Mazhor S. Aldosary

Riyadh, 12713, Saudi Arabia

Last Updated: 09/26/2026

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Found 15 publications

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

Journal: International journal of molecular sciences

Published: April 29, 2026

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Journal: Frontiers in psychiatry

Published: May 05, 2024

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Journal: American journal of medical genetics. Part A

Published: August 07, 2023

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Journal: Cells

Published: August 18, 2022

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Journal: Clinical genetics

Published: November 08, 2020

Genetics of ataxia telangiectasia in a highly consanguineous population.

Genetics of ataxia telangiectasia in a highly consanguineous population.

Journal: Annals of human genetics

Published: July 20, 2020

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Journal: JIMD reports

Published: June 24, 2020

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Journal: Brain : a journal of neurology

Published: April 27, 2020

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Journal: Omics : a journal of integrative biology

Published: February 28, 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Journal: Acta neuropathologica

Published: October 25, 2019

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

Journal: Cerebellum (London, England)

Published: December 03, 2017

Molecular and clinical spectra of FBXL4 deficiency.

Molecular and clinical spectra of FBXL4 deficiency.

Journal: Human mutation

Published: April 25, 2017

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Last Updated: 09/26/2026