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Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Journal of human genetics, 2021-08, Vol.66 (8), p.813-823

2021

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Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations

European journal of neurology, 2021-03, Vol.28 (3), p.992-1003

2021

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Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis

Journal of clinical ultrasound, 2022-02, Vol.50 (2), p.286-291

2022

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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1594-1601

2018

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Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies

European journal of neurology, 2021-04, Vol.28 (4), p.1344-1355

2021

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Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis

Journal of clinical ultrasound, 2022-01, Vol.50 (1), p.131-135

2022

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Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy

Annals of the Indian Academy of Neurology, 2021-03, Vol.24 (2), p.198-203

2021

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Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India

Annals of the Indian Academy of Neurology, 2024-01, Vol.27 (1), p.53-57

2024

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C‐reactive protein levels in patients with amyotrophic lateral sclerosis: A systematic review

Brain and behavior, 2022-03, Vol.12 (3), p.e2532-n/a

2022

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele

Journal of human genetics, 2017-02, Vol.62 (2), p.159-166

2017

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Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform

Journal of neurology, 2022-04, Vol.269 (4), p.2113-2125

2022

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Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

Journal of neuroinflammation, 2020-08, Vol.17 (1), p.1-15, Article 232

2020

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A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein

Journal of molecular neuroscience, 2021-12, Vol.71 (12), p.2468-2473

2021

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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Scientific reports, 2023-09, Vol.13 (1), p.15095-15095, Article 15095

2023

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A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles

Journal of molecular neuroscience, 2021-11, Vol.71 (11), p.2324-2335

2021

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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, 2017, 13(1), , pp.91-97

2017

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An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings

Chronic illness, 2023-06, Vol.19 (2), p.458-471

2023

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Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Journal of human genetics, 2021-08, Vol.66 (8), p.841-841

2021

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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

BMC medical genetics, 2017-06, Vol.18 (1), p.67-67, Article 67

2017

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Mutation spectrum of primary lipid storage myopathies

Annals of the Indian Academy of Neurology, 2022-01, Vol.25 (1), p.106-113

2022

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Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

Global medical genetics, 2024-06, Vol.11 (2), p.167-174

2024

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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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Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations

Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies

Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis

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 patients

Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy

Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India

C‐reactive protein levels in patients with amyotrophic lateral sclerosis: A systematic review

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele

Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform

Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles

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

An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings

Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

Mutation spectrum of primary lipid storage myopathies

Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

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

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