Artículos por temáticas

Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1.

Deelchand DK, Joers JM, Ravishankar A, Lyu T, Emir UE, Hutter D, Gomez CM, Bushara KO, Lenglet C, Eberly LE, Öz G.

Mov Disord Clin Pract. 2019 Jul 10;6(7):549-558. doi: 10.1002/mdc3.12804. eCollection 2019 Sep.

Update on intensive motor training in spinocerebellar ataxia: time to move a step forward?

Lanza G, Casabona JA, Bellomo M, Cantone M, Fisicaro F, Bella R, Pennisi G, Bramanti P, Pennisi M, Bramanti A.

J Int Med Res. 2019 Sep 20:300060519854626. doi: 10.1177/0300060519854626. [Epub ahead of print] No abstract available.

Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.

Neurology. 2019 Sep 18. pii: 10.1212/WNL.0000000000008313. doi: 10.1212/WNL.0000000000008313. [Epub ahead of print]

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

Lawerman TF, Brandsma R, Maurits NM, Martinez-Manzanera O, Verschuuren-Bemelmans CC, Lunsing RJ, Brouwer OF, Kremer HP, Sival DA.

Dev Med Child Neurol. 2020 Jan;62(1):75-82. doi: 10.1111/dmcn.14355. Epub 2019 Sep 17.

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Vedartham V, Sundaram S, Nair SS, Ganapathy A, Mannan A, Menon R.

Ophthalmic Genet. 2019 Sep 16:1-4. doi: 10.1080/13816810.2019.1666414. [Epub ahead of print]

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population.

Chen SJ, Lee NC, Chien YH, Hwu WL, Lin CH.

Brain Behav. 2019 Sep 16:e01414. doi: 10.1002/brb3.1414. [Epub ahead of print]

Molecular spectrum and allelic frequency of different subtypes (1, 2, 3, 6 and 7) of Spinocerebellar ataxia in the Indian population.

Vishwakarma P, Agarwal S.

Intractable Rare Dis Res. 2019 Aug;8(3):193-197. doi: 10.5582/irdr.2019.01063.

Ataxia-telangiectasia mutated is required for the development of protective immune memory after influenza A virus infection.

Warren R, Domm W, Yee M, Campbell A, Malone J, Wright T, Mayer-Proschel M, O'Reilly MA.

Am J Physiol Lung Cell Mol Physiol. 2019 Sep 11. doi: 10.1152/ajplung.00031.2019. [Epub ahead of print]

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E,

Version 2. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17.

Xenografting of human umbilical mesenchymal stem cells from Wharton's jelly ameliorates mouse spinocerebellar ataxia type 1.

Tsai PJ, Yeh CC, Huang WJ, Min MY, Huang TH, Ko TL, Huang PY, Chen TH, Hsu SPC, Soong BW, Fu YS.

Transl Neurodegener. 2019 Sep 5;8:29. doi: 10.1186/s40035-019-0166-8. eCollection 2019.

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.

Friedreich ataxia- pathogenesis and implications for therapies.

Delatycki MB, Bidichandani SI.

Neurobiol Dis. 2019 Sep 5:104606. doi: 10.1016/j.nbd.2019.104606. [Epub ahead of print] Review.

Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3.

He L, Ye W, Chen Z, Wang C, Zhao H, Li S, Peng L, Han X, Zhou T, Li Z, Tang B, Jiang H.

Stem Cell Res. 2019 Aug 27;40:101555. doi: 10.1016/j.scr.2019.101555. [Epub ahead of print]

Combined poly-ADP ribose polymerase and ataxia-telangiectasia mutated/Rad3-related inhibition targets ataxia-telangiectasia mutated-deficient lung cancer cells.

Jette NR, Radhamani S, Arthur G, Ye R, Goutam S, Bolyos A, Petersen LF, Bose P, Bebb DG, Lees-Miller SP.

Br J Cancer. 2019 Sep 4. doi: 10.1038/s41416-019-0565-8. [Epub ahead of print]

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de

Eur J Paediatr Neurol. 2019 Aug 10. pii: S1090-3798(19)30027-3. doi: 10.1016/j.ejpn.2019.08.004. [Epub ahead of print]