Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, and Neurological diseases and metabolism.
Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
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
Plasma GFAP in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study
Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype
Charcot-Marie-Tooth disease type 2CC due to<i>NEFH</i>variants causes a progressive, non-length-dependent, motor-predominant phenotype
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Genetic and clinical characteristics of<i>NEFL</i>-related Charcot-Marie-Tooth disease