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Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi, Saraswati; Polavarapu, Kiran; Bardhan, Mainak; Anjanappa, Ram Murthy; Preethish-Kumar, Veeramani; Vengalil, Seena; Padmanabha, Hansashree; Geetha, Thenral S; Prathyusha, P V; Ramprasad, Vedam; Joshi, Aditi; Chawla, Tanushree; Unnikrishnan, Gopikirshnan; Sharma, Pooja; Huddar, Akshata; Uppilli, Bharathram; Thomas, Abel; Baskar, Dipti; Mathew, Susi; Menon, Deepak; Arunachal, Gautham; Faruq, Mohammed; Thangaraj, Kumarasamy; Nalini, Atchayaram.
Afiliação
  • Nashi S; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Bardhan M; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Anjanappa RM; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Preethish-Kumar V; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Vengalil S; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Padmanabha H; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Geetha TS; Medgenome, Medgenome Labs, Bommasandra, Bengaluru, India.
  • Prathyusha PV; Department of Biostatistics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
  • Ramprasad V; Medgenome, Medgenome Labs, Bommasandra, Bengaluru, India.
  • Joshi A; CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi, India.
  • Chawla T; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Unnikrishnan G; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Sharma P; CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi, India.
  • Huddar A; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Uppilli B; CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi, India.
  • Thomas A; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Baskar D; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Mathew S; CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi, India.
  • Menon D; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
  • Faruq M; CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi, India.
  • Thangaraj K; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India.
  • Nalini A; Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India. atchayaramnalini@yahoo.co.in.
Neurogenetics ; 24(1): 43-53, 2023 01.
Article em En | MEDLINE | ID: mdl-36580222

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia