Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.

Darvish, Hossein; Bravo, Paloma; Tafakhori, Abbas; Azcona, Luis J; Ranji-Burachaloo, Sakineh; Johari, Amir Hossein; Paisán-Ruiz, Coro

Darvish, Hossein; Bravo, Paloma; Tafakhori, Abbas; Azcona, Luis J; Ranji-Burachaloo, Sakineh; Johari, Amir Hossein; Paisán-Ruiz, Coro.

Afiliación

Darvish H; Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran.
Bravo P; Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.
Tafakhori A; Iranian Center of Neurological Research, Neuroscience institute, Tehran University of Medical Sciences, Tehran, Iran.
Azcona LJ; Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.
Ranji-Burachaloo S; Department of Neurosciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Johari AH; Iranian Center of Neurological Research, Neuroscience institute, Tehran University of Medical Sciences, Tehran, Iran.
Paisán-Ruiz C; Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran.

Mov Disord ; 33(12): 1968-1970, 2018 12.

Article en En | MEDLINE | ID: mdl-30452786

Asunto(s)

Edad de Inicio; Homocigoto; Trastornos Parkinsonianos/genética; Proteínas/genética; Eliminación de Secuencia/genética; Adulto; Femenino; Humanos; Masculino; Linaje

Palabras clave

VPS13C; early-onset parkinsonism; genomic deletion; polyneuropathy

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Eliminación de Secuencia / Edad de Inicio / Trastornos Parkinsonianos / Homocigoto Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Irán

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