Artículos por temáticas

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.

Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, K

J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5.

New approaches to discovering drugs that treat dystonia.

Pirio Richardson S, Jinnah HA.

Expert Opin Drug Discov. 2019 Jun 4:1-8. doi: 10.1080/17460441.2019.1623785. [Epub ahead of print]

Assessment of the effects of Kinesiotaping on musical motor performance in musicians suffering from focal hand dystonia: a pilot study.

Bravi R, Ioannou CI, Minciacchi D, Altenmüller E.

Clin Rehabil. 2019 Jun 4:269215519852408. doi: 10.1177/0269215519852408. [Epub ahead of print]

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6.

Ahn JH, Kim AR, Kim NKD, Park WY, Kim JS, Kim M, Park J, Lee JI, Cho JW, Cho KR, Youn J.

J Mov Disord. 2019 May;12(2):120-124. doi: 10.14802/jmd.19006. Epub 2019 May 30.

Comorbidity and retirement in cervical dystonia.

Ortiz RM, Scheperjans F, Mertsalmi T, Pekkonen E.

J Neurol. 2019 May 31. doi: 10.1007/s00415-019-09402-0. [Epub ahead of print]

Network localization of cervical dystonia based on causal brain lesions.

Corp DT, Joutsa J, Darby RR, Delnooz CCS, van de Warrenburg BPC, Cooke D, Prudente CN, Ren J, Reich MM, Batla A, Bhatia KP, Jinnah HA, Liu H, Fox MD.

Brain. 2019 Jun 1;142(6):1660-1674. doi: 10.1093/brain/awz112.

Direct comparison of oscillatory activity in the motor system of Parkinson's disease and dystonia: A review of the literature and meta-analysis.

Piña-Fuentes D, van Dijk JMC, Drost G, van Zijl JC, van Laar T, Tijssen MAJ, Beudel M.

Clin Neurophysiol. 2019 Jun;130(6):917-924. doi: 10.1016/j.clinph.2019.02.015. Epub 2019 Mar 15.

Anosognosia Is Associated With Greater Caregiver Burden and Poorer Executive Function in Huntington Disease

Wibawa P, Zombor R, Dragovic M, Hayhow B, Lee J, Panegyres PK, Rock D, Starkstein SE.

J Geriatr Psychiatry Neurol. 2020 Jan;33(1):52-58. doi: 10.1177/0891988719856697. Epub 2019 Jun 18.

Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease.

Yu-Taeger L, Stricker-Shaver J, Arnold K, Bambynek-Dziuk P, Novati A, Singer E, Lourhmati A, Fabian C, Magg J, Riess O, Schwab M, Stolzing A, Danielyan L, Nguyen HHP.

Cells. 2019 Jun 15;8(6). pii: E595. doi: 10.3390/cells8060595.

Bilateral Chorea Associated with Acute Caudate Nucleus Infarctions.

Qu Y, Jin H, Guo ZN, Zhang FL, Liu J, Qin HQ, Yang Y.

Can J Neurol Sci. 2019 Jun 14:1-2. doi: 10.1017/cjn.2019.50. [Epub ahead of print] No abstract available.

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.

Nishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, Mizobuchi M, Sakurai K, Osaki Y, Morita Y, Watanabe M, Yoshida K, Yamane K, Miyakoshi N, Okiyama R, Ueda T, Wakasugi N, Saitoh Y, Sak

Neurol Genet. 2019 May 1;5(3):e332. doi: 10.1212/NXG.0000000000000332. eCollection 2019 Jun.

End-of-life measures in Huntington disease: HDQLIFE Meaning and Purpose, Concern with Death and Dying, and End of Life Planning.

Carlozzi NE, Boileau NR, Paulsen JS, Perlmutter JS, Lai JS, Hahn EA, McCormack MK, Nance MA, Cella D, Barton SK, Downing NR.

J Neurol. 2019 Jun 12. doi: 10.1007/s00415-019-09417-7. [Epub ahead of print]

Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease.

Sanchis A, García-Gimeno MA, Cañada-Martínez AJ, Sequedo MD, Millán JM, Sanz P, Vázquez-Manrique RP.

Exp Mol Med. 2019 Jun 5;51(6):65. doi: 10.1038/s12276-019-0264-9.

HTT haplogroups in Finnish patients with Huntington disease.

Ylönen S, Sipilä JOT, Hietala M, Majamaa K.

Neurol Genet. 2019 Apr 22;5(3):e334. doi: 10.1212/NXG.0000000000000334. eCollection 2019 Jun.

AAV5-miHTT Gene Therapy Demonstrates Sustained Huntingtin Lowering and Functional Improvement in Huntington Disease Mouse Models.

Spronck EA, Brouwers CC, Vallès A, de Haan M, Petry H, van Deventer SJ, Konstantinova P, Evers MM.

Mol Ther Methods Clin Dev. 2019 Mar 16;13:334-343. doi: 10.1016/j.omtm.2019.03.002. eCollection 2019 Jun 14.