Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.

Kurt, Semiha; Kartal, Ece; Aksoy, Durdane; Cevik, Betul; Eken, Asli Gundogdu; Sahbaz, Irmak; Nazli Basak, A

Kurt, Semiha; Kartal, Ece; Aksoy, Durdane; Cevik, Betul; Eken, Asli Gundogdu; Sahbaz, Irmak; Nazli Basak, A.

Afiliación

Kurt S; Gaziosmanpasa University, Faculty of Medicine, Department of Neurology, Tokat, Turkey. Electronic address: gsemihakurt@hotmail.com.
Kartal E; Bogazici University, Molecular Biology and Genetics Department, Suna and Inan Kiraç Foundation Neurodegeneration Research Laboratory, Istanbul, Turkey.
Aksoy D; Gaziosmanpasa University, Faculty of Medicine, Department of Neurology, Tokat, Turkey.
Cevik B; Gaziosmanpasa University, Faculty of Medicine, Department of Neurology, Tokat, Turkey.
Eken AG; Bogazici University, Molecular Biology and Genetics Department, Suna and Inan Kiraç Foundation Neurodegeneration Research Laboratory, Istanbul, Turkey.
Sahbaz I; Bogazici University, Molecular Biology and Genetics Department, Suna and Inan Kiraç Foundation Neurodegeneration Research Laboratory, Istanbul, Turkey.
Nazli Basak A; Bogazici University, Molecular Biology and Genetics Department, Suna and Inan Kiraç Foundation Neurodegeneration Research Laboratory, Istanbul, Turkey.

J Neurol Sci ; 357(1-2): 290-1, 2015 Oct 15.

Article en En | MEDLINE | ID: mdl-26142023

Asunto(s)

Espasticidad Muscular/complicaciones; Espasticidad Muscular/diagnóstico; Osteocondrodisplasias/congénito; Ataxias Espinocerebelosas/congénito; Femenino; Humanos; Persona de Mediana Edad; Osteocondrodisplasias/complicaciones; Osteocondrodisplasias/diagnóstico; Ataxias Espinocerebelosas/complicaciones; Ataxias Espinocerebelosas/diagnóstico; Turquía

Palabras clave

Ataxia; Autosomal recessive spastic ataxia of Charlevoix Saguenay, ARSACS; Novel mutation; Spasticity; Spondyloepiphyseal dysplasia, SED

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Ataxias Espinocerebelosas / Espasticidad Muscular Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Neurol Sci Año: 2015 Tipo del documento: Article

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