Artículos por temáticas

A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.

Vannocci T, Dinarelli S, Girasole M, Pastore A, Longo G.

Sci Rep. 2019 Dec 17;9(1):19282. doi: 10.1038/s41598-019-55799-z.

Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia

Ando S, Kanazawa M, Onodera O.

J Mov Disord. 2020 Jan;13(1):20-26. doi: 10.14802/jmd.19061. Epub 2019 Dec 19.

Development of SaraHome: A novel, well-accepted, technology-based assessment tool for patients with ataxia

Summa S, Schirinzi T, Bernava GM, Romano A, Favetta M, Valente EM, Bertini E, Castelli E, Petrarca M, Pioggia G, Vasco G.

Comput Methods Programs Biomed. 2020 May;188:105257. doi: 10.1016/j.cmpb.2019.105257. Epub 2019 Dec 2.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.

Barcia G, Assouline Z, Pennisi A, Gitiaux C, Schiff M, Boddaert N, Munnich A, Bonnefont JP, Rötig A.

Mol Genet Metab Rep. 2019 Nov 6;21:100528. doi: 10.1016/j.ymgmr.2019.100528. eCollection 2019 Dec. No abstract available.

Turkish version of Brief Ataxia Rating Scale

Acar Arslan E, Erden A, Dilber B, Esenülkü G, Şahin S, Kamaşak T, Özkan Kart P, Arslan E, Topbaş M, Cansu A.

Disabil Rehabil. 2021 Aug;43(17):2497-2501. doi: 10.1080/09638288.2019.1701101. Epub 2019 Dec 12.

Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2

Ruiz-García R, Martínez-Hernández E, Joubert B, Petit-Pedrol M, Pajarón-Boix E, Fernández V, Salais L, Del Pozo M, Armangué T, Sabater L, Dalmau J, Graus F.

Neurol Neuroimmunol Neuroinflamm. 2019 Dec 11;7(2):e658. doi: 10.1212/NXI.0000000000000658. Print 2020 Mar.

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Akçimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Gama MTD, Dicaire MJ, Barsottini OG, Brais B, Pedroso JL, Dion PA, Rouleau GA.

Front Genet. 2019 Nov 22;10:1219. doi: 10.3389/fgene.2019.01219. eCollection 2019.

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

Jamali F, Ghaedi H, Tafakhori A, Alehabib E, Chapi M, Daftarian N, Darvish H, Jamshidi J.

Arch Iran Med. 2019 Dec 1;22(12):728-730.

Clinical Presentation of Ataxia-Telangiectasia.

Alyasin S, Esmaeilzadeh H, Ebrahimi N, Nabavizadeh SH, Nemati H.

Arch Iran Med. 2019 Dec 1;22(12):682-686.

Diffusion Tensor Magnetic Resonance Imaging for Differentiating Multiple System Atrophy Cerebellar Type and Spinocerebellar Ataxia Type 3.

Jao CW, Soong BW, Huang CW, Duan CA, Wu CC, Wu YT, Wang PS.

Brain Sci. 2019 Dec 3;9(12). pii: E354. doi: 10.3390/brainsci9120354.

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2

Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, González-Zaldívar Y, Cuello-Almarales D, Vázquez-Mojena Y, Canales-Ochoa N, Aguiar-S

J Neurol Sci. 2020 Feb 15;409:116586. doi: 10.1016/j.jns.2019.116586. Epub 2019 Nov 22.

Impaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study.

Bando K, Honda T, Ishikawa K, Takahashi Y, Mizusawa H, Hanakawa T.

Front Neurol. 2019 Nov 14;10:1183. doi: 10.3389/fneur.2019.01183. eCollection 2019.

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

Mavrogeni S, Giannakopoulou A, Katsalouli M, Pons RM, Papavasiliou A, Kolovou G, Noutsias M, Papadopoulos G, Karanasios E, Chrousos GP.

J Neuromuscul Dis. 2020;7(1):61-67. doi: 10.3233/JND-180373.

Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology

Bolotta A, Pini A, Abruzzo PM, Ghezzo A, Modesti A, Gamberi T, Ferreri C, Bugamelli F, Fortuna F, Vertuani S, Manfredini S, Zucchini C, Marini M.

Exp Biol Med (Maywood). 2020 Feb;245(3):201-212. doi: 10.1177/1535370219890873. Epub 2019 Dec 3.

Implicit contextual learning in spinocerebellar ataxia

Ulasoglu-Yildiz C, Gurvit H.

Neuropsychology. 2020 Jul;34(5):511-523. doi: 10.1037/neu0000614. Epub 2019 Dec 2.