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PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings.
- Published in:
- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00213-9
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- Publication type:
- Article
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
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- Publication type:
- Article
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 221, doi. 10.3233/JND-230042
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- Publication type:
- Article
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017
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- Publication type:
- Article
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 615, doi. 10.3233/JND-221618
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- Publication type:
- Article
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 227, doi. 10.3233/JND-221621
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- Publication type:
- Article
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 411, doi. 10.3233/JND-210785
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- Publication type:
- Article
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728
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- Publication type:
- Article
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 347, doi. 10.3233/JND-210716
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- Publication type:
- Article
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
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- Publication type:
- Article
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 525, doi. 10.3233/JND-210658
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- Publication type:
- Article
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7
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- Publication type:
- Article
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
- Published in:
- Neurogenetics, 2023, v. 24, n. 1, p. 43, doi. 10.1007/s10048-022-00707-3
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- Publication type:
- Article
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
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- Neurogenetics, 2022, v. 23, n. 3, p. 187, doi. 10.1007/s10048-022-00690-9
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- Publication type:
- Article
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.
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- Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
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- Article
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
- Published in:
- Neurology India, 2024, v. 72, n. 1, p. 83, doi. 10.4103/neuroindia.NI_1432_20
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- Publication type:
- Article
Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review.
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- 2018
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- Publication type:
- journal article
Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.
- Published in:
- 2018
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- Publication type:
- journal article
Muscular dystrophies: An Indian scenario.
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- 2017
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- Publication type:
- journal article
A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India.
- Published in:
- Neurology India, 2015, v. 63, n. 4, p. 548, doi. 10.4103/0028-3886.162048
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- Publication type:
- Article
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 281, doi. 10.1093/brain/awad315
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- Publication type:
- Article
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0431-6
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- Publication type:
- Article
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
- Published in:
- 2023
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- Publication type:
- Correction Notice
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 5, p. 2602, doi. 10.1007/s12035-023-03219-9
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- Publication type:
- Article
HTRA1 -Related Cerebral Small Vessel Disease: A Review of the Literature.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00545
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- Publication type:
- Article
Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.
- Published in:
- Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk
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- Publication type:
- Article
Identification of Ganglion cyst causing suprascapular nerve neuropathy by high resolution neurosonography.
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- Neurology Asia, 2016, v. 21, n. 4, p. 381
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- Publication type:
- Article
An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings.
- Published in:
- Chronic Illness, 2023, v. 19, n. 2, p. 458, doi. 10.1177/17423953221097076
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- Publication type:
- Article
Anti-N-methyl-D-aspartate-receptor encephalitis as a harbinger of pediatric HIV infection.
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- Journal of Pediatric Neurosciences, 2021, v. 16, n. 4, p. 327, doi. 10.4103/jpn.JPN_225_20
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- Publication type:
- Article
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3546, doi. 10.1007/s00415-024-12319-y
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- Publication type:
- Article
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1331, doi. 10.1007/s00415-023-12070-w
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- Publication type:
- Article
Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 4, p. 2113, doi. 10.1007/s00415-021-10789-y
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- Publication type:
- Article
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort.
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- Journal of Neurology, 2019, v. 266, n. 9, p. 2177, doi. 10.1007/s00415-019-09380-3
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- Publication type:
- Article
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
- Published in:
- Global Medical Genetics, 2022, v. 9, n. 1, p. 34, doi. 10.1055/s-0041-1736567
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- Publication type:
- Article
Novel <i>TCAP</i> Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102763
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- Publication type:
- Article
Schooling of Children with Duchenne Muscular Dystrophy: Experiences from a Tertiary Care Center in India.
- Published in:
- School Social Work Journal (Illinois Association of School Social Workers), 2021, v. 45, n. 2, p. 21
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- Publication type:
- Article
Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.
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- Journal of Clinical Ultrasound, 2022, v. 50, n. 2, p. 286, doi. 10.1002/jcu.23084
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- Publication type:
- Article
Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.
- Published in:
- Journal of Clinical Ultrasound, 2022, v. 50, n. 1, p. 131, doi. 10.1002/jcu.23069
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- Publication type:
- Article
Palliative care in duchenne muscular dystrophy: A study on parents' understanding.
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- Indian Journal of Palliative Care, 2021, v. 27, n. 1, p. 146, doi. 10.4103/IJPC.IJPC_259_20
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- Publication type:
- Article
Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis.
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- Indian Journal of Palliative Care, 2020, v. 26, n. 1, p. 61, doi. 10.4103/IJPC.IJPC_123_19
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- Publication type:
- Article
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
- Published in:
- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100909
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- Publication type:
- Article
Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
- Published in:
- Internal Medicine Journal, 2024, v. 54, n. 3, p. 455, doi. 10.1111/imj.16205
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- Publication type:
- Article
Mutation Spectrum of Primary Lipid Storage Myopathies.
- Published in:
- Annals of Indian Academy of Neurology, 2022, v. 25, n. 1, p. 106, doi. 10.4103/aian.aian_333_21
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- Publication type:
- Article
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20
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- Publication type:
- Article
Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 3, p. 313, doi. 10.4103/aian.AIAN_304_19
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- Publication type:
- Article
Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2020, v. 102, n. 3, p. 547, doi. 10.4269/ajtmh.19-0390
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- Publication type:
- Article
Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2019, v. 100, n. 4, p. 921, doi. 10.4269/ajtmh.17-0945
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- Publication type:
- Article
Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging–Based Report.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2018, v. 98, n. 3, p. 800, doi. 10.4269/ajtmh.17-0828
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- Publication type:
- Article
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 4, p. 399, doi. 10.1111/ane.13562
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- Publication type:
- Article
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 12, p. 2468, doi. 10.1007/s12031-021-01856-0
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- Publication type:
- Article