Artículos por temáticas

Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia.

Weihua Z, Haitao R, Fang F, Xunzhe Y, Jing W, Hongzhi G.

Cerebellum. 2019 Jun 10. doi: 10.1007/s12311-019-01048-y. [Epub ahead of print]

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.

Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, Tsuji S.

Intern Med. 2019 Jun 7. doi: 10.2169/internalmedicine.2953-19. [Epub ahead of print]

A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).

Mishra SK, Khosa S, Trikamji B, Khanli HM, Scheuner MT, Jamal NI, Hanssen AM.

J Clin Neurosci. 2019 Jun 6. pii: S0967-5868(19)30589-2. doi: 10.1016/j.jocn.2019.05.044. [Epub ahead of print]

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.

J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.

Pearls & Oy-sters: Paroxysmal dysarthria-ataxia syndrome: Acoustic analysis in a case of antiphospholipid syndrome.

Gessani A, Cavallieri F, Budriesi C, Zucchi E, Malagoli M, Contardi S, Mascia MT, Giovannini G, Mandrioli J.

Neurology. 2019 Jun 4;92(23):e2727-e2731. doi: 10.1212/WNL.0000000000007619. No abstract available.

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

Benussi A, Borroni B.

Neurology. 2019 Jun 4;92(23):1122. doi: 10.1212/WNL.0000000000007625. No abstract available.

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

Matsugi A.

Neurology. 2019 Jun 4;92(23):1121. doi: 10.1212/WNL.0000000000007623. No abstract available.

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

Lewis A, Galetta S.

Neurology. 2019 Jun 4;92(23):1121. doi: 10.1212/WNL.0000000000007624. No abstract available.

p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia.

Helma R, Bažantová P, Petr M, Adámik M, Renčiuk D, Tichý V, Pastuchová A, Soldánová Z, Pečinka P, Bowater RP, Fojta M, Brázdová M.

Molecules. 2019 May 31;24(11). pii: E2078. doi: 10.3390/molecules24112078.

Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.

Park JH, Jang W, Youn J, Ki CS, Kim BJ, Kim HT, Louis ED, Cho JW.

Brain Behav. 2019 Jun 3:e01337. doi: 10.1002/brb3.1337. [Epub ahead of print]

Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.

Shirafuji T, Shimazaki H, Miyagi T, Ueyama T, Adachi N, Tanaka S, Hide I, Saito N, Sakai N.

Mol Cell Neurosci. 2019 May 31;98:46-53. doi: 10.1016/j.mcn.2019.05.005. [Epub ahead of print]

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.

Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G.

PLoS One. 2019 Jun 3;14(6):e0217776. doi: 10.1371/journal.pone.0217776. eCollection 2019.

CNS-Specific Synthesis of Interleukin 23 Induces a Progressive Cerebellar Ataxia and the Accumulation of Both T and B Cells in the Brain: Characterization of a Novel Transgenic Mouse Model.

Nitsch L, Zimmermann J, Krauthausen M, Hofer MJ, Saggu R, Petzold GC, Heneka MT, Getts DR, Becker A, Campbell IL, Müller M.

Mol Neurobiol. 2019 Jun 2. doi: 10.1007/s12035-019-1640-0. [Epub ahead of print]

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

Thomas-Black GJ, Parkinson MH, Bremner F, Giunti P.

Brain. 2019 Jun 1;142(6):e23. doi: 10.1093/brain/awz117. No abstract available.

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common Portuguese" and Novel Mutations in Two Belarusian Families."

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA.

J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27.