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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

1682 ARTíCULOS , VIENDO DEL 46 AL 60

PUBMED

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis

Burgess J, Behzad-Noori D, Longman C, Brennan K.

BMJ Case Rep. 2020 Dec 22;13(12):e237978. doi: 10.1136/bcr-2020-237978.

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Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

Hotait M, Dirani M, El Halabi T, Beydoun A.

Front Genet. 2020 Dec 3;11:581253. doi: 10.3389/fgene.2020.581253. eCollection 2020.

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Anti-CV2/CRMP5 antibody-positive paraneoplastic neurological syndromes with chronic intestinal pseudo-obstruction in a small-cell lung cancer patient: a case report and literature review

Yan J, Chen Z, Liang Y, Yang H, Cao L, Zhou Y, Zhao Y, Zhang Y.

J Int Med Res. 2020 Dec;48(12):300060520974466. doi: 10.1177/0300060520974466.

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PUBMED

DNA damage in human glomerular endothelial cells induces nodular glomerulosclerosis via an ATR and ANXA2 pathway

Fujii A, Sunatani Y, Furuichi K, Fujimoto K, Adachi H, Iwabuchi K, Yokoyama H.

Sci Rep. 2020 Dec 17;10(1):22206. doi: 10.1038/s41598-020-79106-3.

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PARP Inhibition Increases the Reliance on ATR/CHK1 Checkpoint Signaling Leading to Synthetic Lethality-An Alternative Treatment Strategy for Epithelial Ovarian Cancer Cells Independent from HR Effectiveness

Gralewska P, Gajek A, Marczak A, Mikuła M, Ostrowski J, Śliwińska A, Rogalska A.

Int J Mol Sci. 2020 Dec 19;21(24):9715. doi: 10.3390/ijms21249715.

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The Development of Chylothorax in a Child With T-Cell Lymphoblastic Lymphoma and Ataxia Telangiectasia During Induction Therapy

Özyörük D, Güzelküçük Z, Hacisalihoglu Ş, Cinel G.

J Pediatr Hematol Oncol. 2020 Dec 23;Publish Ahead of Print. doi: 10.1097/MPH.0000000000002039. Online ahead of print.

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PUBMED

[Detection and analysis of dynamic variant in a pedigree affected with spinocerebellar ataxia type 3]

Chen C, Zhao X, Kong X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1364-1367. doi: 10.3760/cma.j.cn511374-20191225-00662.

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PUBMED

Genome-wide detection of short tandem repeat expansions by long-read sequencing

Liu Q, Tong Y, Wang K.

BMC Bioinformatics. 2020 Dec 28;21(Suppl 21):542. doi: 10.1186/s12859-020-03876-w.

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PUBMED

The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review

Colijn MA.

Psychiatr Genet. 2020 Dec;30(6):153-161. doi: 10.1097/YPG.0000000000000264.

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PUBMED

Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype

Huang Y, Jianfang M, Morales R, Tang H.

Prion. 2020 Dec;14(1):232-237. doi: 10.1080/19336896.2020.1812367.

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A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2

Zonta A, Brussino A, Dentelli P, Brusco A.

BMJ Case Rep. 2020 Dec 13;13(12):e238108. doi: 10.1136/bcr-2020-238108.

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PUBMED

Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity

Pavone P, Gulizia C, Le Pira A, Greco F, Parisi P, Di Cara G, Falsaperla R, Lubrano R, Minardi C, Spalice A, Ruggieri M.

Children (Basel). 2020 Dec 31;8(1):E16. doi: 10.3390/children8010016.

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PUBMED

ATM plays antioxidant, boosting mitophagy via denitrosylation

Cirotti C, Filomeni G.

Autophagy. 2020 Dec 17:1-3. doi: 10.1080/15548627.2020.1860490. Online ahead of print.

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PUBMED

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

Haify SN, Mankoe RSD, Boumeester V, van der Toorn EC, Verhagen RFM, Willemsen R, Hukema RK, Bosman LWJ.

Front Mol Biosci. 2020 Dec 14;7:599101. doi: 10.3389/fmolb.2020.599101. eCollection 2020.

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Adolph Seeligmüller's contribution to myotonia congenita Thomsen

Arendt C, Zierz S.

Neuromuscul Disord. 2020 Dec;30(12):999-1004. doi: 10.1016/j.nmd.2020.10.004. Epub 2020 Oct 20.

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