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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.

Ataxia

321 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype

Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardin

Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan.

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Development of an Immunohistochemical Assay to Detect the Ataxia-Telangiectasia Mutated (ATM) Protein in Gastric Carcinoma.

Miller RM, Nworu C, McKee L, Balcerzak D, Pham L, Pugh J, Liu YZ, Gustafson H, Marwah E, Lamb T, Clements J.

Appl Immunohistochem Mol Morphol. 2020 Apr;28(4):303-310. doi: 10.1097/PAI.0000000000000786.

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Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.

Zhang L, Jia Y, Qi X, Li M, Wang S, Wang Y.

Childs Nerv Syst. 2020 Apr;36(4):873-875. doi: 10.1007/s00381-019-04399-3. Epub 2019 Nov 5.

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Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

Legrand L, Diallo A, Monin ML, Ewenczyk C, Charles P, Isnard R, Vicaut E, Montalescot G, Durr A, Pousset F.

Am J Cardiovasc Drugs. 2020 Apr;20(2):209-216. doi: 10.1007/s40256-019-00375-z.

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PUBMED

Quantitative susceptibility mapping in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD).

Xie F, Weihua L, Lirong O, Wang X, Xing W.

Acta Radiol. 2020 Apr;61(4):520-527. doi: 10.1177/0284185119868906. Epub 2019 Aug 26. No abstract available.

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PUBMED

Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein.

Ashraf NS, Sutton JR, Yang Y, Ranxhi B, Libohova K, Shaw ED, Barget AJ, Todi SV, Paulson HL, Costa MDC.

Neurobiol Dis. 2020 Apr;137:104697. doi: 10.1016/j.nbd.2019.104697. Epub 2019 Nov 26.

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Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Mergener R, Furtado GV, de Mattos EP, Leotti VB, Jardim LB, Saraiva-Pereira ML.

Neuromolecular Med. 2020 Mar;22(1):133-138. doi: 10.1007/s12017-019-08572-4. Epub 2019 Oct 5.

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PUBMED

Acute cerebellar ataxia: a rare Toscana Virus (TOSV) meningoencephalitis complication.

Suardi LR, Di Lauria N, Pozzi M, Rogasi PG, Barilaro A, Azzolini F, Prestipino E, Colao MG, Rossolini GM, Bartoloni A.

Int J Neurosci. 2020 Mar;130(3):276-278. doi: 10.1080/00207454.2019.1673748. Epub 2019 Oct 7.

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PUBMED

Classic ataxia-telangiectasia: the phenotype of long-term survivors.

van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP.

J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27.

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Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Richmond CM, Leventer R, Ryan MM, Delatycki MB.

Clin Genet. 2020 Mar;97(3):516-520. doi: 10.1111/cge.13666. Epub 2019 Nov 14.

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PUBMED

Functional parameter measurements in children with ataxia telangiectasia.

Shenhod E, Benzeev B, Sarouk I, Heimer G, Nissenkorn A.

Dev Med Child Neurol. 2020 Feb;62(2):207-213. doi: 10.1111/dmcn.14334. Epub 2019 Aug 30.

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PUBMED

The Relationships Between Ataxia and Cognition in Spinocerebellar Ataxia Type 2.

Gigante AF, Lelli G, Romano R, Pellicciari R, Di Candia A, Mancino PV, Pau M, Fiore P, Defazio G.

Cerebellum. 2020 Feb;19(1):40-47. doi: 10.1007/s12311-019-01079-5.

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PUBMED

Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.

Kuo ME, Antonellis A, Shakkottai VG.

Cerebellum. 2020 Feb;19(1):154-160. doi: 10.1007/s12311-019-01080-y.

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PUBMED

Ataxia-telangiectasia mutated coordinates the ovarian DNA repair and atresia-initiating response to phosphoramide mustard.

Clark KL, Keating AF.

Biol Reprod. 2020 Feb 12;102(1):248-260. doi: 10.1093/biolre/ioz160.

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PUBMED

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.

J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.

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