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author = "Sablonniere, B"
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Found 3 documents, displaying page 1 of 1

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype

Author(s) : Vuillaume, I , Meynieu, P , Schraen-Maschke, S , Destee, A , Sablonniere, B
Description : Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded (CAG)n repeat on the huntingtin gene. It is characterised by motor, psychiatric and cognitive disturbances. Diagnosis can be confirmed by direct genetic testing, which is highly sensitive and specific...
Repository : Europe PubMed Central
Language(s) : English

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease

Author(s) : Vuillaume, I , Vermersch, P , Destee, A , Petit, H , Sablonniere, B
Description : OBJECTIVES—To evaluate possible influences of CCG and Δ2642 glutamic acid polymorphisms adjacent to the (CAG)n trinucleotide repeat in Huntington's disease gene IT15 on some clinical features (age and symptoms) at onset.
METHODS—84 patients and a control group of 68 unaffected relatives were studied...
Repository : Europe PubMed Central
Language(s) : English

Mis-splicing of Tau exon 10 in myotonic dystrophy type I is reproduced by overexpression of CELF2 but not by MBNL1 silencing

Author(s) : Dhaenens, C.M. , Tran, H. , Frandemiche, M.-L. , Carpentier, C. , Schraen-Maschke, S. , Sistiaga, A. , Goicoechea, M. , Eddarkaoui, S.
Description : Tau is the proteinaceous component of intraneuronal aggregates common to neurodegenerative diseases called Tauopathies, including myotonic dystrophy type I (DM1). In DM1, the presence of microtubule-associated protein Tau aggregates is associated with a mis-splicing of Tau. A toxic gain-of-function ...
Repository : HAL - Hyper Article on Line
Language(s) : English
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Found 3 documents, displaying page 1 of 1