Published in Neurology on June 10, 2003
Crystal structure of the mammalian GIRK2 K+ channel and gating regulation by G proteins, PIP2, and sodium. Cell (2011) 2.69
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell (2010) 2.42
H bonding at the helix-bundle crossing controls gating in Kir potassium channels. Neuron (2007) 2.02
Phosphoinositide-mediated gating of inwardly rectifying K(+) channels. Pflugers Arch (2007) 1.92
Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). Heart Rhythm (2006) 1.74
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. Heart Rhythm (2006) 1.51
Channelopathies linked to plasma membrane phosphoinositides. Pflugers Arch (2010) 1.42
Regulation of the desensitization and ion selectivity of ATP-gated P2X2 channels by phosphoinositides. J Physiol (2006) 1.26
Molecular determinants of PI(4,5)P2 and PI(3,4,5)P3 regulation of the epithelial Na+ channel. J Gen Physiol (2007) 1.26
Molecular and genetic basis of sudden cardiac death. J Clin Invest (2013) 1.23
Diverse Kir modulators act in close proximity to residues implicated in phosphoinositide binding. J Physiol (2007) 1.15
Physiologic regulation of the epithelial sodium channel by phosphatidylinositides. Curr Opin Nephrol Hypertens (2008) 1.14
Binding and direct activation of the epithelial Na+ channel (ENaC) by phosphatidylinositides. J Physiol (2007) 1.13
Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. J Biol Chem (2010) 1.09
Andersen-Tawil syndrome. Indian Pacing Electrophysiol J (2006) 0.97
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review. Mol Genet Metab (2011) 0.95
Channelopathies of skeletal muscle excitability. Compr Physiol (2015) 0.94
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet (2006) 0.91
Energetics and location of phosphoinositide binding in human Kir2.1 channels. J Biol Chem (2013) 0.89
A structural determinant for the control of PIP2 sensitivity in G protein-gated inward rectifier K+ channels. J Biol Chem (2010) 0.89
Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis. Am J Physiol Heart Circ Physiol (2015) 0.89
Resuscitated sudden cardiac death in Andersen-Tawil syndrome. Heart Rhythm (2009) 0.88
In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol (2005) 0.85
Molecular Pathophysiology of Congenital Long QT Syndrome. Physiol Rev (2017) 0.85
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. J Physiol (2016) 0.82
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. Curr Cardiol Rev (2014) 0.82
Phosphoinositide regulation of inward rectifier potassium (Kir) channels. Front Physiol (2014) 0.80
Cardiac ion channels. Channels (Austin) (2015) 0.80
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. Circ Cardiovasc Genet (2010) 0.79
A digital atlas of ion channel expression patterns in the two-week-old rat brain. Neuroinformatics (2015) 0.79
Identification of the Conformational transition pathway in PIP2 Opening Kir Channels. Sci Rep (2015) 0.78
Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area. Childs Nerv Syst (2011) 0.76
Three pairs of weak interactions precisely regulate the G-loop gate of Kir2.1 channel. Proteins (2016) 0.75
Potassium channels in the heart: structure, function and regulation. J Physiol (2016) 0.75
Styrax blocks inward and outward current of Kir2.1 channel. Channels (Austin) (2016) 0.75
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome. HeartRhythm Case Rep (2016) 0.75
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. J Cardiol (2017) 0.75
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science (2001) 6.07
UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell (2001) 4.25
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet (1997) 3.90
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. Nat Med (1999) 3.27
Reversible thyroid dysfunction during treatment with GM-CSF. Lancet (1991) 2.77
Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell (2007) 2.63
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell (1991) 2.48
Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology (2000) 2.48
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci U S A (1994) 2.45
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron (2001) 2.29
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol (2001) 2.29
Phase II screening trial of lithium carbonate in amyotrophic lateral sclerosis: examining a more efficient trial design. Neurology (2011) 2.28
The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain (2005) 2.17
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell (1994) 2.15
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology (2006) 2.14
Mineralization of the stylohyoid-stylomandibular ligament complex. A radiographic incidence study. Oral Surg Oral Med Oral Pathol (1979) 2.13
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology (2006) 2.11
A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron (2001) 2.05
Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology (2010) 2.01
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron (1993) 1.94
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet (2003) 1.92
Submillimeter-wave phonon modes in DNA macromolecules. Phys Rev E Stat Nonlin Soft Matter Phys (2002) 1.86
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell (2001) 1.83
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet (1993) 1.81
Spatial mixture modeling of fMRI data. Hum Brain Mapp (2000) 1.75
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol (1999) 1.65
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology (2010) 1.63
Paraneoplastic necrotizing myopathy: clinical and pathological features. Neurology (1998) 1.61
The S4-S5 linker couples voltage sensing and activation of pacemaker channels. Proc Natl Acad Sci U S A (2001) 1.60
Identification of clinical staphylococcal isolates from humans by internal transcribed spacer PCR. J Clin Microbiol (2001) 1.54
Evidence for two pathways of meiotic intrachromosomal recombination in yeast. Proc Natl Acad Sci U S A (1989) 1.52
Pediatric sciatic neuropathies: a 30-year prospective study. Neurology (2011) 1.51
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
C1-inhibitor substitution therapy in septic shock and in the vascular leak syndrome induced by high doses of interleukin-2. Intensive Care Med (1993) 1.45
FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology (2007) 1.44
A phase II study of human rDNA alpha-2 interferon in patients with low grade non-Hodgkin's lymphoma. Cancer Chemother Pharmacol (1986) 1.43
Andersen's syndrome: a distinct periodic paralysis. Ann Neurol (1997) 1.42
Gene expression signatures for colorectal cancer microsatellite status and HNPCC. Br J Cancer (2005) 1.40
A dependent-rates model and an MCMC-based methodology for the maximum-likelihood analysis of sequences with overlapping reading frames. Mol Biol Evol (2001) 1.39
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet (1992) 1.37
[Neuropathy associated with arteriosclerosis]. Rev Neurol (1997) 1.37
Doppler evaluation of left and right ventricular diastolic function: a technical guide for obtaining optimal flow velocity recordings. J Am Soc Echocardiogr (1997) 1.37
Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center. Am J Hum Genet (2001) 1.36
Activation of the complement system during immunotherapy with recombinant IL-2. Relation to the development of side effects. J Immunol (1990) 1.34
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology (1994) 1.33
Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther (1994) 1.33
Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol (2001) 1.31
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain (1998) 1.30
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet (1995) 1.27
Crohn's disease: increased mortality 10 years after diagnosis in a Europe-wide population based cohort. Gut (2005) 1.26
Effect of type of haematology analyser on CD4 count. Lancet (1992) 1.26
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet (1996) 1.25
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol (1999) 1.23
Prognostic role of clinical, pathological and biological characteristics in patients with locally advanced breast cancer. Br J Cancer (1998) 1.23
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet (1993) 1.22
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology (2007) 1.22
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain (2005) 1.22
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet (2012) 1.22
Immature B cells in fetal development and immunodeficiency: studies of IgM, IgG, IgA and IgD production in vitro using Epstein-Barr virus activation. Eur J Immunol (1982) 1.21
Detection of a Cytosolic Glutamine Synthetase in Leaves of Nicotiana tabacum L. by Immunocytochemical Methods. Plant Physiol (1992) 1.21
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology (2007) 1.19
A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature (1993) 1.19
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet (2001) 1.19
Drivers and barriers to patient participation in RCTs. Br J Cancer (2013) 1.19
Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet (1998) 1.19
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet (2008) 1.18
A dynamical systems approach to motor development. Phys Ther (1990) 1.18
The definition of the 'no change' category in patients treated with endocrine therapy and chemotherapy for advanced carcinoma of the breast. Eur J Cancer Clin Oncol (1988) 1.17
Cinnarizine-induced parkinsonism: ten years later. Mov Disord (1998) 1.16
Human lymphocyte traffic assessed by indium-111 oxine labelling: clinical observations. Clin Exp Immunol (1981) 1.16
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology (1999) 1.16
New Secale cereale (rye) DNA derivatives for the detection of rye chromosome segments in wheat. Genome (1990) 1.16
Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology (2001) 1.15
Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am J Med Genet (1995) 1.15
OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet (1998) 1.15
A method for following human lymphocyte traffic using indium-111 oxine labelling. Clin Exp Immunol (1981) 1.15
Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. Gene (2001) 1.15
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet (2010) 1.14
T cell receptor-zeta and granzyme B expression in mononuclear cell infiltrates in normal colon mucosa and colon carcinoma. Gut (1997) 1.14
Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet (1994) 1.13
The phenotype standardization project: improving pharmacogenetic studies of serious adverse drug reactions. Clin Pharmacol Ther (2011) 1.12
Therapy with interleukin-2 induces the systemic release of phospholipase-A2. Cancer Immunol Immunother (1995) 1.12
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology (2002) 1.11