Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Nerve injury and regeneration, Genetic Neurodegenerative Diseases, and Peripheral Neuropathies and Disorders.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
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
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system
Mutations in <i>MYO9B</i> are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy
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
A recessive Trim2 mutation causes an axonal neuropathy in mice
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
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Schwann cell–derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment
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)
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
<i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the <i>MPZ</i> gene
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2