Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.

Ros-Arlanzón, Pablo; Serrano-Serrano, Blanca; Aledo-Sala, Carlos; Guevara-Dalrymple, Natasha; Martí-Martínez, Silvia

Ros-Arlanzón, Pablo; Serrano-Serrano, Blanca; Aledo-Sala, Carlos; Guevara-Dalrymple, Natasha; Martí-Martínez, Silvia.

Afiliación

Ros-Arlanzón P; Department of Neurology, Dr. Balmis General University Hospital, Alicante, Spain.
Serrano-Serrano B; Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain.
Aledo-Sala C; Department of Neurology, Albacete University Hospital Complex, Albacete, Spain.
Guevara-Dalrymple N; Department of Neurology, Dr. Balmis General University Hospital, Alicante, Spain.
Martí-Martínez S; Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain.

Mov Disord Clin Pract ; 2024 May 31.

Article en En | MEDLINE | ID: mdl-38817201

Palabras clave

AOA2; SETX gene; ataxia; oculomotor apraxia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mov Disord Clin Pract Año: 2024 Tipo del documento: Article País de afiliación: España

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