A5028068989- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Developmental Biology and Gene Regulation
- Sexual Differentiation and Disorders
- Infectious Encephalopathies and Encephalitis
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Tumors and Oncological Cases
- Fetal and Pediatric Neurological Disorders
- Cellular transport and secretion
- PI3K/AKT/mTOR signaling in cancer
- Hippo pathway signaling and YAP/TAZ
- Ubiquitin and proteasome pathways
- Tracheal and airway disorders
- Microtubule and mitosis dynamics
- Prenatal Screening and Diagnostics
- Cardiomyopathy and Myosin Studies
- Tuberous Sclerosis Complex Research
- Congenital Ear and Nasal Anomalies
- Vascular Tumors and Angiosarcomas
University of Ottawa
2024-2025
Children's Hospital of Eastern Ontario
2024
Dokuz Eylül University
2016-2020
Medical Genetics Center
2017
Background: Why some individuals experience severe neuropathy following infection is unknown. Nucleocytoplasmic trafficking (NCT) an essential process in nucleated cells, and its disruption has been implicated many neurodegenerative conditions including amyotrophic lateral sclerosis (ALS) frontotemporal dementia.
Background/Objectives: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the DMD gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is most common inherited dystrophy. Methods: We screened datasets 403 male, genetically confirmed dystrophinopathy patients and identified 13 that have not been described literature thus far. For all we provide additional data on clinical course, genotype–phenotype correlations as well histological...
Aniridia is a congenital, panocular abnormality which characterized by partial or complete absence of iris and various degrees hypoplasia. Mutations in the PAX6 gene are found ~90% cases with aniridia. The human located at chromosome 11p13 encodes transcriptional regulator that has crucial roles development eyes, central nervous system pancreatic islets. present study performed clinical genomic analysis two families containing multiple All exons probands were sequenced using Sanger...
Abstract Background Why some individuals experience severe neuropathy following infection is unknown. Nucleocytoplasmic trafficking (NCT) an essential process in nucleated cells, and its disruption has been implicated many neurodegenerative conditions including amyotrophic lateral sclerosis (ALS) frontotemporal dementia. Methods We performed genomic clinical studies 24 from 12 families with acute onset axonal neuropathy. Genetic variants were characterized by thermal stability enzymatic...
Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which caused by mutations in the CHD7 gene. This study aimed to disclose mild end of phenotypic spectrum syndrome, has highly variable expressivity. Materials methods: Twenty-one patients who had at least one major symptoms (coloboma, choanal atresia, characteristic ear anomalies, semicircular canal hypoplasia, cranial nerve anomalies) were included study. All...
Background and aim: The number of reports on the role tubulin gene mutations (TUBA1A, TUBB2B, TUBB3) in etiology malformations cortical development has peaked recent years. We aimed to determine defects a patient population with simple complex development, investigate relationship between disease phenotype.Materials methods: evaluated 47 patients or as determined by radiological examination, for demographic features, clinical findings TUBA1A, TUBB3 genes. Results: According magnetic...