Artículos por temáticas

Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series.

Simon AL, Meyblum J, Roche B, Vidal C, Mazda K, Husson I, Ilharreborde B.

Spine Deform. 2019 Sep;7(5):812-821. doi: 10.1016/j.jspd.2019.02.005. Epub 2019 Dec 30.

Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options.

Cahn S, Rosen A, Wilmot G.

Mov Disord Clin Pract. 2019 Nov 25;7(1):37-44. doi: 10.1002/mdc3.12859. eCollection 2020 Jan.

Quantitative Assessment of Speech in Cerebellar Ataxia Using Magnitude and Phase Based Cepstrum

Kashyap B, Pathirana PN, Horne M, Power L, Szmulewicz D.

Ann Biomed Eng. 2020 Apr;48(4):1322-1336. doi: 10.1007/s10439-020-02455-7. Epub 2020 Jan 21.

Concurrence of multiple sclerosis, oligodendroglioma, and autosomal recessive cerebellar ataxia with spasticity in the same patient: A challenging diagnosis

Algahtani H, Shirah B, Tashkandi M, Samkari A.

Mult Scler Relat Disord. 2020 May;40:101945. doi: 10.1016/j.msard.2020.101945. Epub 2020 Jan 11.

Characterization of Mesenchymal Stem Cells Derived from Patients with Cerebellar Ataxia: Downregulation of the Anti-Inflammatory Secretome Profile

Kim JH, Han J, Seo D, Yoon JH, Yoon D, Hong J, Kim SR, Kim MS, Lee TY, Kim KS, Ko PW, Lee HW, Suk K.

Cells. 2020 Jan 15;9(1):212. doi: 10.3390/cells9010212.

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13

Dziurdzik SK, Bean BDM, Davey M, Conibear E.

Hum Mol Genet. 2020 Mar 13;29(4):635-648. doi: 10.1093/hmg/ddz318.

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, Fortuni S, Serio D, Quatrana A, Luffarelli R, Benini M, Alfedi G, Panarello L, Rufini A, Toschi N, Frontali M, Romano S, Marcotulli C, C

Hum Mol Genet. 2020 Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306.

The Rise of Cerebellar Ataxia in South Korea: 2002-2016

Park Y, Park KW.

J Clin Neurol. 2020 Jan;16(1):175-176. doi: 10.3988/jcn.2020.16.1.175.

Predictors of loss of ambulation in Friedreich's ataxia

Rummey C, Farmer JM, Lynch DR.

EClinicalMedicine. 2020 Jan 8;18:100213. doi: 10.1016/j.eclinm.2019.11.006. eCollection 2020 Jan.

Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials

Nishizawa M, Onodera O, Hirakawa A, Shimizu Y, Yamada M; Rovatirelin Study Group.

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):254-262. doi: 10.1136/jnnp-2019-322168. Epub 2020 Jan 14.

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

Anheim M, Torres Martin JV, Kolb SA.

Cerebellum. 2020 Apr;19(2):243-251. doi: 10.1007/s12311-020-01102-0.

Clinical Reasoning: Immunocompetent patient with multiple cranial nerve palsies, ataxia, and cognitive decline

Nigam M, Wang M, Commander L.

Neurology. 2020 Jan 14;94(2):e225-e229. doi: 10.1212/WNL.0000000000008793.

Ataxia telangiectasia mutated pathway disruption affects hepatic DNA and tissue damage in nonalcoholic fatty liver disease

Viswanathan P, Sharma Y, Maisuradze L, Tchaikovskaya T, Gupta S.

Exp Mol Pathol. 2020 Apr;113:104369. doi: 10.1016/j.yexmp.2020.104369. Epub 2020 Jan 7.

DDIT4 gene expression is switched on by a new HDAC4 function in ataxia telangiectasia

Ricci A, Galluzzi L, Magnani M, Menotta M.

FASEB J. 2020 Jan;34(1):1802-1818. doi: 10.1096/fj.201902039R. Epub 2019 Dec 8.

Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3

Elyoseph Z, Mintz M, Vakil E, Zaltzman R, Gordon CR.

Cerebellum. 2020 Apr;19(2):226-234. doi: 10.1007/s12311-019-01101-w.