Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, and Neurogenetic and Muscular Disorders Research.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
Mutations in <i>MYO9B</i> are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
Characterizing the molecular phenotype of an Atp7a<sup>T985I</sup>conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing
<scp><i>MORC</i></scp><i>2</i> mutations cause axonal <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth disease with pyramidal signs
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor