Standout Papers
Citation Impact
Citing Papers
A monomeric G protein-coupled receptor isolated in a high-density lipoprotein particle efficiently activates its G protein
2007 StandoutNobel
Voltage sensor conformations in the open and closed states in rosetta structural models of K + channels
2006 StandoutNobel
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Genetic and environmental risk factors for idiopathic inflammatory myopathies
2002
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
1997 StandoutNature
Acute motor axonal neuropathy: An antibody‐mediated attack on axolemma
1996
Inclusion body myositis: Clinical and pathological boundaries
1996
Voltage-Gated Sodium Channels: Mutations, Channelopathies and Targets
2011
An Olfactory Sensory Map in the Fly Brain
2000 StandoutNobel
Electrophysiological classification of guillain‐barré syndrome: Clinical associations and outcome
1998 Standout
Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis
1998 StandoutNobel
Plasma exchange for Guillain-Barré syndrome
2002
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
X-ray structure of a voltage-dependent K+ channel
2003 StandoutNatureNobel
Carbonic anhydrase inhibitors: Inhibition of human, bacterial, and archaeal isozymes with benzene-1,3-disulfonamides—Solution and crystallographic studies
2007
Crystal Structure and Functional Analysis of the HERG Potassium Channel N Terminus
1998 StandoutNobel
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
1992
Evidence that the Drosophila olfactory mutant smellblind defines a novel class of sodium channel mutation.
1994
Guillain-Barré syndrome
2016 Standout
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
1995 Standout
Evidence for voltage-dependent S4 movement in sodium channels
1995
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
Ion-channel defects and aberrant excitability in myotonia and periodic paralysis
1996
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
1992
A Spatial Map of Olfactory Receptor Expression in the Drosophila Antenna
1999 StandoutNobel
A molecular basis for gating mode transitions in human skeletal muscle Na+ channels
1993
STRUCTURE AND FUNCTION OF VOLTAGE-GATED ION CHANNELS
1995
Positional cloning of the mouse obese gene and its human homologue
1994 StandoutNature
Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathies1This paper was presented at the 50th Annual Meeting of the American Academy of Neurology, Minneapolis, MN, USA, April 1998.1
1999
Interaction between the sodium channel inactivation linker and domain III S4-S5
1997
Identification of genes expressed in C. elegans touch receptor neurons
2002 StandoutNatureNobel
A mutated acetylcholine receptor subunit causes neuronal degeneration in C. elegans
1995 StandoutNobel
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
2004
Ion Channel Voltage Sensors: Structure, Function, and Pathophysiology
2010
Triplet repeat expansion in neuromuscular disease
2000
Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg
1993
Muscle biopsy findings in inflammatory myopathies
2002
Physiology and Pathophysiology of Sodium Channel Inactivation
2016
Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L‐type Ca2+ channel expressed in Xenopus laevis oocytes
1999
Microsatellite repeat instability and neurological disease
2009
TRPV1 structures in distinct conformations reveal activation mechanisms
2013 StandoutNatureNobel
Intravenous Immunoglobulin Treatment in Children with Guillain-Barre Syndrome
1995
From Ionic Currents to Molecular Mechanisms
2000 Standout
SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
2006
Ion Channel Mutations in Periodic Paralysis and Related Myotonic Diseasesa
1993
Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect
1996
Structure of the TRPV1 ion channel determined by electron cryo-microscopy
2013 StandoutNatureNobel
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
1994
Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever
1997
Interaction between Fast and Ultra-slow Inactivation in the Voltage-gated Sodium Channel
2002
Immunopathogenesis and treatment of the guillain‐barré syndrome—part I
1995
Olfaction in Drosophila: from odor to behavior
1996
Cellular and Molecular Mechanisms of Pain
2009 StandoutNobel
Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: Present status and practical therapeutic guidelines
1999
Peripheral neuropathies and anti-glycolipid antibodies
2002
Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding
1992
Ability to Remove Immunoglobulins and Antiganglioside Antibodies by Double Filtration Plasmapheresis in Guillain‐Barré Syndrome: Is It Equivalent to Plasma Exchange?
1997
Molecular genetics of cell death in the nematode Caenorhabditis elegans
1992
Points of control in inflammation
2002 StandoutNature
X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity
2002 StandoutNatureNobel
Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy
2018
Intracellular amyloid-β in Alzheimer's disease
2007 Standout
Polymyositis and dermatomyositis
2003 Standout
Idiopathic inflammatory myopathies: epidemiology, classification, and diagnostic criteria
2002
Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
1998
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
1995 Standout
The familial periodic paralyses and nondystrophic myotonias
1998
Matrix metalloproteinases MMP‐9 and MMP‐7 are expressed in experimental autoimmune neuritis and the guillain‐barré syndrome
1998
C. elegans cell survival gene ced-9 encodes a functional homolog of the mammalian proto-oncogene bcl-2
1994 StandoutNobel
Genetically Augmenting Aβ42 Levels in Skeletal Muscle Exacerbates Inclusion Body Myositis-Like Pathology and Motor Deficits in Transgenic Mice
2006
Expression of specific matrix metalloproteinases in inflammatory myopathies
2001
Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
1997
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
1994
Amino Acid Sequences Common to Rapidly Degraded Proteins: The PEST Hypothesis
1986 StandoutScience
Inclusion body myositis-like phenotype induced by transgenic overexpression of βAPP in skeletal muscle
2002
Opening the gates on ion channel diseases
1992
A 3-Mb Region for the FamilialHemiplegie Migraine Locus on19p13.1-p13.2: Exclusion ofPRKCSH as a Candidate Gene
1996
Emergent Ion-Gated Binding of Cationic Host–Guest Complexes within Cationic M12L24 Molecular Flasks
2014 StandoutNobel
Magnesium in Man: Implications for Health and Disease
2014 Standout
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
1994
Fusion of Two Immunoglobulin-producing Myeloma Cells
1973 StandoutNatureNobel
Movement of Voltage Sensor S4 in Domain 4 Is Tightly Coupled to Sodium Channel Fast Inactivation and Gating Charge Immobilization
1999
Mammalian reticulocytes lose adhesion to fibronectin during maturation to erythrocytes.
1985 StandoutNobel
Inclusion-body myositis
2006
Applications of carbonic anhydrase inhibitors and activators in therapy
2002
Guillain-Barr� syndrome and chronic inflammatory demyelinating polyneuropathy: Immune mechanisms and update on current therapies
1995
MOD-1 is a serotonin-gated chloride channel that modulates locomotory behaviour in C. elegans
2000 StandoutNatureNobel
The role of membrane lipids in the survival of red cells in hereditary spherocytosis
1969
Inactivation of a Serotonin-Gated Ion Channel by a Polypeptide Toxin from Marine Snails
1998 StandoutScienceNobel
Biosynthesis of immunoglobulins
1972
Mechanisms of action of IVIg and therapeutic considerations in the treatment of acute and chronic demyelinating neuropathies
2002
Sodium Channel Defects in Myotonia and Periodic Paralysis
1996
Inheritance Pattern and Clinical Response to Splenectomy as a Reflection of Erythrocyte Spectrin Deficiency in Hereditary Spherocytosis
1986 StandoutNobel
Hereditary Spherocytosis and Related Disorders
1985
Azathioprine with Prednisone for Polymyositis
1980
Neural Science
2000 StandoutNobel
Carbonic anhydrase inhibitors and their therapeutic potential
2000
Realistic simulation of the activation of voltage-gated ion channels
2012 StandoutNobel
Hormones and Neurotransmitters Control Cyclic AMP Metabolism in Choroid Plexus Epithelial Cells
1984 StandoutNobel
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
1994
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations
2010
Aromatic Sulfonyl Fluorides Covalently Kinetically Stabilize Transthyretin to Prevent Amyloidogenesis while Affording a Fluorescent Conjugate
2013 StandoutNobel
Two functionally dependent acetylcholine subunits are encoded in a single Caenorhabditis elegans operon
1998 StandoutNobel
Alcohol-induced Malabsorption of Vitamin B12 in Man
1969 Nature
Microvascular Deposition of Complement Membrane Attack Complex in Dermatomyositis
1986
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to Eag and cyclic nucleotide-gated channels
1997 StandoutNobel
Transgenic expression of B‐APP in fast‐twitch skeletal muscle leads to calcium dyshomeostasis and IBM‐like pathology
2006
A family of potassium channel genes related to eag in Drosophila and mammals.
1994
Partial deficiency of erythrocyte spectrin in hereditary spherocytosis
1985 StandoutNatureNobel
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
1995
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
The Mating of a Fly
1994 StandoutScienceNobel
Carbonic Anhydrase as a Model for Biophysical and Physical-Organic Studies of Proteins and Protein−Ligand Binding
2008
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Genetics of complement deficiencies associated with lupus-like syndromes
1978
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype
2011 StandoutNobel
Multiple Binding Modes of Inhibitors to Carbonic Anhydrases: How to Design Specific Drugs Targeting 15 Different Isoforms?
2012 Standout
Structural basis for gating charge movement in the voltage sensor of a sodium channel
2011 StandoutNobel
Works of Robert C. Griggs being referenced
The myotonic disorders and the periodic paralyses.
1977
Treatment of inflammatory myopathies with azathioprine.
1968
The Periodic Paralyses
1992
Myotonic dystrophy with no trinucleotide repeat expansion
1994
Inclusion body myositis and myopathies
1995 Standout
Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis
1997
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
1992
Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease
1994
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
1991
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
1996
The primary periodic paralyses: diagnosis, pathogenesis and treatment
2005
Myasthenic Syndromes Attributed to Mutations Affecting the Epsilon Subunit of the Acetylcholine Receptora
1993
Genetics and Physiology of the Myotonic Muscle Disorders
1993
Sodium channel inactivation defects are associated with acetazolamide‐exacerbated hypokalemic periodic paralysis
2001
Prednisone in Duchenne Dystrophy
1991
Inclusion body myositis
2002
Primary episodic ataxias: diagnosis, pathogenesis and treatment
2007
End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
1996
A puzzling case of periodic paralysis
1996
Inclusion body myositis
2007
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
1995
Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
1994
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
1996
Opportunities and challenges in academic neurology: Report of long range planning committee of the american neurological association
1996
Cerebrospinal Fluid in Diseases of the Nervous System
1981
Acetazolamide Treatment of Hypokalemic Periodic Paralysis
1970
Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history
1983
Hereditary myokymia and periodic ataxia
1975
Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy
2016
ALTERATIONS IN OSMOTIC AND MECHANICAL FRAGILITY RELATED TO IN VIVO ERYTHROCYTE AGING AND SPLENIC SEQUESTRATION IN HEREDITARY SPHEROCYTOSIS*†
1960
Evaluation and Treatment of Myopathies
1995
Hereditary paroxysmal ataxia
1978
Corticosteroids in Duchenne muscular dystrophy: Major variations in practice
2013
Linkage of atypical myotonia congenita to a sodium channel locus
1992
Hereditary complement (C2) deficiency with dermatomyositis
1975
The current status of treatment for inclusion-body myositis
2006
Chapter 6
1979
Acetazolamide‐responsive myotonia congenita
1987
Hypokalemic periodic paralysis exacerbated by acetazolamide
1981
Recurrent Encephalopathy
1969
Randomized trials of dichlorphenamide in the periodic paralyses
2000
Effects of acetazolamide on myotonia
1978
Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
1994
The effect of alcoholism on the absorption of folic acid (H3-PGA) evaluated by plasma levels and urine excretion.
1967
Changes and new features in Neurology
1998