Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Biology, Induced pluripotent stem cell, Genetics, Medicine, Computational biology, and Neuroscience.
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling
A reference human induced pluripotent stem cell line for large-scale collaborative studies
Genetic pain loss disorders
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
A reference induced pluripotent stem cell line for large-scale collaborative studies
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy
Small heat shock proteins: multifaceted proteins with important implications for life
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Report of a novel ATP7A mutation causing distal motor neuropathy
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
Clinical gene panel in UNIFE patients orphans of genetic diagnosis
Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia