Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Amyotrophic lateral sclerosis, Medicine, Biology, Disease, Genetics, and Exome sequencing.
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study
Towards patient-relevant, trial-ready digital motor outcomes for SPG7: a cross-sectional prospective multi-center study (PROSPAX)
Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Novel variants broaden the phenotypic spectrum of <i>PLEKHG5</i>‐associated neuropathies
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
Reconsidering the causality of TIA1 mutations in ALS
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis