Results 51 to 60 of about 2,447 (165)

Наследственный транстиретиновый амилоидоз

, 2020
Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis.
T. A. Adyan, Т. А. Адян, А. В. Поляков, A. V. Polyakov   +3 more
core   +1 more source

Mutational epidemiology of transthyretin familial amyloidotic polyneuropathy in a brazilian terciary center of peripheral neuropathy

, 2016
Introdução: A amiloidose transtiretina é uma doença autossômica dominante decorrente de uma proteína transtiretina (TTR) variante, que sofre uma mudança conformacional e origina um tetrâmero de TTR instável, passo que é decisivo para o início da formação
Moreira, Carolina Lavigne, Carolina Lavigne Moreira   +1 more
core   +1 more source

Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy

Clinical Neurophysiology Practice, 2018
Small fiber polyneuropathy (SFP) is a common heralding clinical manifestation of damage to the nervous system in patients with familial amyloidosis. The diagnosis of SFP is a significant factor in the decision to treat a previously asymptomatic gene carrier, as treatment would prevent irreversible nerve damage.
Mar Guasp, Alejandro A. Köhler, Michela Campolo, Jordi Casanova-Molla, Josep Valls-Sole   +4 more
openaire   +3 more sources

Uso del test de cuantificación sensitiva para el estudio de la neuropatía de fibra pequeña

, 2014
Introducción\ud La mutación genética Val30Met de la proteína transtiretina (TTR) es causante de la polineuropatía amiloidótica familiar, comprometiendo en fases iniciales las fibras nerviosas pequeñas (mielinizadas Aδ y amielínicas tipo C), involucradas ...
Castro, José, Conceição, Isabel, Díaz Campos, Andrés   +2 more
core   +1 more source

Familial Amyloid Neuropathy [PDF]

, 2020
openaire   +1 more source

Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE)

, 2016
International ...
Gorram, Farida, Funalot, Benoît, Alarcon, Flora, Planté-Bordeneuve, And Violaine, Damy, Thibaud, Fanen, Pascale, Hébrard, Bérénice, Nuel, Gregory, Perdry, Hervé   +8 more
core   +1 more source

Pain and neurophysiological characterization of small fiber involvement in peripheral neuropathies

, 2013
L'objectif de notre travail était dans un premier temps d'étudier les liens entre l'altération des fibres nerveuses de petit diamètre et la présence de douleurs chez des patients ayant une neuropathie périphérique. Notre deuxième objectif était d'évaluer
Ng Wing Tin, Sophie
core  

The sHsp expression signature in the brain and modulation in models of chronic neurodegeneration

, 2010
Intrinsic protein folding pathways are modulated by molecular chaperones, such as the diversegroup of heat shock proteins (Hsps). Among these is the small heat shock protein (sHsp)family which in the mammalian genome consists of 10 low molecular weight ...
Quraishe, Shmma
core  

Neuropathie amyloide familiale (description d'un phénotype multifocal avec début aux membres supérieurs, à partir d'une série de 20 cas)

, 2012
Le début aux membres supérieurs des Neuropathies Amyloïdes Familiales (NAF) avait été décrit pour la première fois en 1956 par Rukavina et depuis, seulement quelques présentations ont été rapportées dans la littérature.
THEAUDIN, Marie, YALO, Bertrand
core  

Cryptogenic Neuropathy - a retrospective analysis - Transthyretin-related familial amyloid polyneuropathy - differential diagnostic pathway [PDF]

Neurologie pro praxi, 2020
Jana Junkerová, Eva Kovalová
openaire   +1 more source