosis of autism
Q48382666Visuospatial attention disturbance in Duchenne muscular dystrophy

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