Author
McMaster UniversityORCID 0000-0003-0312-3746Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Sylvine Niyoyita, Mehrdad A. Estiar, Han Yu…·Ziv Gan‐Or
This study characterizes the genetic and clinical features of hereditary spastic paraplegia (HSP) in a Canadian cohort, identifying common genetic causes and phenotypic variability.
Andrew I. Mikhail, Sean Y. Ng, Magda A. Lesinski…·Vladimir Ljubicic
This study shows that CARM1 activity increases in neuromuscular junction instability and muscle atrophy in mice and humans, correlating with NMJ dysfunction and muscle health decline.
Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang
Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.
Rui Zhu, Lang Liu, Mehrdad A. Estiar…·Ziv Gan‐Or
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.
Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor
The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.
Mehrdad A. Estiar, Eric Yu, Ikhlass Haj Salem…·Ziv Gan‐Or
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.