Jorge Sequeiros
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
MC Moreira, S Klur, M Watanabe, AH Németh, IL Ber, JC Moniz, ...
Nature genetics 36 (3), 225-227, 2004
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
MC Moreira, C Barbot, N Tachi, N Kozuka, E Uchida, T Gibson, ...
Nature genetics 29 (2), 189-193, 2001
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ...
Neurology 78 (10), 690-695, 2012
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
RG Lafrenière, MZ Cader, JF Poulin, I Andres-Enguix, M Simoneau, ...
Nature medicine 16 (10), 1157-1160, 2010
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
P Maciel, C Gaspar, AL DeStefano, I Silveira, P Coutinho, J Radvany, ...
American journal of human genetics 57 (1), 54, 1995
Epidemiology and clinical aspects of Machado-Joseph disease
J Sequeiros
Advances in neurology 61, 139-153, 1993
Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)‐type I in Povoa do Varzim and Vila do Conde (north of Portugal)
A Sousa, T Coelho, J Barros, J Sequeiros
American journal of medical genetics 60 (6), 512-521, 1995
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, JP Delaunoy, ...
Brain 132 (10), 2688-2698, 2009
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues
S Soini, D Ibarreta, V Anastasiadou, S Aymé, S Braga, M Cornel, ...
European Journal of Human Genetics 14 (5), 588-645, 2006
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG) n allele at the SCA17 locus
I Silveira, C Miranda, L Guimaraes, MC Moreira, I Alonso, P Mendonca, ...
Archives of neurology 59 (4), 623-629, 2002
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG) n
LB Jardim, ML Pereira, I Silveira, A Ferro, J Sequeiros, R Giugliani
Archives of neurology 58 (6), 899-904, 2001
Frataxin knockin mouse
CJ Miranda, MM Santos, K Ohshima, J Smith, L Li, M Bunting, M Cossée, ...
FEBS letters 512 (1-3), 291-297, 2002
Improvement in the molecular diagnosis of Machado-Joseph disease
P Maciel, M do Carmo Costa, A Ferro, M Rousseau, CS Santos, C Gaspar, ...
Archives of neurology 58 (11), 1821-1827, 2001
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
C Gaspar, I Lopes-Cendes, S Hayes, J Goto, K Arvidsson, A Dias, ...
The American Journal of Human Genetics 68 (2), 523-528, 2001
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
P Coutinho, L Ruano, JL Loureiro, VT Cruz, J Barros, A Tuna, C Barbot, ...
JAMA neurology 70 (6), 746-755, 2013
Ataxia rating scales—psychometric profiles, natural history and their application in clinical trials
JAM Saute, KC Donis, C Serrano-Munuera, D Genis, LT Ramirez, ...
The Cerebellum 11, 488-504, 2012
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4
J Bras, I Alonso, C Barbot, MM Costa, L Darwent, T Orme, J Sequeiros, ...
The American Journal of Human Genetics 96 (3), 474-479, 2015
A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia
AI Seixas, JR Loureiro, C Costa, A Ordóñez-Ugalde, H Marcelino, ...
The American Journal of Human Genetics 101 (1), 87-103, 2017
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I Silveira, I Lopes-Cendes, S Kish, P Maciel, C Gaspar, P Coutinho, ...
Neurology 46 (1), 214-218, 1996
What is ideal genetic counselling? A survey of current international guidelines
E Rantanen, M Hietala, U Kristoffersson, I Nippert, J Schmidtke, ...
European Journal of Human Genetics 16 (4), 445-452, 2008
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