Artículos por temáticas

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]

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.

Tang SY, Shaikh AG.

Cerebellum. 2018 Dec 6. doi: 10.1007/s12311-018-0990-x. [Epub ahead of print] Review.

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.

Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin O, Ruzzene M, Bertini E, Zanotti G, Brini M, Calì T, Carafoli E.

Neurobiol Dis. 2018 Apr 12;115:157-166. doi: 10.1016/j.nbd.2018.04.009. [Epub ahead of print]

Addition of Digoxin Improves Cardiac Function in Children With the Dilated Cardiomyopathy With Ataxia Syndrome: A Mitochondrial Cardiomyopathy.

Greenway SC, Dallaire F, Hazari H, Patel D, Khan A.

Can J Cardiol. 2018 Aug;34(8):972-977. doi: 10.1016/j.cjca.2018.02.019. Epub 2018 Mar 1.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.

Eur J Med Genet. 2018 Dec 17. pii: S1769-7212(18)30416-6. doi: 10.1016/j.ejmg.2018.12.010. [Epub ahead of print]

Inhibition of NF-κB signaling in IKKβF/F;LysM Cre mice causes motor deficits but does not alter pathogenesis of Spinocerebellar ataxia type 1.

Ferro A, Qu W, Lukowicz A, Svedberg D, Johnson A, Cvetanovic M.

PLoS One. 2018 Jul 5;13(7):e0200013. doi: 10.1371/journal.pone.0200013. eCollection 2018.

Ataxia-Telangiectasia Mutated Kinase Is an Autophagic Balancer at The Onset of Heart Failure.

Yoshioka J.

Am J Physiol Heart Circ Physiol. 2018 May 11. doi: 10.1152/ajpheart.00270.2018. [Epub ahead of print] No abstract available.

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]

WITHDRAWN: Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study.

[No authors listed]

Biosci Trends. 2018 Jul 15. doi: 10.5582/bst.2018.01060. [Epub ahead of print]

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.

Vannocci T, Notario Manzano R, Beccalli O, Bettegazzi B, Grohovaz F, Cinque G, de Riso A, Quaroni L, Codazzi F, Pastore A.

Dis Model Mech. 2018 May 24. pii: dmm.032706. doi: 10.1242/dmm.032706. [Epub ahead of print]

Reply: PLD3 and spinocerebellar ataxia.

Ma KY, Verbeek DS.

Brain. 2018 Nov 1;141(11):e79. doi: 10.1093/brain/awy259. No abstract available.

Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner.

Kim JH, Lukowicz A, Qu W, Johnson A, Cvetanovic M.

Glia. 2018 Jul 25. doi: 10.1002/glia.23451. [Epub ahead of print]

Bidirectional Connections between Depression and Ataxia Severity in Spinocerebellar Ataxia Type 3 Patients.

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

Eur Neurol. 2018 May 15;79(5-6):266-271. doi: 10.1159/000489398. [Epub ahead of print]

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]

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M,

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.