Artículos por temáticas

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

Fazeli W, Becker K, Herkenrath P, Düchting C, Körber F, Landgraf P, Nürnberg P, Altmüller J, Thiele H, Koy A, Liebau MC, Simon T, Dötsch J, Cirak S.

Neuropediatrics. 2018 Aug 30. doi: 10.1055/s-0038-1668141. [Epub ahead of print]

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S.

Genet Med. 2018 Jun 18. doi: 10.1038/s41436-018-0007-7. [Epub ahead of print]

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.

Weissfeld T, Ratliff J.

J Clin Neurosci. 2018 May 3. pii: S0967-5868(18)30400-4. doi: 10.1016/j.jocn.2018.04.043. [Epub ahead of print]

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 Apr 5;29:125-128. doi: 10.1016/j.scr.2018.03.018. [Epub ahead of print]

The Identification of Potent, Selective and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2H-pyran-4-yl)-1,3-dihydro-2H-imidazo[4,5-c]quinolin-2-one).

Pike KG, Barlaam B, Cadogan E, Campbell A, Chen Y, Colclough N, Davies NL, DeAlmeida C, Degorce SL, Didelot M, Dishington A, Ducray R, Durant ST, Hassall LA, Holmes JL, Hughes GD, MacFaul PA, Mulholla

J Med Chem. 2018 Apr 23. doi: 10.1021/acs.jmedchem.7b01896. [Epub ahead of print]

Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1.

Edamakanti CR, Do J, Didonna A, Martina M, Opal P.

J Clin Invest. 2018 Mar 13. pii: 96765. doi: 10.1172/JCI96765. [Epub ahead of print]

Neuronal activity and outcomes from thalamic surgery for spinocerebellar ataxia.

Hashimoto T, Muralidharan A, Yoshida K, Goto T, Yako T, Baker KB, Vitek JL.

Ann Clin Transl Neurol. 2017 Dec 10;5(1):52-63. doi: 10.1002/acn3.508. eCollection 2018 Jan.

Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies.

Pérez Ortiz JM, Orr HT.

Adv Exp Med Biol. 2018;1049:135-145. doi: 10.1007/978-3-319-71779-1_6.

Spinocerebellum Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics.

Du X, Gomez CM.

Adv Exp Med Biol. 2018;1049:147-173. doi: 10.1007/978-3-319-71779-1_7.

A neurologist and ataxia: using eye movements to learn about the cerebellum.

Zee DS.

Cerebellum Ataxias. 2018 Feb 7;5:2. doi: 10.1186/s40673-018-0081-2. eCollection 2018. Review.

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.

Hamzeiy H, Savaş D, Tunca C, Şen NE, Gündoğdu Eken A, Şahbaz I, Calini D, Tiloca C, Ticozzi N, Ratti A, Silani V, Başak AN.

Neurodegener Dis. 2018 Feb 9;18(1):38-48. doi: 10.1159/000486201. [Epub ahead of print]

Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

Egidi A, Filippi S, Manganello F, Lopez-Martinez W, Meschini R.

Mutat Res. 2018 Dec;836(Pt A):109-116. doi: 10.1016/j.mrgentox.2018.06.016. Epub 2018 Jun 15.

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.

Eur J Med Genet. 2018 Dec 17. pii: S1769-7212(18)30416-6. doi: 10.1016/j.ejmg.2018.12.010. [Epub ahead of print]

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.

Ida CM, Lundquist PA, Weck K, Highsmith WE Jr.

Arch Pathol Lab Med. 2018 Nov 1. doi: 10.5858/arpa.2017-0566-OA. [Epub ahead of print]