Maysoon Alsagob

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 22 publications

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Journal: Acta neuropathologica
Published: March 24, 2023

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.

Journal: Frontiers in oncology
Published: September 01, 2022

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

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.

Journal: Genetic testing and molecular biomarkers
Published: December 17, 2021

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation
Published: July 27, 2021

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

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Journal: European journal of neurology
Published: April 24, 2019
Showing 1-12 of 22

Last Updated: 09/26/2026