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List of works by Veeramani Preethish-Kumar

A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.

scientific article

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

scientific article published on July 2015

Beevor's sign: a potential clinical marker for GNE myopathy.

scientific article published in August 2016

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

scientific article published on 24 July 2018

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

scientific article published on 12 May 2015

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

scientific article published on 01 April 2019

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

scientific article published on 02 July 2020

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

scientific article

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

scientific article published on 06 March 2019

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

scientific article published on 10 November 2016

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

scientific article published on 5 September 2016

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.

scientific article published on 25 January 2018

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

scientific article published on 21 November 2020

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

scientific article published on 6 April 2016

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

scientific article published on 30 August 2016

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

scientific article

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

scientific article published on 30 October 2020

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