Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Hereditary Neurological Disorders, Peripheral Neuropathies and Disorders, Pain Mechanisms and Treatments, and Botulinum Toxin and Related Neurological Disorders.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
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
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
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
Assessing non-Mendelian inheritance in inherited axonopathies
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Variation in <i>SIPA1L2</i> is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
The <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth <scp>H</scp>ealth <scp>I</scp>ndex: Evaluation of a Patient‐Reported Outcome
Natural history of Charcot‐Marie‐Tooth disease during childhood
Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the <i>MPZ</i> gene
Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia