List of works - Majida Charif

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

scientific article published on 02 November 2020

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

scientific article published on 27 July 2015

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

scientific article published on 19 October 2015

A rod-cone dystrophy is systematically associated to the RTN4IP1 recessive optic atrophy

scientific article published on 07 December 2020

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

scientific article published on 24 January 2018

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

scientific article

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

scientific article

Association of the MTHFR A1298C variant with unexplained severe male infertility

scientific article (publication date: 2012)

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

scholarly article by Céline Bris et al published 2018 in Frontiers in Genetics

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

scientific article published on 01 January 2020

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

First characterization of LHON pedigrees in North Africa

scientific article published on 02 January 2020

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

scientific article published on July 2013

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

scientific article published on 27 July 2019

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

scientific article published on 21 July 2017

Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.

scientific article

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

scientific article

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

scientific article published on 08 December 2020

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

scientific article

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

scientific article published on 30 December 2011

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

scientific article

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

scientific article

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

scientific article published on 21 April 2020

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

scientific article published on 20 May 2020

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

scientific article published on 03 November 2018

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

scientific article

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

scientific article

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

scientific article

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss

scientific article published on 15 July 2010

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific article

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

scientific article

Reply: The expanding neurological phenotype of DNM1L-related disorders

scientific article published on 01 April 2018

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

scientific article published on 03 December 2019

Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1

scientific article published in 2022

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

scientific article

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

scientific article

List of works by Majida Charif

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

A rod-cone dystrophy is systematically associated to the RTN4IP1 recessive optic atrophy

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

Association of the MTHFR A1298C variant with unexplained severe male infertility

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

First characterization of LHON pedigrees in North Africa

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Reply: The expanding neurological phenotype of DNM1L-related disorders

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss