Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Peripheral Neuropathies and Disorders, Genetic Neurodegenerative Diseases, and Neurological diseases and metabolism.
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
Charcot-Marie-Tooth disease type 2CC due to<i>NEFH</i>variants causes a progressive, non-length-dependent, motor-predominant phenotype
Genetic and clinical characteristics of<i>NEFL</i>-related Charcot-Marie-Tooth disease
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
<i>SIGMAR1</i> mutation associated with autosomal recessive Silver-like syndrome
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2