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List of works by Masoud Shekarabi

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

scientific article published in October 2004

Cellular expression of the K+–Cl− cotransporter KCC3 in the central nervous system of mouse ⬇️

scientific article published on December 11, 2010

Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues ⬇️

scientific article published on February 25, 2013

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

scientific article published on 19 June 2008

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

scientific article

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

Letter to the editors: comment on “Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families” ⬇️

scientific article published on August 17, 2011

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

scientific article published in March 2012

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

scientific article

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics ⬇️

scientific article published on May 28, 2013

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement

scientific article published on 15 February 2019

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

scientific article published on 31 May 2011

[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II].

scientific article

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