Artículos por temáticas

[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene].

Blanco-Barca Ó, Amado-Puentes A, Repáraz A, Melcón C, Torreira C.

Rev Neurol. 2016 Mar 1;62(5):238-9. Spanish. No abstract available.

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy.

Watson L, Smith DC, Scholefield J, Ballo R, Kidson S, Greenberg LJ, Wood MJ.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S107-9. doi: 10.7196/SAMJ.2016.v106i6.11010.

Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6.

Jayabal S, Ljungberg L, Watt AJ.

J Physiol. 2016 Aug 17. doi: 10.1113/JP273184. [Epub ahead of print]

A cause for childhood ataxia.

Steffan JS.

Elife. 2016 Mar 1;5. pii: e14523. doi: 10.7554/eLife.14523.

A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant.

Dahimene S, Page KM, Nieto-Rostro M, Pratt WS, D'Arco M, Dolphin AC.

Neurobiol Dis. 2016 Sep;93:243-56. doi: 10.1016/j.nbd.2016.05.020.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls

Ann Neurol. 2016 Oct;80(4). doi: 10.1002/ana.24762.

Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS).

Pelosi L, Leadbetter R, Mulroy E, Chancellor AM, Mossman S, Roxburgh R.

Muscle Nerve. 2016 Nov 15. doi: 10.1002/mus.25476. [Epub ahead of print]

Novel ATM mutations with ataxia-telangiectasia.

Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY, Chen SD, Cao L.

Neurosci Lett. 2016 Jan 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036.

Automated quantitative analysis to assess motor function in different rat models of impaired coordination and ataxia.

Kyriakou EI, van der Kieft JG, de Heer RC, Spink A, Nguyen HP, Homberg JR, van der Harst JE.

J Neurosci Methods. 2016 Aug 1;268:171-81. doi: 10.1016/j.jneumeth.2015.12.001.

Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3.

Duarte JV, Faustino R, Lobo M, Cunha G, Nunes C, Ferreira C, Januário C, Castelo-Branco M.

Hum Brain Mapp. 2016 Oct;37(10):3656-68. doi: 10.1002/hbm.23266.

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

Pedroso JL, Braga-Neto P, Escorcio-Bezerra ML, Abrahão A, de Albuquerque MV, Filho FM, de Souza PV, de Rezende Pinto WB, Borges FR Jr, Saraiva-Pereira ML, Jardim LB, Barsottini OG.

Cerebellum. 2016 Jan 29. [Epub ahead of print]

Barr humbug: acute cerebellar ataxia due to Epstein-Barr virus.

Davies B, Machin N, Lavin T, Ul Haq MA.

BMJ Case Rep. 2016 Aug 24;2016. pii: bcr2016215303. doi: 10.1136/bcr-2016-215303.

Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice.

Calatrava-Ferreras L, Gonzalo-Gobernado R, Reimers D, Herranz AS, Casarejos MJ, Jiménez-Escrig A, Regadera J, Velasco-Martín J, Vallejo-Muñoz M, Díaz-Gil JJ, Bazán E.

Int J Mol Sci. 2016 Dec 9;17(12). pii: E2066.

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, Mauro A.

J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029.

Accuracy and repeatability of two methods of gait analysis - GaitRite™ und Mobility Lab™ - in subjects with cerebellar ataxia.

Schmitz-Hübsch T, Brandt AU, Pfueller C, Zange L, Seidel A, Kühn AA, Paul F, Minnerop M, Doss S.

Gait Posture. 2016 Jul;48:194-201. doi: 10.1016/j.gaitpost.2016.05.014.