Artículos por temáticas

Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands.

Bazarsad S, Kim JY, Zhang X, Kim KY, Lee DY, Ryu MH, Kim J.

Yonsei Med J. 2018 Aug;59(6):717-726. doi: 10.3349/ymj.2018.59.6.717.

P 111 - Rehabilitation results in children with ataxia telengiectasia: three case reports.

Cankaya O, Seyhan K, Günel MK.

Gait Posture. 2018 Jul 24. pii: S0966-6362(18)31097-X. doi: 10.1016/j.gaitpost.2018.07.034. [Epub ahead of print] No abstract available.

Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14.

Nakazono A, Adachi N, Takahashi H, Seki T, Hamada D, Ueyama T, Sakai N, Saito N.

J Biol Chem. 2018 Aug 9. pii: jbc.RA118.002913. doi: 10.1074/jbc.RA118.002913. [Epub ahead of print]

Cerebello-spinal tDCS in ataxia: A randomized, double-blind, sham-controlled, crossover trial.

Benussi A, Dell'Era V, Cantoni V, Bonetta E, Grasso R, Manenti R, Cotelli M, Padovani A, Borroni B.

Neurology. 2018 Aug 22. pii: 10.1212/WNL.0000000000006210. doi: 10.1212/WNL.0000000000006210. [Epub ahead of print]

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

Krauthammer A, Lahad A, Goldberg L, Sarouk I, Weiss B, Somech R, Soudack M, Pessach IM.

BMC Pediatr. 2018 Jun 4;18(1):185. doi: 10.1186/s12887-018-1156-1.

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.

Hayer SN, Schelling Y, Huebener-Schmid J, Weber JJ, Hauser S, Schöls L.

Stem Cell Res. 2018 Jun 11;30:171-174. doi: 10.1016/j.scr.2018.06.006. [Epub ahead of print]

Executive dysfunction in patients with spinocerebellar ataxia type 3.

Tamura I, Takei A, Hamada S, Soma H, Nonaka M, Homma S, Moriwaka F.

J Neurol. 2018 May 3. doi: 10.1007/s00415-018-8883-y. [Epub ahead of print]

Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia.

Khdour OM, Bandyopadhyay I, Chowdhury SR, Visavadiya NP, Hecht SM.

Bioorg Med Chem. 2018 May 4. pii: S0968-0896(18)30671-0. doi: 10.1016/j.bmc.2018.05.005. [Epub ahead of print]

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Infante J, García A, Serrano-Cárdenas KM, González-Aguado R, Gazulla J, de Lucas EM, Berciano J.

J Neurol. 2018 Apr 25. doi: 10.1007/s00415-018-8872-1. [Epub ahead of print]

Familial and sporadic chronic progressive degenerative parietal ataxia.

Morihara R, Yamashita T, Deguchi K, Kurata T, Nomura E, Sato K, Nakano Y, Ohta Y, Hishikawa N, Ikeuchi T, Kitaguchi M, Abe K.

J Neurol Sci. 2018 Apr 15;387:70-74. doi: 10.1016/j.jns.2018.01.031. Epub 2018 Jan 31.

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.