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	Provedor de dados BJMBR (3) Autor Marques Jr.,W. (3) Barreira,A.A. (2) Abou-Sleiman,P.M. (1) Davis,M.B. (1) Marques,V.D. (1) Silva Jr.,W.A. (1) Sobreira,C.S. (1) Sweeney,M.G. (1) Wood,N.W. (1) Zago,M.A. (1) Mais... Palavra-chave 17p duplication (1) Autonomic neuropathies (1) CMT1A (1) Charcot-Marie-Tooth disease (1) Hereditary motor neuronopathies (1) Hotspot (1) Median nerve (1) Median nerve potential (1) Near nerve potential (1) Nerve action potential (1) Nerve conduction study (1) PMP22 point mutation (1) Sensory action potential (1) Sensory conduction study (1) Spinal muscular atrophy (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2004 (1) 2003 (1) 1997 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication BJMBR Marques Jr.,W.; Sweeney,M.G.; Wood,N.W.. The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Charcot-Marie-Tooth disease; CMT1A; PMP22 point mutation; 17p duplication; Hotspot. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000018 Normal median near nerve potential BJMBR Marques Jr.,W.; Barreira,A.A.. In routine studies of sensory nerve conduction, only fibers <!-- $MVD$:face("Symbol") --><FONT FACE="Symbol">e</font>7 µm in diameter are analyzed. The late components which originate from thinner fibers are not detected. This explains why a normal sensory action potential (SAP) may be recorded in patients with peripheral neuropathies and sensory loss. In the present study we investigated the late component of the median SAP with a near nerve needle electrode technique in 14 normal volunteers (7 men and 7 women), aged 34.5 ± 14.8 years. The stimulus consisted of rectangular pulses of 0.2-ms duration at a frequency of 1 Hz with an intensity at least 6 times greater than the threshold value for the main component. Five hundred to 2000 sweep... Tipo: Info:eu-repo/semantics/article Palavras-chave: Nerve conduction study; Sensory conduction study; Near nerve potential; Nerve action potential; Sensory action potential; Median nerve; Median nerve potential. Ano: 1997 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997001200008 Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3 BJMBR Marques Jr.,W.; Davis,M.B.; Abou-Sleiman,P.M.; Marques,V.D.; Silva Jr.,W.A.; Zago,M.A.; Sobreira,C.S.; Barreira,A.A.. The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1) to the respective locus that was mapped to a 14.5 cM region on... Tipo: Info:eu-repo/semantics/article Palavras-chave: Spinal muscular atrophy; Hereditary motor neuronopathies; Autonomic neuropathies. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100022 Registros recuperados: 3 Primeira ... 1 ... Última

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