نتایج جستجو برای: hereditary sensory and motor neuropathy
تعداد نتایج: 16878445 فیلتر نتایج به سال:
This scientific commentary refers to ‘Bi-allelic truncating mutations in VWA1 cause neuromyopathy’, by Deschauer et al. (doi:10.1093/brain/awaa418) and ‘An ancestral 10-bp repeat expansion causes recessive hereditary motor neuropathy’, Pagnamenta (doi:10.1093/brain/awaa420)
In human linkage analysis, many statistical problems without analytical solution could be solved by ad hoc Monte Carlo procedures were efficient computer-simulation methods available for members of family pedigrees. In this paper, a general method is described for randomly generating genotypes at one or more marker loci, given observed phenotypes at loci linked among themselves and with the mar...
OBJECTIVES Balance and motor disturbances are significant symptoms commonly associated with hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT). Although CMT is a progressive neurological disease, comprehensive physiotherapeutic strategies may improve balance and motor patterns, and, therefore, enhance the quality of life (ADL). CASE PRESENTATION A ...
A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where the initial cases were found. It was subsequently identified in other gypsy communities. The disorder, which is of autosomal recessive inheritance, was mapped to chromosome 8q24. It begins consistently in the first decade of life w...
Although paraneoplastic subacute sensory neuronopathy is the most frequent presentation of peripheral neuropathy in patients with anti-Hu antibodies, other neuropathies have been reported. In order to investigate the clinical and electrophysiological manifestations of neuropathies associated with anti-Hu antibodies, we conducted a retrospective study of 20 patients. For the electrophysiological...
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