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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará la selección de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por International Parkinson & Movement Disorder Society.

Distonía

3923 ARTíCULOS , VIENDO DEL 46 AL 60

PUBMED

Multifactorial Assessment of Motor Behavior in Rats after Unilateral Sciatic Nerve Crush Injury

Knorr S, Rauschenberger L, Lang T, Volkmann J, Ip CW.

J Vis Exp. 2021 Jul 31;(173). doi: 10.3791/62606.

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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration,

Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1.

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PUBMED

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Aldosary M, Baselm S, Abdulrahim M, Almass R, Alsagob M, AlMasseri Z, Huma R, AlQuait L, Al-Shidi T, Al-Obeid E, AlBakheet A, Alahideb B, Alahaidib L, Qari A, Taylor RW, Colak D, AlSayed MD, Kaya N.

JIMD Rep. 2021 May 4;60(1):75-87. doi: 10.1002/jmd2.12218. eCollection 2021 Jul.

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Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype

Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L

JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul.

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Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene

Ganesh A, Sivakumar S, Manokaran R, Narasimhan U.

BMJ Case Rep. 2021 Aug 19;14(8):e244152. doi: 10.1136/bcr-2021-244152.

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The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness

Spahr A, Rosli Z, Legault M, Tran LT, Fournier S, Toutounchi H, Darbelli L, Madjar C, Lucia C, St-Jean ML, Das S, Evans AC, Bernard G.

Orphanet J Rare Dis. 2021 Jul 23;16(1):328. doi: 10.1186/s13023-021-01953-8.

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PUBMED

The evaluation of the swallow tail sign in patients with parkinsonism and gait disorders

Kim DS, Tung GA, Akbar U, Friedman JH.

J Neurol Sci. 2021 Jul 14;428:117581. doi: 10.1016/j.jns.2021.117581. Online ahead of print.

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PUBMED

Discovery of VU6028418: A Highly Selective and Orally Bioavailable M(4) Muscarinic Acetylcholine Receptor Antagonist

Spock M, Carter TR, Bollinger KA, Han C, Baker LA, Rodriguez AL, Peng L, Dickerson JW, Qi A, Rook JM, O'Neill JC, Watson KJ, Chang S, Bridges TM, Engers JL, Engers DW, Niswender CM, Conn PJ, Lindsley

ACS Med Chem Lett. 2021 Aug 2;12(8):1342-1349. doi: 10.1021/acsmedchemlett.1c00363. eCollection 2021 Aug 12.

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Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8

Doummar D, Treven M, Qebibo L, Devos D, Ghoumid J, Ravelli C, Kranz G, Krenn M, Demailly D, Cif L, Davion JB, Zimprich F, Burglen L, Zech M.

Ann Clin Transl Neurol. 2021 Aug 20. doi: 10.1002/acn3.51444. Online ahead of print.

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Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion

Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y.

Brain Dev. 2021 Jul 28:S0387-7604(21)00135-2. doi: 10.1016/j.braindev.2021.07.007. Online ahead of print.

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Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria

George J, Sandhya P, Sajitha KV, Sundaram S.

BMJ Case Rep. 2021 Jul 30;14(7):e244038. doi: 10.1136/bcr-2021-244038.

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PUBMED

Oculogyric crisis: a rare type of dystonia

Boi S, Garcia-Malo C, Rodríguez CI.

J Psychiatry Neurosci. 2021 Jul 5;46(4):E429-E430. doi: 10.1503/jpn.210026.

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Direct Targeting of the Anterior Nucleus of the Thalamus via 3 T Quantitative Susceptibility Mapping

Yu K, Ren Z, Yu T, Wang X, Hu Y, Guo S, Li J, Li Y.

Front Neurosci. 2021 Jul 5;15:685050. doi: 10.3389/fnins.2021.685050. eCollection 2021.

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Towards adaptive deep brain stimulation: clinical and technical notes on a novel commercial device for chronic brain sensing

Thenaisie Y, Palmisano C, Canessa A, Keulen BJ, Capetian P, Castro Jiménez M, Bally JF, Manferlotti E, Beccaria L, Zutt R, Courtine G, Bloch J, van der Gaag NA, Hoffmann CF, Martin Moraud E, Isaias IU

J Neural Eng. 2021 Aug 13. doi: 10.1088/1741-2552/ac1d5b. Online ahead of print.

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DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress

Shroff K, Caffall ZF, Calakos N.

Neurobiol Dis. 2021 Aug 3;158:105464. doi: 10.1016/j.nbd.2021.105464. Online ahead of print.

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