Artículos por temáticas

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports.

Li Y, Chang Y, Liu X, Li Y, Yan Y.

Medicine (Baltimore). 2019 Nov;98(46):e17834. doi: 10.1097/MD.0000000000017834.

Motor Function Improvement in Children with Ataxia Receiving Interval Rehabilitation, Including Vibration-Assisted Hometraining: A Retrospective Study.

Martakis K, Stark C, Alberg E, Bossier C, Semler O, Schönau E, Duran I.

Klin Padiatr. 2019 Nov;231(6):304-312. doi: 10.1055/a-1001-2284. Epub 2019 Nov 13.

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.

Peverill RE, Romanelli G, Donelan L, Hassam R, Corben LA, Delatycki MB.

PLoS One. 2019 Nov 13;14(11):e0225147. doi: 10.1371/journal.pone.0225147. eCollection 2019.

Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Rea G, Tirupathi S, Williams J, Clouston P, Morrison PJ.

Cerebellum. 2020 Feb;19(1):161-163. doi: 10.1007/s12311-019-01085-7.

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective

Schoenaker MHD, Blom M, de Vries MC, Weemaes CMR, van der Burg M, Willemsen MAAP.

Eur J Pediatr. 2020 Feb;179(2):251-256. doi: 10.1007/s00431-019-03479-5. Epub 2019 Nov 11.

Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy

Kuo ME, Antonellis A, Shakkottai VG.

Cerebellum. 2020 Feb;19(1):154-160. doi: 10.1007/s12311-019-01080-y.

Transient mutism, pathological laughter and cerebellar ataxia after primary varicella-zoster virus infection.

Brito T, Oliveira I, Silva L, Parente S.

BMJ Case Rep. 2019 Nov 7;12(11). pii: e230683. doi: 10.1136/bcr-2019-230683.

Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy

Schirinzi T, Sancesario A, Bertini E, Castelli E, Vasco G.

Cerebellum. 2020 Feb;19(1):126-130. doi: 10.1007/s12311-019-01084-8.

Female sexual dysfunction associated with idiopathic cerebellar ataxia: A case report.

López-Sosa C, Gámez-Zapata J, Iglesias-de-Sena H, Alonso-Sardón M.

BMC Womens Health. 2019 Nov 7;19(1):133. doi: 10.1186/s12905-019-0833-z.

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

Richmond CM, Leventer R, Ryan MM, Delatycki MB.

Clin Genet. 2020 Mar;97(3):516-520. doi: 10.1111/cge.13666. Epub 2019 Nov 14.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwin

Hum Mutat. 2020 Feb;41(2):487-501. doi: 10.1002/humu.23946. Epub 2019 Nov 25.

From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation.

Da Silva JD, Teixeira-Castro A, Maciel P.

Neurotherapeutics. 2019 Nov 5. doi: 10.1007/s13311-019-00798-1. [Epub ahead of print] Review.

Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3.

Li QF, Dong Y, Yang L, Xie JJ, Ma Y, Du YC, Cheng HL, Ni W, Wu ZY.

Mol Neurodegener. 2019 Nov 4;14(1):39. doi: 10.1186/s13024-019-0338-0.

Generation of induced pluripotent stem cell line (ZZUi0014-A) from a patient with spinocerebellar ataxia type 3.

Wang Y, Sun H, Wang Z, Yue Y, Zhang R, Yang J, Liu Y, Liu H, Zhang Q, Zhang S, Zhang J, Xu Y, Shi C.

Stem Cell Res. 2019 Dec;41:101564. doi: 10.1016/j.scr.2019.101564. Epub 2019 Aug 29.

Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.

Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miya

Pediatr Neurol. 2019 Nov;100:60-66. doi: 10.1016/j.pediatrneurol.2019.05.006. Epub 2019 May 13.