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Palatal Tremor in POLG-Associated Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 318, doi. 10.1002/mdc3.12195
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- Publication type:
- Article
Giant Axonal Neuropathy.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 7, p. 912, doi. 10.1177/0883073814547721
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- Publication type:
- Article
The “Double Panda” Sign in Leigh Disease.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 7, p. 980, doi. 10.1177/0883073813484968
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- Publication type:
- Article
Macrophagic Myofasciitis: A Report of Two South Indian Infants.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 279, doi. 10.4103/jpn.JPN_141_19
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- Publication type:
- Article
Myelopathy in two brothers with respiratory chain disorder–severe complex 1 deficiency with atlantoaxial dislocation and long spinal arachnoid cyst: A new unreported association.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 45, doi. 10.4103/jpn.JPN_94_19
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- Publication type:
- Article
Lipid storage myopathy with ketonuria: A case of fatty acid oxidation–related myopathy and encephalopathy due to multiple acyl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 362, doi. 10.4103/JPN.JPN_21_18
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- Publication type:
- Article
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 362, doi. 10.4103/jpn.JPN_21_18
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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
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
A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 11, p. 2324, doi. 10.1007/s12031-020-01777-4
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- Publication type:
- Article
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 11, p. 2219, doi. 10.1007/s12031-020-01765-8
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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
Erratum to: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
- Published in:
- 2017
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- Publication type:
- Erratum
Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 967, doi. 10.1007/s11011-017-0005-5
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- Publication type:
- Article
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1195, doi. 10.1007/s11011-016-9854-6
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- Publication type:
- Article
Microsporidial polymyositis in human immunodeficiency virus-infected patients, a rare life-threatening opportunistic infection: Clinical suspicion, diagnosis, and management in resource-limited settings.
- Published in:
- 2015
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- Publication type:
- Journal Article
Microsporidial polymyositis in human immunodeficiency virus−infected patients, a rare life-threatening opportunistic infection: Clinical suspicion, diagnosis, and management in resource-limited settings.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 5, p. 775, doi. 10.1002/mus.24513
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- Publication type:
- Article
Neuroanatomical zones of human traumatic brain injury reveal significant differences in protein profile and protein oxidation: Implications for secondary injury events.
- Published in:
- Journal of Neurochemistry, 2023, v. 167, n. 2, p. 218, doi. 10.1111/jnc.15953
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- Publication type:
- Article
MLIP-Associated Myopathy: A Case Report and Review of the Literature.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 293, doi. 10.3233/JND-221520
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- Publication type:
- Article
Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
- Published in:
- Indian Journal of Pathology & Microbiology, 2022, v. 65, p. 291, doi. 10.4103/ijpm.ijpm_1113_21
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- Publication type:
- Article
Approach to the diagnosis of metabolic myopathies.
- Published in:
- Indian Journal of Pathology & Microbiology, 2022, v. 65, p. 277, doi. 10.4103/ijpm.ijpm_1088_21
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- Publication type:
- Article
Basic requirements to establish a neuromuscular laboratory.
- Published in:
- Indian Journal of Pathology & Microbiology, 2022, v. 65, p. 233, doi. 10.4103/ijpm.ijpm_7_22
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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
Coexistence of central nucleus, cores, and rods: Diagnostic relevance.
- Published in:
- Annals of Indian Academy of Neurology, 2016, v. 19, n. 2, p. 201, doi. 10.4103/0972-2327.176861
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- Publication type:
- Article
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy.
- Published in:
- Annals of Indian Academy of Neurology, 2015, v. 18, n. 4, p. 445, doi. 10.4103/0972-2327.169641
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- Publication type:
- Article
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis.
- Published in:
- Annals of Indian Academy of Neurology, 2013, v. 16, n. 4, p. 712, doi. 10.4103/0972-2327.120453
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- Publication type:
- Article
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association.
- Published in:
- Annals of Indian Academy of Neurology, 2012, v. 15, n. 4, p. 332, doi. 10.4103/0972-2327.104352
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- Publication type:
- Article
Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description.
- Published in:
- 2010
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- Publication type:
- Case Study
Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Infective myositis.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12950
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- Publication type:
- Article
Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder.
- Published in:
- Journal of Neurochemistry, 2018, v. 145, n. 4, p. 323, doi. 10.1111/jnc.14318
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- Publication type:
- Article
Manganese- and 1-methyl-4-phenylpyridinium-induced neurotoxicity display differences in morphological, electrophysiological and genome-wide alterations: implications for idiopathic Parkinson's disease.
- Published in:
- Journal of Neurochemistry, 2017, v. 143, n. 3, p. 334, doi. 10.1111/jnc.14147
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- Publication type:
- Article
Muscle biopsies from human muscle diseases with myopathic pathology reveal common alterations in mitochondrial function.
- Published in:
- Journal of Neurochemistry, 2016, v. 138, n. 1, p. 174, doi. 10.1111/jnc.13626
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- Publication type:
- Article
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 6, p. 2192, doi. 10.1007/s00415-020-10390-9
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- Publication type:
- Article
Inhibition of mitochondrial complex II in neuronal cells triggers unique pathways culminating in autophagy with implications for neurodegeneration.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79339-2
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- Publication type:
- Article
Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 992, doi. 10.1111/ene.14616
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- Publication type:
- Article
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155605
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- Publication type:
- Article
X-Linked Myopathy with Excessive Autophagy; A Case Report.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Young onset Parkinsonism in a patient with familial central core disease.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
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
New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
- Published in:
- Neurology India, 2013, v. 61, n. 6, p. 622, doi. 10.4103/0028-3886.125269
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- Publication type:
- Article
Major histocompatibility complex and inflammatory cell subtype expression in inflammatory myopathies and muscular dystrophies.
- Published in:
- Neurology India, 2013, v. 61, n. 6, p. 614, doi. 10.4103/0028-3886.125264
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- Publication type:
- Article
Mucolipidosis and progressive myoclonus epilepsy: A distinctive phenotype.
- Published in:
- 2013
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- Publication type:
- Case Study
A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade.
- Published in:
- Neurology India, 2013, v. 61, n. 5, p. 481, doi. 10.4103/0028-3886.121913
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- Publication type:
- Article
GNE myopathy in India.
- Published in:
- Neurology India, 2013, v. 61, n. 4, p. 371, doi. 10.4103/0028-3886.117609
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- Publication type:
- Article
Tubular aggregate myopathy: A phenotypic spectrum and morphological study.
- Published in:
- Neurology India, 2010, v. 58, n. 5, p. 747, doi. 10.4103/0028-3886.72166
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- Publication type:
- Article
Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies.
- Published in:
- Neurology India, 2010, v. 58, n. 3, p. 460, doi. 10.4103/0028-3886.65925
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- Publication type:
- Article
Chikungunya Virus Interacts with Heat Shock Cognate 70 Protein to Facilitate Its Entry into Mosquito Cell Line.
- Published in:
- Intervirology, 2018, v. 60, n. 6, p. 247, doi. 10.1159/000489308
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- Publication type:
- Article