Artículos por temáticas

A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.

Celiksoy MH, Ozyavuz Cubuk P, Guner SN, Yildiran A.

J Pediatr Hematol Oncol. 2018 Apr 3. doi: 10.1097/MPH.0000000000001134. [Epub ahead of print]

Progress in the treatment of Friedreich ataxia.

Tai G, Corben LA, Yiu EM, Milne SC, Delatycki MB.

Neurol Neurochir Pol. 2018 Mar;52(2):129-139. doi: 10.1016/j.pjnns.2018.02.003. Epub 2018 Feb 19. Review.

Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia.

Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB.

Sci Rep. 2018 Mar 22;8(1):5007. doi: 10.1038/s41598-018-23168-x.

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review.

Milne SC, Murphy A, Georgiou-Karistianis N, Yiu EM, Delatycki MB, Corben LA.

Gait Posture. 2018 Jan 4;61:149-162. doi: 10.1016/j.gaitpost.2017.12.031. [Epub ahead of print] Review.

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Tchapyjnikov D, Mikati MA.

Neurologist. 2018 Jan;23(1):17-18. doi: 10.1097/NRL.0000000000000168.

Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy.

Al-Subhi N, Ali R, Abdel-Fatah T, Moseley PM, Chan SYT, Green AR, Ellis IO, Rakha EA, Madhusudan S.

Breast Cancer Res Treat. 2018 Feb 2. doi: 10.1007/s10549-018-4683-4. [Epub ahead of print]

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, A

JAMA Neurol. 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121. [Epub ahead of print]

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT.

J Inherit Metab Dis. 2018 Feb 20. doi: 10.1007/s10545-018-0151-x. [Epub ahead of print]

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Bowie E, Norris R, Anderson KV, Goetz SC.

PLoS Genet. 2018 Dec 10;14(12):e1007844. doi: 10.1371/journal.pgen.1007844. eCollection 2018 Dec.

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia.

Garali I, Adanyeguh IM, Ichou F, Perlbarg V, Seyer A, Colsch B, Moszer I, Guillemot V, Durr A, Mochel F, Tenenhaus A.

Brief Bioinform. 2018 Nov 27;19(6):1356-1369. doi: 10.1093/bib/bbx060.

Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.

Belbellaa B, Reutenauer L, Monassier L, Puccio H.

Hum Mol Genet. 2018 Dec 13. doi: 10.1093/hmg/ddy427. [Epub ahead of print]

PLD3 and spinocerebellar ataxia.

Gonzalez AC, Stroobants S, Reisdorf P, Gavin AL, Nemazee D, Schwudke D, D'Hooge R, Saftig P, Damme M.

Brain. 2018 Nov 1;141(11):e78. doi: 10.1093/brain/awy258. No abstract available.

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.

Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P.

Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018.

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

Saeidi K, Saleh Gohari N, Mansouri Nejad SE.

Iran J Child Neurol. 2018 Fall;12(4):111-119.

Édouard Manet's Tabes Dorsalis: From Painful Ataxia to Phantom Limb.

Bogousslavsky J, Tatu L.

Front Neurol Neurosci. 2018;43:59-75. doi: 10.1159/000490405. Epub 2018 Oct 18.