Artículos por temáticas

Progressive Liver Disease in Patients With Ataxia Telangiectasia.

Donath H, Woelke S, Theis M, Heß U, Knop V, Herrmann E, Krauskopf D, Kieslich M, Schubert R, Zielen S.

Front Pediatr. 2019 Nov 7;7:458. doi: 10.3389/fped.2019.00458. eCollection 2019.

Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein

Ashraf NS, Sutton JR, Yang Y, Ranxhi B, Libohova K, Shaw ED, Barget AJ, Todi SV, Paulson HL, Costa MDC.

Neurobiol Dis. 2020 Apr;137:104697. doi: 10.1016/j.nbd.2019.104697. Epub 2019 Nov 26.

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.

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

Front Immunol. 2019 Nov 6;10:2438. doi: 10.3389/fimmu.2019.02438. eCollection 2019.

Classic ataxia-telangiectasia: the phenotype of long-term survivors

van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP.

J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27.

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma.

Li ST, Zhou Y.

J Int Med Res. 2019 Dec;47(12):6390-6396. doi: 10.1177/0300060519889457. Epub 2019 Nov 27. No abstract available.

Mitochondrial dysfunction in neurons in Friedreich's ataxia

Stepanova A, Magrané J.

Mol Cell Neurosci. 2020 Jan;102:103419. doi: 10.1016/j.mcn.2019.103419. Epub 2019 Nov 23.

Teaching NeuroImages: When MRI is a clue in episodic ataxia.

Dhawan SR, Saini AG, Vyas S, Attri SV.

Neurology. 2019 Nov 26;93(22):e2074-e2075. doi: 10.1212/WNL.0000000000008563. No abstract available.

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature

Amirifar P, Yazdani R, Moeini Shad T, Ghanadan A, Abolhassani H, Lavin M, Sotoudeh S, Aghamohammadi A.

Immunol Invest. 2020 Aug;49(6):597-610. doi: 10.1080/08820139.2019.1692864. Epub 2019 Nov 25.

Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).

Ishikawa K, Nagai Y.

Neurotherapeutics. 2019 Nov 21. doi: 10.1007/s13311-019-00804-6. [Epub ahead of print] Review.

Changes in standing stability with balance-based torso-weighting with cerebellar ataxia: A pilot study

Widener GL, Conley N, Whiteford S, Gee J, Harrell A, Gibson-Horn C, Block V, Allen DD.

Physiother Res Int. 2020 Jan;25(1):e1814. doi: 10.1002/pri.1814. Epub 2019 Nov 20.

Action perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia.

Abdelgabar AR, Suttrup J, Broersen R, Bhandari R, Picard S, Keysers C, De Zeeuw CI, Gazzola V.

Brain. 2019 Dec 1;142(12):3791-3805. doi: 10.1093/brain/awz337.

Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia

Sze SK, Lederman HM, Crawford TO, Wangler MF, Lewis AM, Kastan MB, Dibra HK, Taylor AMR, Wechsler DS.

J Pediatr Hematol Oncol. 2021 Jan;43(1):e138-e140. doi: 10.1097/MPH.0000000000001672.

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

Palvadeau R, Kaya-Güleç ZE, Şimşir G, Vural A, Öztop-Çakmak Ö, Genç G, Aygün MS, Falay O, Başak AN, Ertan S.

Neurogenetics. 2020 Jan;21(1):51-58. doi: 10.1007/s10048-019-00595-0. Epub 2019 Nov 19.

Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.

Goel D, Suroliya V, Shamim U, Mathur A, Faruq M.

eNeurologicalSci. 2019 Oct 24;17:100211. doi: 10.1016/j.ensci.2019.100211. eCollection 2019 Dec.

Epilepsy in spinocerebellar ataxia type 8: a case report.

Swaminathan A.

J Med Case Rep. 2019 Nov 15;13(1):333. doi: 10.1186/s13256-019-2270-x.