Prediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie
نویسندگان
چکیده
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, Laszlo Baliko, Melegh Bela, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stevanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard
منابع مشابه
Prediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie Tezenas du Montcel , 1 , 2 Alexandra Durr ,
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Su...
متن کاملPrediction of the age at onset in spinocerebellar ataxia type 1 , 2 , 3 and 6 Sophie Tezenas du Montcel
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Su...
متن کاملPrediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
BACKGROUND The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset. METHODS We combined data from two major Euro...
متن کاملO-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients
Background: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Materials and Methods: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA pur...
متن کاملMitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.
BACKGROUND A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2). OBJECTIVE To assess the association of the 10398G polymorphism wi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2014