Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector
2016 StandoutScience
Genes, molecules and patients—Emerging topics to guide clinical pain research
2013
Benchmarking the stability of human detergent-solubilised voltage-gated sodium channels for structural studies using eel as a reference
2015 StandoutNobel
Human genetic disorders of sphingolipid biosynthesis
2014
Therapeutic potential of NaV1.1 activators
2014
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Sphingolipids and their metabolism in physiology and disease
2017 Standout
Converging cellular themes for the hereditary spastic paraplegias
2018
Mitochondrial diseases
2012
Regulation of endoplasmic reticulum turnover by selective autophagy
2015 Nature
Differential Roles of M1 and M2 Microglia in Neurodegenerative Diseases
2015 Standout
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Incidence, prevalence, and predictors of chemotherapy-induced peripheral neuropathy: A systematic review and meta-analysis
2014 Standout
Increased Plasma Levels of Select Deoxy-ceramide and Ceramide Species are Associated with Increased Odds of Diabetic Neuropathy in Type 1 Diabetes: A Pilot Study
2016
Dynamics and functions of lipid droplets
2018 Standout
MicroRNA-137/181c Regulates Serine Palmitoyltransferase and In Turn Amyloid β, Novel Targets in Sporadic Alzheimer's Disease
2011
The epidemiology of Parkinson's disease: risk factors and prevention
2016 Standout
The yeast sphingolipid signaling landscape
2013
Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus
2015 StandoutNatureNobel
Genetics of Parkinson's Disease
2012
HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship
2015
Genetic aberrations in macroautophagy genes leading to diseases
2018
Sodium channelSCN1Aand epilepsy: Mutations and mechanisms
2010
Genetic basis of pain variability: recent advances
2011
Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
2011
Topological and Functional Characterization of the ssSPTs, Small Activating Subunits of Serine Palmitoyltransferase
2013
Neuroblast differentiation during development and in neuroblastoma requires KIF1Bβ-mediated transport of TRKA
2017
The Three-Step Theory (3ST): A New Theory of Suicide Rooted in the “Ideation-to-Action” Framework
2015 Standout
A Fluorogenic Aryl Fluorosulfate for Intraorganellar Transthyretin Imaging in Living Cells and in Caenorhabditis elegans
2015 StandoutNobel
Full length RTN3 regulates turnover of tubular endoplasmic reticulum via selective autophagy
2017
Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course
2011
The hitchhiker’s guide to the voltage-gated sodium channel galaxy
2015
EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance
2019 StandoutNobel
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome
2014
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Nav1.1 Modulation by a Novel Triazole Compound Attenuates Epileptic Seizures in Rodents
2014
Plasma 1-deoxysphingolipids are predictive biomarkers for type 2 diabetes mellitus
2015
Extracellular microRNAs in human circulation are associated with miRISC complexes that are accessible to anti-AGO2 antibody and can bind target mimic oligonucleotides
2020 StandoutNobel
Works of Jonathan Baets being referenced
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
2016
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
2009
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
2009
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
2010
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
2009
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
2010
TheSCN1Avariant database: a novel research and diagnostic tool
2009
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
2009
Mechanisms of disease in hereditary sensory and autonomic neuropathies
2012
Mutations in SACS cause atypical and late-onset forms of ARSACS
2010