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Lista de obras de Bouchra Ouled Amar Bencheikh

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 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

artículo científico publicado en 2020

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