Muhammad A. Usmani

Lahore, PB 54550, Pakistan

Last Updated: 09/26/2026

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Found 10 publications

Hijacking Sodium-Glucose Cotransporters: Fructose Drives Neuronal and Microglial Dysfunction.

Hijacking Sodium-Glucose Cotransporters: Fructose Drives Neuronal and Microglial Dysfunction.

Journal: ASN neuro

Published: July 10, 2026

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Journal: American journal of human genetics

Published: March 27, 2026

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

Journal: Genes

Published: April 01, 2024

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Journal: BMC medical genomics

Published: February 04, 2024

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Journal: Clinical genetics

Published: December 29, 2023

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Journal: American journal of human genetics

Published: October 07, 2020

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

Journal: Brain : a journal of neurology

Published: April 01, 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Published: February 25, 2020

Absence of SNCA polymorphisms in Pakistani Parkinsons disease patients.

Absence of SNCA polymorphisms in Pakistani Parkinsons disease patients.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: September 29, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026