Citation Impact
Citing Papers
2017 Standout
Benchmarking the stability of human detergent-solubilised voltage-gated sodium channels for structural studies using eel as a reference
2015 StandoutNobel
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
1996
Mitochondria, oxidative stress and neurodegeneration
2012
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
2008
Modulation of the W748S mutation in DNA polymerase γ by the E1143G polymorphismin mitochondrial disorders
2006
Na+ Channel ? Subunits: Overachievers of the Ion Channel Family
2011
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
2010
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Crystal Structure of a Phosphoinositide Phosphatase, MTMR2
2003
NaV1.1 channels and epilepsy
2010
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Mammalian phosphoinositide kinases and phosphatases
2009 StandoutNobel
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
2002 Standout
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009
2010 Standout
PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin
2010 Standout
The Roles of PINK1, Parkin, and Mitochondrial Fidelity in Parkinson’s Disease
2015 Standout
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
2009 StandoutNobel
Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome
2002 Standout
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Many facets of the peripheral myelin protein PMP22 in myelination and disease
1998
Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients
1998
Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy
2006
Mitochondrial DNA polymerase-γ and human disease
2006
novoSNP, a novel computational tool for sequence variation discovery
2005
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Modeling the human Na<sub>v</sub>1.5 sodium channel: structural and mechanistic insights of ion permeation and drug blockade
2017 StandoutNobel
Mitochondria: In Sickness and in Health
2012 Standout
Alzheimer Disease: An Update on Pathobiology and Treatment Strategies
2019 Standout
A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q
1998
Autosomal dominant nocturnal frontal lobe epilepsy
2004
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
2004
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
Direct visualization of Parkinson's disease by in vivo human brain imaging using 7.0T magnetic resonance imaging
2011
Ataxia in mitochondrial disorders
2011
NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders
2008
Chromosome 21 and Down syndrome: from genomics to pathophysiology
2004 Standout
Inherited disorders of voltage-gated sodium channels
2005
Mechanisms of mitophagy
2010 Standout
Clinician’s Guide to Cardiopulmonary Exercise Testing in Adults
2010 Standout
Cellular and Molecular Mechanisms of Pain
2009 StandoutNobel
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
2011
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
2010
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
BACE1-/- mice exhibit seizure activity that does not correlate with sodium channel level or axonal localization
2010
Genome architecture, rearrangements and genomic disorders
2002
SANDO: Two novel mutations in POLG1 gene
2006
The role of iron in brain ageing and neurodegenerative disorders
2014 Standout
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
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
Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin
2005
Mapping short DNA sequencing reads and calling variants using mapping quality scores
2008 Standout
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
The peripheral myelin protein 22 and epithelial membrane protein family
2000
MOLECULAR MECHANISMS FOR GENOMIC DISORDERS
2002
MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS
2000
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
2005
The Role of Oxidative Stress in Neurodegenerative Diseases
2015 Standout
DNA Polymerase γ in Mitochondrial DNA Replication and Repair
2005
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Functional Diagnostics in Mitochondrial Diseases
2007
Diabetic Cardiomyopathy
2018 Standout
De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling
1997
Vacuole Size Control: Regulation of PtdIns(3,5)P2Levels by the Vacuole-associated Vac14-Fig4 Complex, a PtdIns(3,5)P2-specific Phosphatase
2003
Maintaining Ancient Organelles
2015
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Oxidative stress, mitochondrial damage and neurodegenerative diseases.
2013 Standout
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
COMPARATIVE PRIMATE GENOMICS
2004 StandoutNobel
Claudins and the Modulation of Tight Junction Permeability
2013 Standout
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Molecular mechanism underlying a Cx50-linked congenital cataract
1999
Structural Dynamics of Eukaryotic Chromosome Evolution
2003 StandoutScience
Oxidative Stress: A Key Modulator in Neurodegenerative Diseases
2019 Standout
Inherited Mitochondrial Diseases of DNA Replication
2007
Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
2006 StandoutNobel
Works of Ann Löfgren being referenced
De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy
2003
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
2003
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths
2002
Spinocerebellar ataxia type 7 (SCA7) – correlations between phenotype and genotype in one large Belgian family
1999
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)
1996
Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations
1997
Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis
1993
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
2003
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
2004
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
2003