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Neuromuscular Disorders : NMD|May 5, 1998
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolateF Duclos, O Broux, N Bourg, et al.
Muscle & Nerve|October 15, 1998
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese familiesH Kawai, M Akaike, M Kunishige, et al.
Molecular and Cellular Neurosciences|July 17, 2007
SREBP-1c expression in Schwann cells is affected by diabetes and nutritional statusAnne-Sophie de Preux, Katinka Goosen, Weixian Zhang, et al.
American Journal of Medical Genetics. Part A|March 21, 2014
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr typeLuisa Bonafé, Jinlong Liang, Maria W Gorna, et al.
Drug and Alcohol Dependence|October 1, 2023
Synthetic contraceptive hormones occlude the ability of nicotine to reduce ethanol consumption in ovary-intact female ratsErin E Maher, Ashley M White, Ashley Craig, et al.
Nature Genetics|September 10, 1998
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BR Bashir, S Britton, T Strachan, et al.
American Journal of Human Genetics|October 22, 2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variantAndrew Dauber, Christelle Golzio, Cécile Guenot, et al.
Molecular and Biochemical Parasitology|May 12, 2009
Molecular characterisation of kappa-5, a major antigenic glycoprotein from Schistosoma mansoni eggsG Schramm, J V Hamilton, C I A Balog, et al.
Plos One|April 16, 2011
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanomaArmand Valsesia, Donata Rimoldi, Danielle Martinet, et al.
Immunity|September 5, 1998
Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatallyE E Varfolomeev, M Schuchmann, V Luria, et al.
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