Artículos por temáticas

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Kalikavil Puthanveedu D, Cherian A, Mukerji M, Srivastava AK, Faruq M.

Clin Genet. 2019 Aug 20. doi: 10.1111/cge.13625. [Epub ahead of print]

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.

Lai KL, Liao YC, Tsai PC, Hsiao CT, Soong BW, Lee YC.

Parkinsonism Relat Disord. 2019 Aug 7. pii: S1353-8020(19)30360-8. doi: 10.1016/j.parkreldis.2019.08.004. [Epub ahead of print]

Hyponatraemia presenting as reversible cerebellar ataxia in Addison's disease.

Arul JN, Rajkumar M, Suja L.

BMJ Case Rep. 2019 Aug 15;12(8). pii: e227933. doi: 10.1136/bcr-2018-227933.

Is Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy?

Yacovino DA, Zanotti E, Hain TC.

J Int Adv Otol. 2019 Aug;15(2):304-308. doi: 10.5152/iao.2019.7068.

Event-Related Desynchronization/Synchronization in Spinocerebellar Ataxia Type 3.

Aoh Y, Hsiao HJ, Lu MK, Macerollo A, Huang HC, Hamada M, Tsai CH, Chen JC.

Front Neurol. 2019 Jul 31;10:822. doi: 10.3389/fneur.2019.00822. eCollection 2019.

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.

La Rosa P, Russo M, D'Amico J, Petrillo S, Aquilano K, Lettieri-Barbato D, Turchi R, Bertini ES, Piemonte F.

Front Cell Neurosci. 2019 Jul 31;13:356. doi: 10.3389/fncel.2019.00356. eCollection 2019.

Measuring peripheral nerve involvement in Friedreich's ataxia.

Creigh PD, Mountain J, Sowden JE, Eichinger K, Ravina B, Larkindale J, Herrmann DN.

Ann Clin Transl Neurol. 2019 Aug 15. doi: 10.1002/acn3.50865. [Epub ahead of print]

Case report: immune-mediated cerebellar ataxia secondary to anti-PD-L1 treatment for lung cancer.

Tan YY, Rannikmäe K, Steele N.

Int J Neurosci. 2019 Aug 28:1-3. doi: 10.1080/00207454.2019.1655013. [Epub ahead of print]

VEMPs and Dysautonomia Assessment in Definite Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Case Series Study.

Moreno-Ajona D, Álvarez-Gómez L, Manrique-Huarte R, Rivas E, Martínez-Vila E, Pérez-Fernández N.

Cerebellum. 2019 Aug 15. doi: 10.1007/s12311-019-01061-1. [Epub ahead of print]

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M.

Neurol Genet. 2019 Jun 25;5(4):e346. doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug. No abstract available.

Assessment of vitamin D status in common variable immunodeficiency or ataxia-telangiectasia patients.

Cruz JRS, Silva R, Andrade IGA, Fonseca FLA, Costa-Carvalho BT, Sarni ROS.

Allergol Immunopathol (Madr). 2019 Sep - Oct;47(5):499-505. doi: 10.1016/j.aller.2019.03.004. Epub 2019 Jul 31.

Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line.

Moore LR, Keller L, Bushart DD, Delatorre RG, Li D, McLoughlin HS, do Carmo Costa M, Shakkottai VG, Smith GD, Paulson HL.

Stem Cell Res. 2019 Aug;39:101504. doi: 10.1016/j.scr.2019.101504. Epub 2019 Jul 16.

Brainstem lesion causing paroxysmal ataxia, dysarthria, diplopia and hemifacial spasm (PADDHS).

Ferrante E, Marazzi MR, Trimboli M, Dalla Costa D, Erminio C, Nobili L.

Epileptic Disord. 2019 Aug 1;21(4):389-390. doi: 10.1684/epd.2019.1080. No abstract available.

Cerebellar contribution to auditory feedback control of speech production: Evidence from patients with spinocerebellar ataxia.

Li W, Zhuang J, Guo Z, Jones JA, Xu Z, Liu H.

Hum Brain Mapp. 2019 Jul 31. doi: 10.1002/hbm.24734. [Epub ahead of print]

Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India.

Muthusamy K, Thomas M, Yoganathan S, Sudhakar SV.

Ann Indian Acad Neurol. 2019 Jul-Sep;22(3):295-301. doi: 10.4103/aian.AIAN_101_18.