Citation Impact
Citing Papers
Neurotoxic protein expression reveals connections between the circadian clock and mating behavior in Drosophila
2006 StandoutNobel
Impairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice
2005 StandoutNobel
The microbiota regulates type 2 immunity through RORγt + T cells
2015 StandoutScienceNobel
Gating the Selectivity Filter in ClC Chloride Channels
2003 StandoutScienceNobel
ER Tubules Mark Sites of Mitochondrial Division
2011 StandoutScience
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
MTMR9 Increases MTMR6 Enzyme Activity, Stability, and Role in Apoptosis
2008
Oligodendroglia metabolically support axons and contribute to neurodegeneration
2012 Nature
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
2017
Molecular Architecture and Function of the SEA Complex, a Modulator of the TORC1 Pathway
2014
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
2004
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene
2000
Diagnosis of amyotrophic lateral sclerosis
1998
Interleukin-17 family and IL-17 receptors
2003
The Orphan Nuclear Receptor RORγt Directs the Differentiation Program of Proinflammatory IL-17+ T Helper Cells
2006 Standout
Interleukin-17 Family Members and Inflammation
2004 Standout
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Unravelling the pathogenesis of inflammatory bowel disease
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Cell Signaling by Receptor Tyrosine Kinases
2010 Standout
Mammalian phosphoinositide kinases and phosphatases
2009 StandoutNobel
Architecture of the human GATOR1 and GATOR1–Rag GTPases complexes
2018 Nature
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
2010
Emerging pathways for hereditary axonopathies
2005
Dynamic regulation of molecular chaperone gene expression in polyglutamine disease
2005
Hallmarks of aging: An expanding universe
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Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
Recognition of microorganisms and activation of the immune response
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Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2
2007
The Expanding Social Network of Ionotropic Glutamate Receptors: TARPs and Other Transmembrane Auxiliary Subunits
2011
A human natural killer cell subset provides an innate source of IL-22 for mucosal immunity
2008 StandoutNature
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2
2006
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis
2016
IL-21 initiates an alternative pathway to induce proinflammatory TH17 cells
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Identification and characterisation of GPR100 as a novel human G‐protein‐coupled bradykinin receptor
2003
mTOR at the nexus of nutrition, growth, ageing and disease
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Protein tyrosine phosphatases: from genes, to function, to disease
2006
Mitochondria: In Sickness and in Health
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Decoding ALS: from genes to mechanism
2016 StandoutNature
Mitochondrial dynamics in cell death and neurodegeneration
2010
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients
2016
Mitochondrial fragmentation in neurodegeneration
2008
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility
2017
Autophagy in the Pathogenesis of Disease
2008 Standout
Misregulated RNA processing in amyotrophic lateral sclerosis
2012
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse
2002
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
2006
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
2005
The structural basis of function in Cys-loop receptors
2010
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
1995 Nature
SWELL1, a Plasma Membrane Protein, Is an Essential Component of Volume-Regulated Anion Channel
2014 StandoutNobel
Control of TH17/Treg Balance by Hypoxia-Inducible Factor 1
2011 StandoutNobel
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation
2015 Standout
Survey of the year 2003 commercial optical biosensor literature
2004
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
A survey of the year 2002 commercial optical biosensor literature
2003
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Protein Tyrosine Phosphatases in the Human Genome
2004 Standout
An animal model for Charcot–Marie–Tooth disease type 4B1
2005
On the molecular architecture of myelinated fibers
2000
Structural Bases of Desensitization in AMPA Receptor-Auxiliary Subunit Complexes
2017 StandoutNobel
Production of Phosphatidylinositol 5-Phosphate by the Phosphoinositide 3-Phosphatase Myotubularin in Mammalian Cells
2004
Myotubularin phosphatases: policing 3-phosphoinositides
2006
TGF-β-induced Foxp3 inhibits TH17 cell differentiation by antagonizing RORγt function
2008 StandoutNature
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons
2013
Loss of Mtmr2 Phosphatase in Schwann Cells But Not in Motor Neurons Causes Charcot-Marie-Tooth Type 4B1 Neuropathy with Myelin Outfoldings
2005
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
2003
Sodium channelSCN1Aand epilepsy: Mutations and mechanisms
2010
Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis
2010 Standout
PMP22 Accumulation in Aggresomes: Implications for CMT1A Pathology
1999
Single-cell transcriptomic analysis of Alzheimer’s disease
2019 StandoutNature
Amyotrophic Lateral Sclerosis
2001 Standout
Specific Role of the Truncated βIV-Spectrin Σ6 in Sodium Channel Clustering at Axon Initial Segments and Nodes of Ranvier
2006 StandoutNobel
GENETICS OF MIGRAINE
1997
Mitochondrial Dynamics in Diabetes
2010
Ligand-Gated Ion Channels: New Insights into Neurological Disorders and Ligand Recognition
2012
Elucidation of AMPA receptor–stargazin complexes by cryo–electron microscopy
2016 StandoutScienceNobel
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network
2005
The regulation and function of Class III PI3Ks: novel roles for Vps34
2008
Familial Hemiplegic Migraine: A Clinical Comparison of Families Linked and Unlinked to Chromosome 19
1996
Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
1998
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosomerelated functions
2006
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
IL-17 Family Cytokines and the Expanding Diversity of Effector T Cell Lineages
2007 Standout
Generation of Candidate Ligands for Nicotinic Acetylcholine Receptors via in situ Click Chemistry with a Soluble Acetylcholine Binding Protein Template
2012 StandoutNobel
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice
2009
Molecular Structure and Physiological Function of Chloride Channels
2002
Autophagy and neurodegeneration
2015
Spermidine in health and disease
2018 StandoutScience
The Biology of Proteostasis in Aging and Disease
2015
Surface Plasmon Resonance Sensors for Detection of Chemical and Biological Species
2008 Standout
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP
2003
Bradykinin B1 and B2 receptors both have protective roles in renal ischemia/reperfusion injury
2007 StandoutNobel
Emerging Targets in Photopharmacology
2016 StandoutNobel
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot–Marie–Tooth 4B2-like peripheral neuropathy in mice
2008
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
T cell self-reactivity forms a cytokine milieu for spontaneous development of IL-17+ Th cells that cause autoimmune arthritis
2007 StandoutNobel
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9
2003
Works of Éric Leguern being referenced
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
1996
Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice
2010
First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene
2001
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
2011
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1
1995
Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
2009
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
2012
Familial form of typical childhood absence epilepsy in a consanguineous context
2010
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
2013
Expression of IL-17B in neurons and evaluation of its possible role in the chromosome 5q-linked form of Charcot–Marie–Tooth disease
2002
Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
2003
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
2013
Screening of OPTN in French familial amyotrophic lateral sclerosis
2011
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families
1997
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
1996
Depdc5 knockout rat: A novel model of mTORopathy
2016
A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3
1999
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
1997
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
2003
Genetic Refinement And Physical Mapping Of The CMT4B Gene On Chromosome 11Q22
2000
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
2016
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations
1998