Lista de obras -

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

artículo científico publicado en 2015

Anti-AChR, MuSK, and LRP4 antibodies coexistence: A rare and distinct subtype of myasthenia gravis from Indian subcontinent

artículo científico publicado en 2018

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction Method

artículo científico publicado en 2020

Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study

artículo científico publicado en 2019

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India

scientific article published on 24 July 2018

Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

scientific article published on 16 September 2019

Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India

artículo científico publicado en 2020

Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India

artículo científico publicado en 2019

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome

artículo científico publicado en 2017

GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics

scientific article published on 08 November 2019

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

artículo científico publicado en 2020

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review

scientific article published on 01 July 2018

Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle

scientific article published on 23 October 2019

In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI

artículo científico publicado en 2020

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama disease.

artículo científico publicado en 2017

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis

scientific article published on 28 January 2020

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

artículo científico publicado en 2017

Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.

artículo científico publicado en 2016

Muscular dystrophies: An Indian scenario

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.

artículo científico publicado en 2018

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

artículo científico publicado en 2014

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

artículo científico publicado en 2020

Palliative Care Needs and Care Giver Burden in Neurodegenerative Diseases: A Cross Sectional Study

artículo científico publicado en 2020

Proximal and proximo-distal bimelic amyotrophy: Evidence of cervical flexion induced myelopathy

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

artículo científico publicado en 2016

Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension.

artículo científico publicado en 2017

Whole Exome Analyses of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations

artículo científico publicado en 2020

Lista de obras de

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

Anti-AChR, MuSK, and LRP4 antibodies coexistence: A rare and distinct subtype of myasthenia gravis from Indian subcontinent

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction Method

Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection

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

Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India

Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report

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

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

Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease.

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

Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India

Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome

GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review

Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle

In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama disease.

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis

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

Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.

Muscular dystrophies: An Indian scenario

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

Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

Palliative Care Needs and Care Giver Burden in Neurodegenerative Diseases: A Cross Sectional Study

Proximal and proximo-distal bimelic amyotrophy: Evidence of cervical flexion induced myelopathy

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

Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension.

Whole Exome Analyses of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations