A5010262781- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Bipolar Disorder and Treatment
- Mitochondrial Function and Pathology
- Nuclear Structure and Function
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Genomics and Rare Diseases
- Calpain Protease Function and Regulation
- Inflammatory Myopathies and Dermatomyositis
- Adipose Tissue and Metabolism
- Amyotrophic Lateral Sclerosis Research
- Fungal and yeast genetics research
- Extracellular vesicles in disease
- Peptidase Inhibition and Analysis
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Cellular transport and secretion
- Receptor Mechanisms and Signaling
- Esophageal and GI Pathology
- Neurotransmitter Receptor Influence on Behavior
- Signaling Pathways in Disease
SciGenom Labs (India)
2021-2025
National Institute of Mental Health and Neurosciences
2007-2024
University of Ottawa
2021
Ottawa Hospital
2021
Children's Hospital of Eastern Ontario
2021
Jawaharlal Nehru Centre for Advanced Scientific Research
2014-2019
Introduction: Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably caused by Titin ( TTN) gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe phenotype-genotype heterogeneity patients with myopathy/muscular dystrophy associated TTN variants an Indian cohort. Methods: A retrospective descriptive study 12 diagnosed primary muscle disease evaluated between 2016 2023...
Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data Indian subcontinent lacking.
Altered serotonergic function is implicated in the aetiology and pathogenesis of a host psychiatric disorders, structural variations/polymorphisms genes encoding serotonin transporter various receptor subtypes are attractive candidates to investigate biological component underlying these disorders. Specific phenotypic subtypes, that perhaps represent homogeneous forms disorder, may increase power detect complex diseases.We investigated regulatory functional polymorphic DNA markers candidate...
Huntington's disease (HD), an autosomal dominant neurodegenerative syndrome, has a world-wide distribution. An estimated 2.5-10/100,000 people of European ancestry are affected with HD, while the Asian populations have lower prevalence (0.6-3.8/100,000). The epidemiology HD is not well described in India, and distribution pathogenic CAG expansion, associated haplotype, this population needs to be better understood. This study demonstrates repeats, at HTT locus, comparable both normal...
Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable commonly available medications such as acetylcholinesterase inhibitors β2 adrenergic receptor agonists. In this study, we identified genetically characterized largest cohort CMS patients from India to date. Genetic testing clinically suspected evaluated in South Indian hospital during period 2014-19 was carried out standard...
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal with autosomal recessive inheritance. It has distinctive features of quadriceps sparing preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10–20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in large cohort GNEM from India. Materials methods: Retrospective observational on quaternary neurology referral hospital southern...
Abstract Objectives Bipolar disorder (BD) is a neuropsychiatric with complex pattern of inheritance. Although many genetic studies have been conducted on BD, its correlates remain uncertain. This study was aimed at identifying the underpinnings in an Indian family, which has under comprehensive clinical evaluation and follow‐up for over 12 years. Methods We analysed four‐generation family several members diagnosed BD employing combination linkage exome analysis . Results obtained suggestive...
Calpainopathy is caused by mutations in the CAPN3 . There only one clinical and genetic study of from India none South India. A total 72 (male[M]:female [F] = 34:38) genetically confirmed probands independent families are included this study. Consanguinity was present 54.2%. The mean age onset duration symptoms 13.5 ± 6.4 6.3 4.7 years, respectively. Positive family history occurred 23.3%. predominant initial were proximal lower limb weakness (52.1%) toe walking (20.5%). At presentation,...
Congenital myopathies are a group of heterogenous inherited muscle diseases. With advances in genetics, newer genes with novel features being described. Pyridine nucleotide-disulfide oxidoreductase domain 1 (PYROXD1) related myopathy is an ultrarare congenital myopathy. Only few cases have been reported worldwide till now. We report the first interesting case PYROXD1 from India. This retrospective study done quaternary neurology referral centre southern All clinical, laboratory and...
<h3>Background</h3> Huntington’s disease (HD), an autosomal dominant neurodegenerative syndrome, has a world-wide distribution. An estimated 2.5–10/100,000 people of European ancestry are affected with HD, while the Asian populations have lower prevalence (0.6–3.8/100,000). The epidemiology HD is not well described in India, and distribution pathogenic CAG expansion, associated haplotype, this population needs to be better understood. <h3>Aim</h3> To analyse repeats, at HTT locus halpotype...
The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding α, β, γ, and δ proteins which stabilizes sarcolemma of muscle cells. clinical phenotype is characterized progressive proximal weakness with childhood onset. Muscle biopsy findings diagnostic confirming dystrophic changes deficiency one or more sarcoglycan proteins. In this study, we summarized 1,046 LGMD patients for a precise diagnosis was identified using...
The objective of this study is to describe the clinical, biochemical, radiological, and genetic profile patients presenting with progressive spastic paraparesis due homocysteine remethylation pathway defect.This was a retrospective conducted by reviewing medical records serum levels >50 μmol/L between January 2015 2019 at our hospital. We included paraparesis, having low or normal blood methionine suggesting disorders remethylation. Demographic details, clinical manifestations, biochemical...
Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the carrier frequency of different variants in DMD gene for first time Indian cohort.Ninety-one mothers genetically confirmed probands are included this study. Pathogenic were detected by multiplex ligation-dependent probe amplification (MLPA) or next-generation sequencing (NGS). Maternal blood samples evaluated either MLPA Sanger...
Background and purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported English literature. Methods A detailed evaluation was conducted of clinical, muscle magnetic resonance imaging (MRI), genetic findings two unrelated adults with MYPN-related cap Genetic analysis performed using whole-exome sequencing. MRI on a 1.5-T device patient 1. Results Two born consanguineous parents, 28-year-old male...
Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H characterized early onset and slowly progressing motor sensory deficits in the distal extremities, along with foot deformities. We describe a patient who presented rapidly flaccid quadriparesis during postpartum period, which improved significantly steroid therapy. Magnetic resonance imaging ultrasonography demonstrated considerable nerve thickening increased...