Kosha Srivastava

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Publications (17)

• A rare case of myopathy with fatigability due to PYROXD1 variation
  Journal of Neuromuscular Diseases 2025 2 citations DOI: 10.1177/22143602241301635
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• Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy
  Neurology India 2025 0 citations DOI: 10.4103/neurol-india.neurol-india-d-24-00093
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• Titinopathies: Phenotype – genotype heterogeneity in an Indian cohort
  Journal of Neuromuscular Diseases 2025 0 citations DOI: 10.1177/22143602241313119
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• MICU1 related myopathy – a rare report from India
  Journal of Neuromuscular Diseases 2024 1 citation DOI: 10.1177/22143602241288400
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• 253P International Centre for Genomic Medicine in Neuromuscular Diseases: analysis and characterization of the muscular dystrophy cohort from India
  Neuromuscular Disorders 2024 0 citations DOI: 10.1016/j.nmd.2024.07.470
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• Cognitive and behavioural profile of patients with Amyotrophic Lateral Sclerosis spectrum in the Indian Context
  Dementia and Geriatric Cognitive Disorders 2024 1 citation DOI: 10.1159/000540018
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• Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
  Neurology Genetics 2024 14 citations DOI: 10.1212/NXG.0000000000200122
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• Dissociative Identity Disorder and Anxiety
  Dissociative Identity Disorder 2024 0 citations DOI: 10.1007/978-3-031-39854-4_12
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• Neuromuscular disease genetics in underrepresented populations: increasing data diversity
  Brain 2023 31 citations DOI: 10.1093/brain/awad254
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• MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
  Journal of Neuromuscular Diseases 2023 6 citations DOI: 10.3233/jnd-230017
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