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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

5566 ARTíCULOS , VIENDO DEL 121 AL 135

PUBMED

Zellweger Spectrum Disorder

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

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PUBMED

Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Douglas VP, Douglas KAA, Miller JB, Gaier ED.

J Neuroophthalmol. 2020 Sep 23. doi: 10.1097/WNO.0000000000001050. Online ahead of print.

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PUBMED

Postinfectious Cerebellar Syndrome With Paraneoplastic Antibodies: An Association or Coincidence?

Hameed S, Kumar M, Athwal PSS, Kahlon S, Dalal N.

Cureus. 2020 Sep 1;12(9):e10190. doi: 10.7759/cureus.10190.

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PUBMED

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM

Schröder S, Wieland B, Ohlenbusch A, Yigit G, Altmüller J, Boltshauser E, Dörk T, Brockmann K.

Am J Med Genet A. 2020 Sep 11. doi: 10.1002/ajmg.a.61870. Online ahead of print.

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Microelectrode Recording and Radiofrequency Thalamotomy following Focused Ultrasound Thalamotomy

De Vloo P, Milosevic L, Gramer RM, Dallapiazza RF, Lee DJ, Fasano A, Hutchison WD, Lozano AM, Schwartz ML, Kalia SK.

Stereotact Funct Neurosurg. 2020 Sep 16:1-4. doi: 10.1159/000510109. Online ahead of print.

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PUBMED

Hypomagnesemia-Induced Cerebellar Syndrome-A Distinct Disease Entity? Case Report and Literature Review

Kamm CP, Nyffeler T, Henzen C, Fischli S.

Front Neurol. 2020 Sep 8;11:968. doi: 10.3389/fneur.2020.00968. eCollection 2020.

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PUBMED

ATM inhibition synergizes with fenofibrate in high grade serous ovarian cancer cells

Chen CW, Buj R, Dahl ES, Leon KE, Aird KM.

Heliyon. 2020 Sep 29;6(9):e05097. doi: 10.1016/j.heliyon.2020.e05097. eCollection 2020 Sep.

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Ubiquitin-interacting motifs of ataxin-3 regulate its polyglutamine toxicity through Hsc70-4-dependent aggregation

Johnson SL, Ranxhi B, Libohova K, Tsou WL, Todi SV.

Elife. 2020 Sep 21;9:e60742. doi: 10.7554/eLife.60742.

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PUBMED

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

Loddo S, Alesi V, Radio FC, Genovese S, Di Tommaso S, Calvieri G, Orlando V, Bertini E, Dentici ML, Novelli A, Dallapiccola B.

Am J Med Genet A. 2020 Sep 27. doi: 10.1002/ajmg.a.61889. Online ahead of print.

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PUBMED

ATM inhibition overcomes resistance to histone deacetylase inhibitor due to p21 induction and cell cycle arrest

Scotto L, Serrano XJ, Zullo K, Kinahan C, Deng C, Sawas A, Bates S, O'Connor OA.

Oncotarget. 2020 Sep 15;11(37):3432-3442. doi: 10.18632/oncotarget.27723. eCollection 2020 Sep 15.

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PUBMED

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Rei

J Neurol Neurosurg Psychiatry. 2020 Sep 17:jnnp-2020-323719. doi: 10.1136/jnnp-2020-323719. Online ahead of print.

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PUBMED

Child Neurology: A novel presentation of Ataxia with Vitamin E deficiency caused by TTPA gene mutation

Vera AZ, Liu W, Thomas C, Gilbert DL.

Neurology. 2020 Sep 14:10.1212/WNL.0000000000010853. doi: 10.1212/WNL.0000000000010853. Online ahead of print.

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PUBMED

ATM mediated-p53 signaling pathway forms a novel axis for senescence control

Hwang SY, Kuk MU, Kim JW, Lee YH, Lee YS, Choy HE, Park SC, Park JT.

Mitochondrion. 2020 Sep 17;55:54-63. doi: 10.1016/j.mito.2020.09.002. Online ahead of print.

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PUBMED

Disseminated Mycobacterium avium subsp. hominissuis infection and ascites in an FIV-positive cat

Paharsingh I, Suepaul R, Gyan L, Hosein A, Pargass I.

Vet Clin Pathol. 2020 Sep 23. doi: 10.1111/vcp.12897. Online ahead of print.

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