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Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
Norata, Davide; Alonge, Paolo; Grillo, Lucia; Calì, Francesco; Sturnio, Maurizio; Lupica, Antonino; Costa, Vanessa; Brighina, Filippo; Di Stefano, Vincenzo.
Afiliação
  • Norata D; Department of Medicine and Surgery, Unit of Neurology, Neurophysiology, Neurobiology and Psychiatry, Università Campus Bio-Medico Di Roma, Via Alvaro del Portillo, 21 - 00128, Rome, Italy. dav.norata@gmail.com.
  • Alonge P; Neurological Clinic and Stroke Unit, Department of Experimental and Clinical Medicine (DiMSC), Marche Polytechnic University, Via Conca 71, 60020, Ancona, Italy. dav.norata@gmail.com.
  • Grillo L; Unit of Neurophysiopathology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90129, Palermo, Italy.
  • Calì F; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Sturnio M; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Lupica A; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Costa V; Unit of Neurophysiopathology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90129, Palermo, Italy.
  • Brighina F; Unit of Neurophysiopathology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90129, Palermo, Italy.
  • Di Stefano V; Unit of Neurophysiopathology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90129, Palermo, Italy.
Neurol Sci ; 45(3): 1283-1286, 2024 Mar.
Article em En | MEDLINE | ID: mdl-37853290

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article