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.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
Peripheral neuropathy in mitochondrial disease
Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
Genetic pain loss disorders
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
A <i>CADM3</i> variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
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
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
Assessing non-Mendelian inheritance in inherited axonopathies
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Novel variants broaden the phenotypic spectrum of <i>PLEKHG5</i>‐associated neuropathies
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia