Mehrdad A. Estiar

THE GENETIC LANDSCAPE OF HEREDITARY SPASTIC PARAPLEGIA IN CANADA

This study characterizes the genetic and clinical features of hereditary spastic paraplegia (HSP) in a Canadian cohort, identifying common genetic causes and phenotypic variability.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

Loss-of-function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.

Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

Fine mapping of the HLA locus in Parkinson's disease in Europeans

This study fine maps the association between HLA genes and Parkinson's disease in Europeans, identifying specific amino acid variants in HLA-DRB1 that are protective against PD.

Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

Evidence for non-Mendelian inheritance in spastic paraplegia 7

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.