Artículos por temáticas

Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes.

Chirino A, Hernandez-Castillo CR, Galvez V, Contreras A, Diaz R, Beltran-Parrazal L, Fernandez-Ruiz J.

Eur J Neurosci. 2018 Sep 26. doi: 10.1111/ejn.14148. [Epub ahead of print]

Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.

O'Keefe JA, Robertson EE, Ouyang B, Carns D, McAsey A, Liu Y, Swanson M, Bernard B, Berry-Kravis E, Hall DA.

Gait Posture. 2018 Sep 12;66:288-293. doi: 10.1016/j.gaitpost.2018.09.005. [Epub ahead of print]

Functional and Structural Brain Damage in Friedreich's Ataxia.

Vavla M, Arrigoni F, Nordio A, De Luca A, Pizzighello S, Petacchi E, Paparella G, D'Angelo MG, Brighina E, Russo E, Fantin M, Colombo P, Martinuzzi A.

Front Neurol. 2018 Sep 6;9:747. doi: 10.3389/fneur.2018.00747. eCollection 2018.

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.

Pediatric opsoclonus-myoclonus-ataxia syndrome: Experience from a tertiary care university hospital.

Huddar A, Bindu PS, Nagappa M, Bharath RD, Sinha S, Mathuranath PS, Taly AB.

Neurol India. 2018 Sep-Oct;66(5):1332-1337. doi: 10.4103/0028-3886.241404.

Opsoclonus myoclonus ataxia syndrome.

Khadilkar S, Benny R.

Neurol India. 2018 Sep-Oct;66(5):1293-1294. doi: 10.4103/0028-3886.241373. No abstract available.

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.

Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z.

Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways.

Zeng L, Zhang D, McLoughlin HS, Zalon AJ, Aravind L, Paulson HL.

PLoS One. 2018 Sep 19;13(9):e0204438. doi: 10.1371/journal.pone.0204438. eCollection 2018.

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Lin CC, Gan SR, Gupta D, Alaedini A, Green PH, Kuo SH.

Cerebellum. 2018 Sep 18. doi: 10.1007/s12311-018-0978-6. [Epub ahead of print]

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia.

Takazaki KAG, Rezende TJR, Martinez ARM, Gonzalez-Salazar C, Nucci A, Lopes-Cendes I, França MC Jr.

Clin Neurophysiol. 2018 Aug 31;129(11):2290-2295. doi: 10.1016/j.clinph.2018.08.017. [Epub ahead of print]

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Bosch AM, Kamsteeg EJ, Rodenburg RJ, van Deutekom AW, Buis DR, Engelen M, Cobben JM.

Mol Genet Metab Rep. 2018 Sep 13;17:19-21. doi: 10.1016/j.ymgmr.2018.09.002. eCollection 2018 Dec.

Selective Forces Related to Spinocerebellar Ataxia Type 2.

Sena LS, Castilhos RM, Mattos EP, Furtado GV, Pedroso JL, Barsottini O, de Amorim MMP, Godeiro C, Pereira MLS, Jardim LB.

Cerebellum. 2018 Sep 15. doi: 10.1007/s12311-018-0977-7. [Epub ahead of print]

Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors.

Stezin A, Venkatesh SD, Thennarasu K, Purushottam M, Jain S, Yadav R, Pal PK.

J Neurol Sci. 2018 Sep 1;394:14-18. doi: 10.1016/j.jns.2018.08.024. [Epub ahead of print]

Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag.

Cherif K, Gérard C, Rousseau J, Ouellet DL, Chapdelaine P, Tremblay JP.

Mol Ther Nucleic Acids. 2018 Sep 7;12:19-32. doi: 10.1016/j.omtn.2018.04.009. Epub 2018 Apr 27.

Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study.

Napoli E, Schneider A, Wang JY, Trivedi A, Carrillo NR, Tassone F, Rogawski M, Hagerman RJ, Giulivi C.

Mol Neurobiol. 2018 Sep 5. doi: 10.1007/s12035-018-1330-3. [Epub ahead of print]