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Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs
(Academia Brasileira de Neurologia - ABNEURO, 2011)
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the ...
Terapia gênica em distrofias hereditárias de retina
(Conselho Brasileiro de Oftalmologia, 2009-08-01)
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells ...
Astenia dérmica regional hereditária equina: diagnóstico, ocorrência no Brasil e caracterização clinica
(Universidade Estadual Paulista (UNESP), 2014)
Astenia dérmica regional hereditária equina: diagnóstico, ocorrência no Brasil e caracterização clinica
(Universidade Estadual Paulista (Unesp), 2014)
Diagnóstico molecular e aconselhamento genético na doença de Huntington: um estudo de caso
(Universidade Tecnológica Federal do ParanáDois VizinhosBrasilLicenciatura em Ciências BiológicasUTFPR, 2021-08-27)
Huntington's Disease (HD) is a genetic, rare and degenerative disease that affects about 5 to 10 people per 100,000. HD has no treatment and its diagnosis is made by counting the CGA nucleotide repeats in the gene through ...