Results 131 to 140 of about 2,447 (165)
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[Indications for simultaneous origin of a German and American family with type II hereditary amyloid neuropathy].

Der Nervenarzt, 1999
The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin ...
S, Seddigh   +4 more
openaire   +1 more source

Familial amyloid neuropathy: Unusual etiology in clinical practice

Neurology India, 2012
Ashwani K, Uttam   +3 more
openaire   +2 more sources

'Nonprealbumin‐related' familial amyloid poly neuropathy

Neurology, 1988
S, Ueno   +4 more
openaire   +2 more sources

[The place of type I familial amyloid neuropathy in amylosis. Anatomo-clinical study of a case in France].

Annales de pathologie, 1984
The clinical and pathologic findings of a case of amyloidogenic heredo familial neuropathy type I is presented. The patient is a man, died at 46 years. The examination of a nerve biopsy, the clinical evolution and the family history are representative of the condition.
M B, Delisle, H, Bouissou, G, Geraud
openaire   +1 more source

Improvement of familial amyloid neuropathy following liver transplantation

Neuromuscular Disorders, 1996
P.R. Bergethon   +5 more
openaire   +1 more source

[Late onset of type I familial amyloid neuropathy: results of biopsy from accessory salivary glands].

Revue neurologique, 1999
Familial amyloidotic polyneuropathy (FAP) type I is usually characterized by onset in the third decade, autonomic nervous system failure, and heart block conduction occurring after the onset of neurological symptoms. A 74-year-old woman, with past medical history of a third degree heart block treated by a pace-maker, was hospitalized because of an ...
A, Mackowiak   +4 more
openaire   +1 more source

3D Blockage Mapping for Identifying Familial Point Mutations in Single Amyloid‐β Peptides with a Nanopore

Angewandte Chemie - International Edition, 2022
Zheng-Li Hu   +2 more
exaly  

Biomarkers for Rapid Progression in Familial Amyloid Neuropathy (P5.045)

Neurology, 2016
Sung-Tsang Hsieh, Chi-Chao Chao
openaire   +1 more source

Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration

Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 2003
Gérard Said
exaly  

Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis

Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 2011
Haruki Koike   +2 more
exaly  

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