scholarly article | Q13442814 |
P50 | author | Kathryn North | Q21062251 |
Nigel F Clarke | Q118704222 | ||
P2093 | author name string | Ying Hu | |
Robert L Smith | |||
Leigh B Waddell | |||
Susan Arbuckle | |||
Carsten G Bönnemann | |||
Monkol Lek | |||
Frances J Evesson | |||
Jenny Tran | |||
Min-Xia Wang | |||
Xi F Zheng | |||
P2860 | cites work | Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain | Q24304371 |
A map of human genome variation from population-scale sequencing | Q24617794 | ||
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 | Q24642919 | ||
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 | Q24643534 | ||
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy | Q24647512 | ||
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12 | Q24678868 | ||
A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
Telethonin, a novel sarcomeric protein of heart and skeletal muscle | Q28118954 | ||
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin | Q28143777 | ||
Telethonin protein expression in neuromuscular disorders | Q28207504 | ||
Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspases | Q28238072 | ||
Mutations in myotilin cause myofibrillar myopathy | Q28258812 | ||
BAG3 deficiency results in fulminant myopathy and early lethality | Q28585764 | ||
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3 | Q30438210 | ||
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations | Q33543165 | ||
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population | Q33685609 | ||
Making sense of the limb-girdle muscular dystrophies | Q33701932 | ||
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes | Q34080106 | ||
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31 | Q34388211 | ||
Mutation in BAG3 causes severe dominant childhood muscular dystrophy | Q34904884 | ||
The 10 autosomal recessive limb-girdle muscular dystrophies | Q35201105 | ||
Limb-girdle muscular dystrophies--from genetics to molecular pathology | Q35714351 | ||
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient | Q36992611 | ||
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy | Q37328469 | ||
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy | Q37408211 | ||
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. | Q37839443 | ||
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy | Q40981277 | ||
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes | Q46043728 | ||
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002 | Q57398182 | ||
NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY | Q58036266 | ||
Diagnosis and etiology of congenital muscular dystrophy | Q80412916 | ||
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis | Q81357179 | ||
The 2011 version of the gene table of neuromuscular disorders | Q82795826 | ||
P433 | issue | 11 | |
P921 | main subject | muscular dystrophy | Q1137767 |
P304 | page(s) | 776-781 | |
P577 | publication date | 2011-06-17 | |
P1433 | published in | Neuromuscular Disorders | Q1981326 |
P1476 | title | A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients | |
P478 | volume | 21 |
Q91623053 | FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy |
Q33940251 | Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. |
Q64039438 | Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin |
Q38471353 | The sarcomeric M-region: a molecular command center for diverse cellular processes |
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