J
João Guimarães
Researcher at British Hospital
Publications - 31
Citations - 2339
João Guimarães is an academic researcher from British Hospital. The author has contributed to research in topics: Machado–Joseph disease & Dystonia. The author has an hindex of 19, co-authored 30 publications receiving 2206 citations. Previous affiliations of João Guimarães include Universidade Nova de Lisboa & Nova Southeastern University.
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Journal Article
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Anita L. DeStefano,Isabel Silveira,Isabel Silveira,Paula Coutinho,João Radvany,David M. Dawson,David M. Dawson,Lewis Sudarsky,Lewis Sudarsky,João Guimarães,José Leal Loureiro,Marjan M. Nezarati,Lee I. Corwin,Iscia Lopes-Cendes,Karen Rooke,Roger N. Rosenberg,Patrick MacLeod,Lindsay A. Farrer,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions.
Journal ArticleDOI
Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families
Géraldine Cancel,Alexandra Durr,Olivier Didierjean,Georges Imbert,Katrin Bürk,Agnès Lézin,Samir Belal,Ali Benomar,Myriem Abada-Bendib,Christophe Vial,João Guimarães,Hervé Chneiweiss,Giovanni Stevanin,Gaël Yvert,Nacer Abbas,Frédéric Saudou,Anne-Sophie Lebre,Mohamed Yahyaoui,Fayçal Hentati,Jean-Claude Vernant,Thomas Klockgether,Jean-Louis Mandel,Yves Agid,Alexis Brice +23 more
TL;DR: The frequency of several clinical signs such as myoclonus, dystonia and myokymia increased with the number of CAG repeats whereas the frequency of others was related to disease duration, and instability was confirmed by the high degree of gonadal mosaicism observed in sperm DNA of one patient.
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The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene
Allison Brashear,William B. Dobyns,Patricia de Carvalho Aguiar,Michel Borg,C. J. M. Frijns,Seema Gollamudi,Andrew Green,João Guimarães,Bret C. Haake,Christine Klein,Gurutz Linazasoro,Alexander Münchau,Deborah Raymond,David E. Riley,Rachel Saunders-Pullman,Marina A. J. Tijssen,David Webb,Jacek Zaremba,Susan B. Bressman,Laurie J. Ozelius +19 more
TL;DR: In comparing ATP1A3 mutation positive and negative patients, it is found that tremor at onset of symptoms, a reversed rostrocaudal gradient, and significant limb pain exclude a diagnosis of RDP.
Journal ArticleDOI
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
Bertrand Fontaine,J. Vale-Santos,Karin Jurkat-Rott,J. Reboul,E Plassart,Rime Cs,Alexis Elbaz,R Heine,João Guimarães,Jean Weissenbach +9 more
TL;DR: Performing a genome–wide search using polymorphic dinucleotide repeats, it is demonstrated that the gene encoding the muscle DHP–sensitive calcium channel α1 subunit (CACNL1A3) maps to the same region, sharing a 5 centiMorgan (cM) interval with the HypoPP locus.
Journal ArticleDOI
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Suzanne Lesage,Pablo Ibanez,Ebba Lohmann,Pierre Pollak,François Tison,Myriem Tazir,Anne-Louise Leutenegger,João Guimarães,Anne-Marie Bonnet,Yves Agid,Alexandra Durr,Alexis Brice +11 more
TL;DR: The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini‐Mental State Examination scores.