| scholarly article | Q13442814 |
| P50 | author | Karin Jurkat-Rott | Q40401064 |
| Patricia de la Riva | Q52986784 | ||
| Coro Paisán-Ruíz | Q64855861 | ||
| P2093 | author name string | Vladimir Makarov | |
| Alberto Bergareche | |||
| Elena Sánchez | |||
| Ana Gorostidi | |||
| Javier Ruiz-Martinez | |||
| Jose Felix Marti-Masso | |||
| Catharine E Krebs | |||
| Marcin Bednarz | |||
| P2860 | cites work | Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 |
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| Ion channels--basic science and clinical disease | Q28239124 | ||
| Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene | Q28242463 | ||
| International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | Q28289125 | ||
| Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor | Q28943371 | ||
| The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research | Q29547257 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
| Essential tremor: a neurodegenerative disease? | Q30433136 | ||
| Ammonia triggers neuronal disinhibition and seizures by impairing astrocyte potassium buffering | Q30566719 | ||
| Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy | Q33590751 | ||
| How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor | Q34021342 | ||
| AnnTools: a comprehensive and versatile annotation toolkit for genomic variants | Q34132477 | ||
| Sodium channels and neurological disease: insights from Scn8a mutations in the mouse | Q34331937 | ||
| Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease | Q34792986 | ||
| Myasthenic syndrome caused by mutation of the SCN4A sodium channel | Q35163768 | ||
| The Use of Next-Generation Sequencing in Movement Disorders | Q35955394 | ||
| SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide | Q35959191 | ||
| SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor. | Q35997814 | ||
| Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features | Q36061729 | ||
| Exome sequencing identifies FUS mutations as a cause of essential tremor | Q36152927 | ||
| Slow inactivation does not block the aqueous accessibility to the outer pore of voltage-gated Na channels | Q36436472 | ||
| Essential tremor: emerging views of a common disorder | Q36658868 | ||
| Hypothetical membrane mechanisms in essential tremor | Q37035840 | ||
| The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures | Q37215037 | ||
| The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. | Q37325058 | ||
| Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. | Q37465444 | ||
| Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry | Q37745559 | ||
| Genetics of Parkinson's disease and essential tremor | Q37898444 | ||
| Genetics of essential tremor: meta-analysis and review | Q38188492 | ||
| Genotype phenotype associations across the voltage-gated sodium channel family | Q38243946 | ||
| Skeletal muscle sodium channelopathies. | Q38569011 | ||
| Essential tremor: an overdiagnosed condition? | Q39558844 | ||
| Genetic essential tremor in gamma-aminobutyric acidA receptor alpha1 subunit knockout mice. | Q42112489 | ||
| Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. | Q42686827 | ||
| Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder | Q42936044 | ||
| GABAergic dysfunction in essential tremor: an 11C-flumazenil PET study | Q43017019 | ||
| Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge | Q45881297 | ||
| Abnormal changes in voltage-gated sodium channels Na(V)1.1, Na(V)1.2, Na(V)1.3, Na(V)1.6 and in calmodulin/calmodulin-dependent protein kinase II, within the brains of spontaneously epileptic rats and tremor rats | Q46481909 | ||
| Clinical and surface EMG characteristics of valproate induced tremors. | Q46569191 | ||
| Calcium channel characteristics conferred on the sodium channel by single mutations | Q48494145 | ||
| Gaba and serotonin molecular neuroimaging in essential tremor: a clinical correlation study | Q48506905 | ||
| The role of spectroscopy in parkinsonism | Q48549739 | ||
| Is there cerebellar pathology in essential tremor? | Q50248105 | ||
| Mapping the site of block by tetrodotoxin and saxitoxin of sodium channel II. | Q50796508 | ||
| How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor | Q56047951 | ||
| Assessment of autonomic dysfunction in Parkinson's disease: The SCOPA-AUT | Q60728632 | ||
| The Washington Heights-Inwood Genetic Study of Essential Tremor: Methodologic Issues in Essential-Tremor Research | Q61046099 | ||
| Quantification of tremor with a digitizing tablet | Q68885107 | ||
| Depth asymmetries of the pore-lining segments of the Na+ channel revealed by cysteine mutagenesis | Q71078149 | ||
| Change in the concentrations of amino acids in CSF and serum of patients with essential tremor | Q71542494 | ||
| Oscillatory mechanism in primary sensory neurones | Q77639495 | ||
| Physiological interactions between Na(v)1.7 and Na(v)1.8 sodium channels: a computer simulation study | Q84975200 | ||
| Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene | Q85259560 | ||
| P433 | issue | 24 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pathogenesis | Q372016 |
| essential tremor | Q693519 | ||
| P304 | page(s) | 7111-7120 | |
| P577 | publication date | 2015-10-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy | |
| P478 | volume | 24 |
| Q55467690 | A Drosophila Model of Essential Tremor. |
| Q48241243 | A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome |
| Q99589427 | Candidate variants in TUB are associated with familial tremor |
| Q39180761 | Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor |
| Q36967712 | Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis |
| Q26772794 | Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison |
| Q92803769 | Possible role of SCN4A skeletal muscle mutation in apnea during seizure |
| Q38896436 | Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature |
| Q92564192 | Whole genome sequencing and rare variant analysis in essential tremor families |
| Q55275026 | Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease. |
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