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Comparison of Speech Tasks for Automatic Classification of Patients with Amyotrophic Lateral Sclerosis and Healthy Subjects

2018 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP), 2018, p.6014-6018

2018

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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.373-377

2020

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Role of expansile duraplasty and neural monitoring in surgery for Anterior Thoracic Spinal Cord Herniation

Interdisciplinary neurosurgery : Advanced techniques and case management, 2020-12, Vol.22, p.100859, Article 100859

2020

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PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

Neurological research and practice, 2022-10, Vol.4 (1), p.49-49, Article 49

2022

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Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Children (Basel), 2021-10, Vol.8 (10), p.909

2021

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Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Journal of Clinical Neurology, 2021, 17(3), , pp.409-418

2021

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Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

Global medical genetics, 2022-03, Vol.9 (1), p.034-041

2022

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A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India

Neurology India, 2015-07, Vol.63 (4), p.548-560

2015

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P-PN036. Loss of function mutation in HINT1 gene presenting with neuromyotonia and hereditary neuropathy

Clinical neurophysiology, 2021-08, Vol.132 (8), p.e116-e117

2021

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Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Journal of clinical neurology (Seoul, Korea), 2021-07, p.409-418

2021

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S53. Pattern of decrement in a large cohort of genetically confirmed congenital myasthenic syndromes from a single quaternary center

Clinical neurophysiology, 2018-05, Vol.129, p.e161-e161

2018

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MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

The Journal of cell biology, 2019-05, Vol.218 (5), p.1686-1705

2019

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Symposium 3: Motor neuron disease SY3.1. Monomelic amyotrophy – Experience from a large cohort

Clinical neurophysiology, 2021-08, Vol.132 (8), p.e43-e43

2021

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Customized and Cost-Effective 3D Printed Mold for Cranioplasty: India's First Single Center Experience

Neurology India, 2021-05, Vol.69 (3), p.611-617

2021

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Is Transoral Surgery Still a Relevant Procedure in Atlantoaxial Instability?

International journal of spine surgery, 2020-10, Vol.14 (5), p.657-664

2020

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Muscular dystrophies: An Indian scenario

Neurology India, 2017-09, Vol.65 (5), p.969-970

2017

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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Journal of clinical neurology (Seoul, Korea), 2017-01, p.91-97

2017

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Muscle disorders P-MU002. Mutation spectrum of congenital muscular dystrophies: A case series from India

Clinical neurophysiology, 2021-08, Vol.132 (8), p.e119-e119

2021

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.281-296

2024

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Phenotype genotype characterization of FKRP mutations in an Indian cohort of limb girdle muscular dystrophy

Journal of the neurological sciences, 2021-10, Vol.429, p.119768, Article 119768

2021

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Mutational spectrum of dysferlinopathies in a large Indian cohort

Journal of the neurological sciences, 2021-10, Vol.429, p.119764, Article 119764

2021

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CARASIL families from India with 3 novel null mutations in the HTRA1 gene

Neurology, 2017-12, Vol.89 (23), p.2392

2017

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T130. Quantitative sudomotor axon reflex testing in anterior horn cell disorders

Clinical neurophysiology, 2018-05, Vol.129, p.e53-e53

2018

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S160. Retinal involvement by optical coherence tomography and its correlation with disease severity in amyotrophic lateral sclerosis

Clinical neurophysiology, 2018-05, Vol.129, p.e201-e201

2018

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Comparison of Speech Tasks for Automatic Classification of Patients with Amyotrophic Lateral Sclerosis and Healthy Subjects

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Role of expansile duraplasty and neural monitoring in surgery for Anterior Thoracic Spinal Cord Herniation

PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India

P-PN036. Loss of function mutation in HINT1 gene presenting with neuromyotonia and hereditary neuropathy

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

S53. Pattern of decrement in a large cohort of genetically confirmed congenital myasthenic syndromes from a single quaternary center

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

Symposium 3: Motor neuron disease SY3.1. Monomelic amyotrophy – Experience from a large cohort

Customized and Cost-Effective 3D Printed Mold for Cranioplasty: India's First Single Center Experience

Is Transoral Surgery Still a Relevant Procedure in Atlantoaxial Instability?

Muscular dystrophies: An Indian scenario

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Muscle disorders P-MU002. Mutation spectrum of congenital muscular dystrophies: A case series from India

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

Phenotype genotype characterization of FKRP mutations in an Indian cohort of limb girdle muscular dystrophy

Mutational spectrum of dysferlinopathies in a large Indian cohort

CARASIL families from India with 3 novel null mutations in the HTRA1 gene

T130. Quantitative sudomotor axon reflex testing in anterior horn cell disorders

S160. Retinal involvement by optical coherence tomography and its correlation with disease severity in amyotrophic lateral sclerosis

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India

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