List of works - Ahmed Bouhouche

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism

scientific article published on 20 June 2016

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia

scientific article published on 03 December 2020

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

scientific article

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

scientific article

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

scientific article published on March 8, 2007

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

scientific article published in February 2006

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

scientific article

Clinical and genetic data of Huntington disease in Moroccan patients

scientific article

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

scientific article

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population

scientific article published on 19 July 2017

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease

scientific article published on 16 June 2020

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

scientific article published on 15 November 2018

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients ⬇️

scientific article published on October 1, 2003

Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

scientific article

Juvenile Huntington disease: A case study

scientific article published on 27 August 2013

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

scientific article published on 6 December 2013

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease

scientific article

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

scientific article

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

scientific article published on 06 January 2006

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

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

scientific article

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report

scientific article published on 04 March 2020

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

article

List of works by Ahmed Bouhouche

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Clinical and genetic data of Huntington disease in Moroccan patients

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients ⬇️

Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

Juvenile Huntington disease: A case study

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations