Mehrdad A. Estiar
Montreal, QC, Canada
Last Updated: 09/26/2026
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Found 64 publications
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 24, 2025
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
Journal: BMC medicine
Published: July 29, 2025
Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.
Journal: Movement disorders clinical practice
Published: November 05, 2024
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
Journal: Brain : a journal of neurology
Published: August 27, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Journal: European journal of neurology
Published: August 26, 2024
Lack of epistatic interaction of SNCA with APOE in synucleinopathies.
Journal: Brain communications
Published: August 22, 2024
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Journal: American journal of human genetics
Published: June 07, 2024
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Journal: Human molecular genetics
Published: April 01, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 30, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Journal: American journal of human genetics
Published: February 22, 2022
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Journal: Nature communications
Published: February 16, 2022
Genetic, structural and clinical analysis of spastic paraplegia 4.
Journal: Parkinsonism & related disorders
Published: January 25, 2022
Last Updated: 09/26/2026