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234 results

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Quoted phrase not found in phrase index: "Dystonia 32"
Page 1
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
A machine learning method, funNCion, was used to predict loss-of-function (LoF)/gain-of-function (GoF) impact of genetic variants, and a heuristic severity score was designed to analyze genotype/phenotype correlations. ...Severity score was significantly high …
A machine learning method, funNCion, was used to predict loss-of-function (LoF)/gain-of-function (GoF) impact of genetic variants, an …
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-p …
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, hav …
Hypertonia Assessment Tool.
Marsico P, Frontzek-Weps V, Balzer J, van Hedel HJ. Marsico P, et al. J Child Neurol. 2017 Jan;32(1):132-138. doi: 10.1177/0883073816671681. Epub 2016 Oct 15. J Child Neurol. 2017. PMID: 27742862
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scores, subtype, and hypertonia diagnosis for each extremity. ...Validity of the Hypertonia Assessment Tool to test spasticity is confirmed, …
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scor …
Lumateperone for the Treatment of Schizophrenia.
Edinoff A, Wu N, deBoisblanc C, Feltner CO, Norder M, Tzoneva V, Kaye AM, Cornett EM, Kaye AD, Viswanath O, Urits I. Edinoff A, et al. Psychopharmacol Bull. 2020 Sep 14;50(4):32-59. Psychopharmacol Bull. 2020. PMID: 33012872 Free PMC article. Review.
Second Generation antipsychotics target more specific dopamine and sometimes serotonin receptors with less dystonic side effects; however, there are additional concerns for the development of metabolic syndrome. ...Another study found that 42mg of Lumateperone significantl …
Second Generation antipsychotics target more specific dopamine and sometimes serotonin receptors with less dystonic side effects; how …
Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.
Khosravani S, Chen G, Ozelius LJ, Simonyan K. Khosravani S, et al. Neurobiol Dis. 2021 Jan;148:105223. doi: 10.1016/j.nbd.2020.105223. Epub 2020 Dec 11. Neurobiol Dis. 2021. PMID: 33316367 Free PMC article.
Focal dystonias are the most common forms of isolated dystonia; however, the etiopathophysiological signatures of disorder penetrance and clinical manifestation remain unclear. ...We further used a supervised machine-learning algorithm to predict the risk for …
Focal dystonias are the most common forms of isolated dystonia; however, the etiopathophysiological signatures of disorder pen …
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Himmelreich N, Blau N, Thöny B. Himmelreich N, et al. Mol Genet Metab. 2021 Jun;133(2):123-136. doi: 10.1016/j.ymgme.2021.04.003. Epub 2021 Apr 19. Mol Genet Metab. 2021. PMID: 33903016 Review.
From a total of 324 alleles, 11 are associated with the autosomal recessive form of GTPCH deficiency presenting with hyperphenylalaninemia (HPA) and neurotransmitter deficiency, 295 GCH1 variant alleles are detected in the dominant form of L-dopa-responsive dystonia (DRD o …
From a total of 324 alleles, 11 are associated with the autosomal recessive form of GTPCH deficiency presenting with hyperphenylalaninemia ( …
Pathogenesis and pathophysiology of functional (psychogenic) movement disorders.
Baizabal-Carvallo JF, Hallett M, Jankovic J. Baizabal-Carvallo JF, et al. Neurobiol Dis. 2019 Jul;127:32-44. doi: 10.1016/j.nbd.2019.02.013. Epub 2019 Feb 21. Neurobiol Dis. 2019. PMID: 30798005 Review.
Although a high prevalence of depression and anxiety is observed in these patients, a definitive role of psychiatric disorders in FMDs has not been proven, and many patients do not endorse such manifestations. ...Correlating with this is a loss of intentional bindin …
Although a high prevalence of depression and anxiety is observed in these patients, a definitive role of psychiatric disorders …
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (ove …
Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patie …
Smell and taste in cervical dystonia.
Herr T, Hummel T, Vollmer M, Willert C, Veit B, Gamain J, Fleischmann R, Lehnert B, Mueller JU, Stenner A, Kronenbuerger M. Herr T, et al. J Neural Transm (Vienna). 2020 Mar;127(3):347-354. doi: 10.1007/s00702-020-02156-4. Epub 2020 Feb 15. J Neural Transm (Vienna). 2020. PMID: 32062706 Free PMC article.
Regression analysis suggests that age is the main predictor for olfactory decline in subjects with cervical dystonia. Moreover, performance in the Montreal Cognitive Assessment is a predictor for gustatory decline in cervical dystonia subjects. Finding …
Regression analysis suggests that age is the main predictor for olfactory decline in subjects with cervical dystonia. Moreover …
Bruxism in Movement Disorders: A Comprehensive Review.
Ella B, Ghorayeb I, Burbaud P, Guehl D. Ella B, et al. J Prosthodont. 2017 Oct;26(7):599-605. doi: 10.1111/jopr.12479. Epub 2016 Apr 14. J Prosthodont. 2017. PMID: 27077925 Review.
The purpose of this article was to review cases of bruxism reported in various movement disorders. The biomedical literature was searched for publications reporting the association of bruxism with various types of movement disorders. ...In Parkinsonian syndromes, AB …
The purpose of this article was to review cases of bruxism reported in various movement disorders. The biomedical literature was sear …
234 results