Shahryar A. Alavi

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Deciphering the molecular crosstalk between type 2 diabetes and pancreatic cancer through cross-disease co-expression network analysis.

Deciphering the molecular crosstalk between type 2 diabetes and pancreatic cancer through cross-disease co-expression network analysis.

Journal: Biochemistry and biophysics reports

Published: December 31, 2025

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.

Journal: Orphanet journal of rare diseases

Published: December 24, 2025

A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?

A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: November 04, 2025

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Journal: Molecular medicine (Cambridge, Mass.)

Published: July 22, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

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

Published: July 04, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Journal: Nature communications

Published: January 24, 2025

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

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Journal: Nature genetics

Published: November 23, 2024

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Journal: Clinical genetics

Published: November 02, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Showing 1-12 of 32

Last Updated: 09/26/2026