Artículos por temáticas

Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8.

De Souza MT, Vera-Lozada G, Othman M, Marques-Salles TJ, Pinto LW, da Rocha MM, Rouxinol S, Liehr T, Ribeiro RC, Hassan R, Silva MLM.

Ann Lab Med. 2018 Jan;38(1):63-66. doi: 10.3343/alm.2018.38.1.63. No abstract available.

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.

Télot L, Rousseau E, Lesuisse E, Garcia C, Morlet B, Léger T, Camadro JM, Serre V.

Biochim Biophys Acta. 2018 Apr;1864(4 Pt A):997-1009. doi: 10.1016/j.bbadis.2018.01.010. Epub 2018 Jan 9.

Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.

Yang JS, Chen PP, Lin MT, Qian MZ, Lin HX, Chen XP, Shang XJ, Wang DN, Chen YC, Jiang B, Chen YJ, Wang N, Chen WJ, Gan SR.

Cerebellum. 2018 Feb 23. doi: 10.1007/s12311-018-0929-2. [Epub ahead of print]

RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication.

Neil AJ, Liang MU, Khristich AN, Shah KA, Mirkin SM.

Nucleic Acids Res. 2018 Feb 13. doi: 10.1093/nar/gky099. [Epub ahead of print]

[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].

Liptai Z.

Orv Hetil. 2018 Dec;159(49):2057-2064. doi: 10.1556/650.2018.31271. Hungarian.

Integrative network and brain expression analysis reveals mechanistic modules in ataxia.

Eidhof I, van de Warrenburg BP, Schenck A.

J Med Genet. 2018 Dec 27. pii: jmedgenet-2018-105703. doi: 10.1136/jmedgenet-2018-105703. [Epub ahead of print]

Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.

Ye F, Chai W, Yang M, Xie M, Yang L.

Mol Clin Oncol. 2018 Nov;9(5):493-498. doi: 10.3892/mco.2018.1721. Epub 2018 Sep 17.

The Ataxia telangiectasia-mutated and Rad3-related protein kinase regulates cellular hydrogen sulfide concentrations.

Chen J, Shen X, Pardue S, Meram AT, Rajendran S, Ghali GE, Kevil CG, Shackelford RE.

DNA Repair (Amst). 2018 Nov 13. pii: S1568-7864(18)30103-4. doi: 10.1016/j.dnarep.2018.11.002. [Epub ahead of print]

Instrumented finger-to-nose test classification in children with ataxia or developmental coordination disorder and controls.

Martinez-Manzanera O, Lawerman TF, Blok HJ, Lunsing RJ, Brandsma R, Sival DA, Maurits NM.

Clin Biomech (Bristol, Avon). 2018 Oct 6;60:51-59. doi: 10.1016/j.clinbiomech.2018.10.007. [Epub ahead of print]

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP.

Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Alsina D, Purroy R, Ros J, Tamarit J.

Pharmaceuticals (Basel). 2018 Sep 19;11(3). pii: E89. doi: 10.3390/ph11030089. Review.

[Significance of whole exome sequencing in the diagnostics of rare neurological diseases - own experiences through a case presenting with ataxia].

Balicza P, Grosz Z, Bencsik R, Illés A, Gál A, Gézsi A, Molnár MJ.

Orv Hetil. 2018 Jul;159(28):1163-1169. doi: 10.1556/650.2018.31049. Hungarian.

Teaching Video NeuroImages: Upward gaze palsy is a sign of spinocerebellar ataxia type 3.

Nascimento FA, Marques Garcia BC, Teive HAG.

Neurology. 2018 Jul 31;91(5):e494. doi: 10.1212/WNL.0000000000005913. No abstract available.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group..

Neurology. 2018 Aug 10. pii: 10.1212/WNL.0000000000006121. doi: 10.1212/WNL.0000000000006121. [Epub ahead of print]

Use of optokinetic chart stimulation to restore mobility and reduce ataxia in a patient with pseudo-Cushing ataxia.

Chitambira B, McConaghy C.

BMJ Case Rep. 2018 Aug 23;2018. pii: bcr-2018-225346. doi: 10.1136/bcr-2018-225346.