Kosha Srivastava

Bengaluru, KA, India

Last Updated: 09/26/2026

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Found 8 publications

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

Journal: Journal of neuromuscular diseases

Published: March 04, 2025

A rare case of myopathy with fatigability due to PYROXD1 variation.

A rare case of myopathy with fatigability due to PYROXD1 variation.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

MICU1 related myopathy - a rare report from India.

MICU1 related myopathy - a rare report from India.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context.

Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context.

Journal: Dementia and geriatric cognitive disorders

Published: January 16, 2024

Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy.

Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy.

Journal: Neurology India

Published: December 20, 2023

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.

Journal: Neurology. Genetics

Published: July 27, 2023

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Journal: Brain : a journal of neurology

Published: May 22, 2023

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).

Journal: Journal of neuromuscular diseases

Published: May 08, 2023

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Last Updated: 09/26/2026