Standout Papers
Citation Impact
Citing Papers
Divergent sodium channel defects in familial hemiplegic migraine
2008
Sex Differences in the Gut Microbiome Drive Hormone-Dependent Regulation of Autoimmunity
2013 StandoutScience
Pathophysiology of Migraine: A Disorder of Sensory Processing
2017 Standout
Familial hemiplegic migraine mutations increase Ca 2+ influx through single human Ca V 2.1 channels and decrease maximal Ca V 2.1 current density in neurons
2002
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
2015 Science
Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: A Fos protein study
2013
Specific Kinetic Alterations of Human CaV2.1 Calcium Channels Produced by Mutation S218L Causing Familial Hemiplegic Migraine and Delayed Cerebral Edema and Coma after Minor Head Trauma
2005
Diverse Functional Consequences of Mutations in the Na+/K+-ATPase α2-Subunit Causing Familial Hemiplegic Migraine Type 2
2008
CRISPR-mediated Genome Editing Restores Dystrophin Expression and Function in mdx Mice
2015
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22
1996
Engineering adeno-associated viruses for clinical gene therapy
2014
Interictal potentiation of passive "oddball" auditory event-related potentials in migraine
1998
RIM Proteins Tether Ca2+ Channels to Presynaptic Active Zones via a Direct PDZ-Domain Interaction
2011 StandoutNobel
Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice
1994
Calcitonin Gene‐Related Peptide Does Not Cause Migraine Attacks in Patients With Familial Hemiplegic Migraine
2011
The periaqueductal grey matter modulates trigeminovascular input: a role in migraine?
2001
Progress in determining the causes and treatment of multiple sclerosis
1999 Nature
Voltage-Gated Sodium Channels: Mutations, Channelopathies and Targets
2011
Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Nav1.1 (SCN1A) Na+Channel
2008
Mechanically-induced cortical spreading depression associated regional cerebral blood flow changes are blocked by Na+ ion channel blockade
2008
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1
2008
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
1989
Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group
1998
Is the genetic liability in multifactorial disorders higher in concordant than discordant monozygotic twin pairs? A population‐based family twin study of migraine without aura
2001
Screening for antisense modulation of dystrophin pre-mRNA splicing
2002
Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3
2007
Familial and Sporadic Hemiplegic Migraine: Diagnosis and Treatment
2012
Use of transgenic mice to study voltage-dependent Ca2+ channels
2001
The electrophysiology of migraine
2002
Migraine pathophysiology: lessons from mouse models and human genetics
2014
Presynaptic Ca2+ Channels Compete for Channel Type-Preferring Slots in Altered Neurotransmission Arising from Ca2+ Channelopathy
2004
Animal models of migraine: looking at the component parts of a complex disorder
2006
Habituation of evoked responses is greater in patients with familial hemiplegic migraine than in controls: a contrast with the common forms of migraine
2010
Voltage-gated calcium channels and pain
2006
Calcium channels in neurological disease
1997
Dystrophin Immunity in Duchenne's Muscular Dystrophy
2010
From migraine genes to mechanisms
2015
Transgenic mice that express a myelin basic protein-specific T cell receptor develop spontaneous autoimmunity
1993
Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors
2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
2005
The primary periodic paralyses: diagnosis, pathogenesis and treatment
2005
CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients
1999
Molecular basis of ancestral vertebrate electroreception
2017 StandoutNatureNobel
Multiple sclerosis. Updated risks for relatives
1988
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
Activation of 5‐HT1B/1D receptor in the periaqueductal gray inhibits nociception
2004
Migraine and stroke: a complex association with clinical implications
2011
An SCN9A channelopathy causes congenital inability to experience pain
2006 StandoutNature
Characterization of opioid receptors that modulate nociceptive neurotransmission in the trigeminocervical complex
2003
Immunoblot analysis of dystrophin-related protein (DRP)
1993
Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine
2010
A genetic basis for familial aggregation in multiple sclerosis
1995 Nature
Adaptive Evolution ofMRG, a Neuron-Specific Gene Family Implicated in Nociception
2003
Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene
2002
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice
1993 Nature
Targeted Exon Skipping in Transgenic hDMD Mice: A Model for Direct Preclinical Screening of Human-Specific Antisense Oligonucleotides
2004
Modulation of visual cortical excitability in migraine with aura: effects of 1 Hz repetitive transcranial magnetic stimulation
2002
CTLA4 promoter and exon 1 dimorphisms in multiple sclerosiso
1999
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
P2X4 receptors induced in spinal microglia gate tactile allodynia after nerve injury
2003 StandoutNature
Enterochromaffin Cells Are Gut Chemosensors that Couple to Sensory Neural Pathways
2017 StandoutNobel
Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
2018
PINK1/Parkin-mediated mitophagy in mammalian cells
2015
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
2002
Calcitonin gene‐related peptide (CGRP) modulates nociceptive trigeminovascular transmission in the cat
2004
Migraine — Current Understanding and Treatment
2002 Standout
Functional Analysis of a Migraine-Associated TRESK K+ Channel Mutation
2013
Painful peripheral neuropathy and sodium channel mutations
2014
The genetics of multiple sclerosis: principles, background and updated results of the United Kingdom systematic genome screen
1998
Interaction between Fast and Ultra-slow Inactivation in the Voltage-gated Sodium Channel
2002
Genomewide Scan of Multiple Sclerosis in Finnish Multiplex Families
1997
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
Cellular and Molecular Mechanisms of Pain
2009 StandoutNobel
Mechanism and management of migraine
2002
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
2003
Multiple Sclerosis
2000 Standout
Patterns of fos expression in the rostral medulla and caudal pons evoked by noxious craniovascular stimulation and periaqueductal gray stimulation in the cat
2005
Molecular genetics, natural history and the demise of childhood leukaemia
1999
Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus
2015 StandoutNatureNobel
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs
1991 Nature
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
1992
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
Natural history of multiple sclerosis
1994
International Union of Pharmacology. XLVII. Nomenclature and Structure-Function Relationships of Voltage-Gated Sodium Channels
2005 Standout
Invited review: Myoblast transfer: A possible therapy for inherited myopathies?
1991
Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy
2018
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts
1989 Nature
Evoked potentials and transcranial magnetic stimulation in migraine: published data and viewpoint on their pathophysiologic significance
2003
Diencephalic and brainstem mechanisms in migraine
2011
Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity
1997
CGRP and its receptors provide new insights into migraine pathophysiology
2010
Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse
2003
Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
1998
A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression
2004
The familial periodic paralyses and nondystrophic myotonias
1998
Molecular genetics of migraine
2009
Multiple Sclerosis: A Coordinated Immunological Attack against Myelin in the Central Nervous System
1996
Evidence of a genetic factor in migraine with aura: A population-based Danish twin study
1999
Migraine without aura: A population-based twin study
1999
Neuropathic pain: aetiology, symptoms, mechanisms, and management
1999 Standout
Mutation Analysis of the CACNA1A Calcium Channel Subunit Gene in 27 Patients With Sporadic Hemiplegic Migraine
2002
Migraine as a Risk Factor for Subclinical Brain Lesions
2004
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
2003 StandoutNatureNobel
Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product
2002
Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
1997
Characterization of a high affinity cocaine binding site in rat brain
1986
Protein Trans -Splicing as a Means for Viral Vector-Mediated In Vivo Gene Therapy
2008
Migraine Mutations Increase Stroke Vulnerability by Facilitating Ischemic Depolarizations
2011
Regulatory T Cell Clones Induced by Oral Tolerance: Suppression of Autoimmune Encephalomyelitis
1994 StandoutScience
Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse
2011
Tissue Engineering
1993 StandoutScience
Pearls and pitfalls in genetic studies of migraine
2013
Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine
2008
Intensity Dependence of the Cortical Auditory Evoked Potentials as A Surrogate Marker of Central Nervous System Serotonin Transmission in Man: Demonstration of A Central Effect for the 5Ht1B/1D Agonist Zolmitriptan (311C90, Zomig®).
1997
Organellophagy: Eliminating cellular building blocks via selective autophagy
2014
Ablation of P/Q-type Ca 2+ channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the α 1A -subunit
1999
Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion
2000
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
Posterior Hypothalamic and Brainstem Activation in Hemicrania Continua
2004
Enhanced Myocardial Function in Transgenic Mice Overexpressing the β 2 -Adrenergic Receptor
1994 StandoutScienceNobel
Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegans
2016
P/Q-Type Calcium-Channel Blockade in the Periaqueductal Gray Facilitates Trigeminal Nociception: A Functional Genetic Link for Migraine?
2002
Glutamine Repeats and Neurodegeneration
2000
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
2016
Inactivation of a Serotonin-Gated Ion Channel by a Polypeptide Toxin from Marine Snails
1998 StandoutScienceNobel
Casein Kinase Iδ Mutations in Familial Migraine and Advanced Sleep Phase
2013
Functional Consequences of Mutations in the Human α1ACalcium Channel Subunit Linked to Familial Hemiplegic Migraine
1999
Mechanisms of migraine aura revealed by functional MRI in human visual cortex
2001 Standout
Cytotoxic T lymphocyte antigen-4 (CTLA-4) limits the expansion of encephalitogenic T cells in experimental autoimmune encephalomyelitis (EAE)-resistant BALB/c mice
2002 StandoutNobel
Muscle Regeneration by Bone Marrow-Derived Myogenic Progenitors
1998 StandoutScience
Habituation of Visual and Intensity Dependence of Auditory Evoked Cortical Potentials Tends to Normalize Just Before and During the Migraine Attack
2000
Increased Wnt Signaling During Aging Alters Muscle Stem Cell Fate and Increases Fibrosis
2007 StandoutScience
Illegitimate Cre-dependent chromosome rearrangements in transgenic mouse spermatids
2000 StandoutNobel
Neural Science
2000 StandoutNobel
Spermidine in health and disease
2018 StandoutScience
Evidence for Differential Roles for NKG2D Receptor Signaling in Innate Host Defense against Coronavirus-Induced Neurological and Liver Disease
2007 StandoutNobel
Gene correction in hematopoietic progenitor cells by homologous recombination
2000 StandoutNobel
Delivery technologies for genome editing
2017
Bruchpilot Promotes Active Zone Assembly, Ca 2+ Channel Clustering, and Vesicle Release
2006 StandoutScienceNobel
Genetically targeted cell disruption in Caenorhabditis elegans
1997 StandoutNobel
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
2000
Neuropathology of degenerative cell death in Caenorhabditis elegans.
1997 StandoutNobel
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations
2010
Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura
2001
Delayed K + clearance associated with aquaporin-4 mislocalization: Phenotypic defects in brains of α-syntrophin-null mice
2003 StandoutNobel
Heterologous Protection Against Influenza by Injection of DNA Encoding a Viral Protein
1993 StandoutScience
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Clinical course in migraine
2008
Progress Toward Human Gene Therapy
1993
The relative role of genetic and environmental factors in migraine without aura
1999
Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein
2001 StandoutNobel
Familial Hemiplegic Migraine Type 1 Shows no Hypersensitivity to Nitric Oxide
2008
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics
1999 StandoutScience
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
2000
Neuronal Plasticity: Increasing the Gain in Pain
2000 StandoutScience
Trigger factors for familial hemiplegic migraine
2011
Neuropathology of Degenerative Cell Death inCaenorhabditis elegans
1997 StandoutNobel
The inheritance of migraine with aura estimated by means of structural equation modelling
1999
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Cocaine Receptors on Dopamine Transporters Are Related to Self-Administration of Cocaine
1987 StandoutScience
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype
2011 StandoutNobel
Impairment of the Ubiquitin-Proteasome System by Protein Aggregation
2001 StandoutScience
Dystrophin Dp71 Is Critical for the Clustered Localization of Potassium Channels in Retinal Glial Cells
2002
Structural basis for gating charge movement in the voltage sensor of a sodium channel
2011 StandoutNobel
TNF- and Cancer Therapy-Induced Apoptosis: Potentiation by Inhibition of NF-κB
1996 StandoutScience
Nontoxic nanopore electroporation for effective intracellular delivery of biological macromolecules
2019 StandoutNobel
Works of Dennis E. Bulman being referenced
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
1993
Dystrophin expression and somatic reversion in prednisone‐treated and untreated Duchenne dystrophy
1991
Point mutation in the human dystrophin gene: Identification through Western blot analysis
1991
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease
2011
Dystrophin expression in the human retina is required for normal function as defined by electroretinography
1993
A population‐based study of multiple sclerosis in twins: Update
1993
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
AGE OF ONSET IN SIBLINGS CONCORDANT FOR MULTIPLE SCLEROSIS
1991
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p
1995
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
1988 Nature
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
2013
Phenotype variation and newcomers in ion channel disorders
1997
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
2013
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
1990 Nature
Age-Related Conversion of Dystrophin-Negative to -Positive Fiber Segments of Skeletal but not Cardiac Muscle Fibers in Heterozygote mdx Mice
1990
The skeletal muscle sodium and chloride channel diseases
1995
A comparison of sporadic and familial multiple sclerosis
1990
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.
1989
The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation
2000
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
1999
A Population-Based Study of Multiple Sclerosis in Twins
1986 Standout
Allele frequencies of the third component of complement (C3) in MS patients.
1991
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.
1992