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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará una actualización mensual de artículos sobre la enfermedad de Alzheimer/demencias y sobre los Trastornos del Movimiento clasificados según los 11 tipos establecidos por la International Parkinson & Movement Disorder Society.

173896 ARTíCULOS , VIENDO DEL 172051 AL 172065

PUBMED

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, Boespflug-Tanguy O, Ben Youssef-Turki I, Dorboz I.

Mol Genet Genomic Med. 2019 Sep;7(9):e914. doi: 10.1002/mgg3.914. Epub 2019 Jul 31.

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Relationship between jerky and sinusoidal oscillations in cervical dystonia.

Beylergil SB, Singh AP, Zee DS, Jinnah HA, Shaikh AG.

Parkinsonism Relat Disord. 2019 Jul 20. pii: S1353-8020(19)30314-1. doi: 10.1016/j.parkreldis.2019.07.024. [Epub ahead of print]

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Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing.

Ma J, Wang L, Yang Y, Li S, Wan X.

Front Neurol. 2019 Jul 4;10:729. doi: 10.3389/fneur.2019.00729. eCollection 2019.

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A motor control model of task-specific dystonia and its rehabilitation.

Sadnicka A, Rosset-Llobet J.

Prog Brain Res. 2019;249:269-283. doi: 10.1016/bs.pbr.2019.04.011. Epub 2019 Jul 1.

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PUBMED

Missense mutations in DYT-TOR1A dystonia.

Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M.

Neurol Genet. 2019 Jun 6;5(4):e343. doi: 10.1212/NXG.0000000000000343. eCollection 2019 Aug. No abstract available. Erratum in: Neurol Genet. 2019 Aug 15;5(4):e350.

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PUBMED

Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia.

Eskow Jaunarajs KL, Scarduzio M, Ehrlich ME, McMahon LL, Standaert DG.

J Neurosci. 2019 Sep 4;39(36):7195-7205. doi: 10.1523/JNEUROSCI.0407-19.2019. Epub 2019 Jul 18.

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PUBMED

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.

Giacomini T, Vari MS, Janis S, Prato G, Pisciotta L, Rocchi A, Michelucci A, Di Rocco M, Gandullia P, Mattioli G, Sacco O, Morana G, Mancardi MM.

Neuropediatrics. 2019 Oct;50(5):327-331. doi: 10.1055/s-0039-1692141. Epub 2019 Jul 18.

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PUBMED

The Consequences of Oromandibular Dystonia on Communicative Participation: A Qualitative Study of the Insider's Experiences.

Page AD, Siegel LH, Baylor CR, Adams SG, Yorkston KM.

Am J Speech Lang Pathol. 2019 Jul 15;28(2S):771-783. doi: 10.1044/2018_AJSLP-MSC18-18-0092. Epub 2019 Jul 15.

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PUBMED

Perturbed Ca(2+)-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia.

Osypenko DS, Dovgan AV, Kononenko NI, Dromaretsky AV, Matvieienko M, Rybachuk OA, Zhang J, Korogod SM, Venkataraman V, Belan P.

Neurobiol Dis. 2019 Jul 10;132:104529. doi: 10.1016/j.nbd.2019.104529. [Epub ahead of print]

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Effective botulinum toxin injection guide for treatment of cervical dystonia

Yi KH, Choi YJ, Cong L, Lee KL, Hu KS, Kim HJ.

Clin Anat. 2020 Mar;33(2):192-198. doi: 10.1002/ca.23430. Epub 2019 Jul 25.

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Clinical phenotypes associated with outcomes following deep brain stimulation for childhood dystonia.

Badhiwala JH, Karmur B, Elkaim LM, Alotaibi NM, Morgan BR, Lipsman N, De Vloo P, Kalia SK, Lozano AM, Ibrahim GM.

J Neurosurg Pediatr. 2019 Jul 12:1-9. doi: 10.3171/2019.5.PEDS1973. [Epub ahead of print]

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A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism.

Tavasoli A, Arjmandi Rafsanjani K, Hemmati S, Mojbafan M, Zarei E, Hosseini S.

BMC Pediatr. 2019 Jul 9;19(1):229. doi: 10.1186/s12887-019-1611-7.

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PUBMED

Expression of metabotropic glutamate 5 receptors in the striatum and cortex and effects of modulators on the severity of dystonia in the phenotypic dt(sz) model.

Perl S, Richter F, Gericke B, Richter A.

Eur J Pharmacol. 2019 Sep 15;859:172527. doi: 10.1016/j.ejphar.2019.172527. Epub 2019 Jul 5.

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The neurobiological basis for novel experimental therapeutics in dystonia.

Downs AM, Roman KM, Campbell SA, Pisani A, Hess EJ, Bonsi P.

Neurobiol Dis. 2019 Oct;130:104526. doi: 10.1016/j.nbd.2019.104526. Epub 2019 Jul 4. Review.

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Cognitive correlates of prospective memory in dystonia.

Maggi G, D'Iorio A, Mautone G, Peluso S, Manganelli F, Dubbioso R, Esposito M, Santangelo G.

Parkinsonism Relat Disord. 2019 Jul 2. pii: S1353-8020(19)30290-1. doi: 10.1016/j.parkreldis.2019.06.027. [Epub ahead of print]

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