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List of works by Bouchra Ouled Amar Bencheikh

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain

scientific article published on 12 July 2014

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

scientific article published on 17 April 2018

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

scientific article

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

scientific article published on 22 July 2015

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

scientific article published on 27 February 2018

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

scientific article published on 18 November 2019

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

scientific article published on 07 August 2015

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

scientific article published on 21 March 2018

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on May 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

scholarly article by Bouchra Ouled Amar Bencheikh et al published 2 July 2018 in Neurobiology of Aging

Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae

scientific article published on 11 November 2019

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

scientific article published on 08 April 2020

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