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Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
Mahadevan, Radha; Bhoyar, Rahul C; Viswanathan, Natarajan; Rajagopal, Raskin Erusan; Essaki, Bobby; Suroliya, Varun; Chelladurai, Rachel; Sankaralingam, Saravanan; Shanmugam, Ganesan; Vayanakkan, Sriramakrishnan; Shamim, Uzma; Mathur, Aradhana; Jain, Abhinav; Imran, Mohamed; Faruq, Mohammed; Scaria, Vinod; Sivasubbu, Sridhar; Kalyanaraman, Shantaraman.
Affiliation
  • Mahadevan R; Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Bhoyar RC; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Viswanathan N; Institute of Neurology, Madras Medical College, Chennai 600003, Tamil Nadu, India.
  • Rajagopal RE; Multidisciplinary Research Unit, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Essaki B; Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Suroliya V; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Chelladurai R; Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Sankaralingam S; Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Shanmugam G; Galaxy Hospital, Tirunelveli 627003, Tamil Nadu, India.
  • Vayanakkan S; Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  • Shamim U; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Mathur A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Jain A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Imran M; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Faruq M; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Scaria V; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Sivasubbu S; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  • Kalyanaraman S; Multidisciplinary Research Unit, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
Brain Commun ; 3(1): fcaa214, 2021.
Article in En | MEDLINE | ID: mdl-33501421
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Brain Commun Year: 2021 Document type: Article Affiliation country: India Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Brain Commun Year: 2021 Document type: Article Affiliation country: India Country of publication: Reino Unido