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ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
Kuchay, Raja A H; Mir, Yaser Rafiq; Zeng, Xue; Hassan, Asima; Musarrat, Javed; Parwez, Iqbal; Kernstock, Christoph; Traschütz, Andreas; Synofzik, Matthis.
Afiliação
  • Kuchay RAH; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, 185234, India. kuchay_bgsbu@yahoo.com.
  • Mir YR; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, 185234, India.
  • Zeng X; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Hassan A; Department of Ophthalmology, Government Medical College, Srinagar, J&K, India.
  • Musarrat J; School of Biosciences & Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, India.
  • Parwez I; School of Biosciences & Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, India.
  • Kernstock C; University Eye Hospital Tübingen, University of Tübingen, Tübingen, Germany.
  • Traschütz A; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Synofzik M; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Cerebellum ; 18(4): 807-812, 2019 Aug.
Article em En | MEDLINE | ID: mdl-30963395

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Ataxias Espinocerebelares / Espasticidade Muscular / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Ataxias Espinocerebelares / Espasticidade Muscular / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia