SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.
Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Maria Thereza Drumond
MT
Gama
Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.|Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Gabrielle
G
Houle
Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Anne
A
Noreau
Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Alexandre
A
Dionne-Laporte
Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Patrick A
PA
Dion
Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Guy A
GA
Rouleau
Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Orlando G P
OG
Barsottini
Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
José Luiz
JL
Pedroso
D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000503:physiopathology*; D001938:Brazil; D003598:Cytoskeletal Proteins; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D055815:Young Adult
D003598:Cytoskeletal Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C415465:SYNE1 protein, human