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Frontiers in Neurology|July 29, 2020
HTRA1-Related Cerebral Small Vessel Disease: A Review of the LiteratureMasahiro Uemura, Hiroaki Nozaki, Taisuke Kato, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, et al.
Neurogenetics|August 1, 2021
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patientsKiran Polavarapu, Aradhna Mathur, Aditi Joshi, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weaknessDavid Owen, Ana Töpf, Veeramani Preethish-Kumar, et al.
Neuromuscular Disorders : NMD|January 5, 2025
Magnetic resonance imaging in idiopathic inflammatory myopathies: deciphering the pattern of muscle involvementS Sridhar, Saraswati Nashi, Karthik Kulanthaivelu, et al.
Journal of Neurology|January 9, 2026
Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in IndiaMuddasu Suhasini Keerthipriya, Ananthapadmanabha Kotambail, Madhusudhan Deekshitha, et al.
Pediatric Neurology|June 4, 2024
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New CasesDaniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Journal of Neuromuscular Diseases|August 30, 2024
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian CohortDipti Baskar, Nishanth Reddy, Veeramani Preethish-Kumar, et al.
Neurogenetics|December 29, 2022
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from IndiaSaraswati Nashi, Kiran Polavarapu, Mainak Bardhan, et al.
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