Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients-Reference-Cited by-同舟云学术

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Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients

Published:2019-01-29 Issue:2 Volume:85 Page:251-258
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Santos Diana¹²³,Coelho Teresa⁴,Alves-Ferreira Miguel¹²³,Sequeiros Jorge¹²³,Mendonça Denisa³⁵,Alonso Isabel¹²³,Sousa Alda¹²³,Lemos Carolina¹²³

Affiliation:

1. i3S, Instituto de Investigação e Inovação em Saúde; Universidade do Porto

2. UnIGENe, IBMC, Institute for Molecular and Cell Biology; Universidade do Porto

3. ICBAS, Instituto de Ciências Biomédicas Abel Salazar; Universidade do Porto

4. UCA, Unidade Corino de Andrade; Centro Hospitalar do Porto (CHP)

5. ISPUP, Instituto de Saúde Pública; Universidade do Porto; Porto Portugal

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.25409/fullpdf

Reference50 articles.

1. Pathogenesis of transthyretin amyloidosis;Benson;Amyloid,2012

2. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves;Andrade;Brain,1952

3. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M;Lemos;J Neurol Neurosurg Psychiatry,2014

4. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal);Sousa;Am J Med Genet,1995

5. Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade);Sequeiros;Am J Med Genet,1987

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1. Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability;Journal of Neurology;2024-06-22

2. Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment;The Lancet Neurology;2023-11

3. Neuropathie amyloïde à transthyrétine : du diagnostic au traitement;Bulletin de l'Académie Nationale de Médecine;2023-05

4. TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2;Molecular Neurobiology;2023-03-09

5. Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?;Neural Regeneration Research;2022

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