Artículos por temáticas

SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P.

Hum Mol Genet. 2018 Apr 9. doi: 10.1093/hmg/ddy101. [Epub ahead of print]

Cerebellar transcranial magnetic stimulation facilitates excitability of spinal reflex, but does not affect cerebellar inhibition and facilitation in spinocerebellar ataxia.

Matsugi A, Kikuchi Y, Kaneko K, Seko Y, Odagaki M.

Neuroreport. 2018 Apr 13. doi: 10.1097/WNR.0000000000001036. [Epub ahead of print]

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Alsahli S, Alrifai MT, Al Tala S, Mutairi FA, Alfadhel M.

J Cent Nerv Syst Dis. 2018 Feb 28;10:1179573518759682. doi: 10.1177/1179573518759682. eCollection 2018.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins C, Lohmann K, van de Warrenburg BP

Ann Neurol. 2018 Mar 31. doi: 10.1002/ana.25220. [Epub ahead of print]

Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Wagner F, Titelbaum DS, Engisch R, Coskun EK, Waugh JL.

Clin Neuroradiol. 2018 Jan 29. doi: 10.1007/s00062-018-0665-5. [Epub ahead of print]

[A case of chronic progressive neuro-Behcet's disease with cerebellar ataxia and bulbar palsy preceding mucocutaneo-ocular symptoms].

Watanabe M, Kobayashi R, Hasegawa T, Yokoi S, Okada H, Okuda S.

Rinsho Shinkeigaku. 2018 Jan 31. doi: 10.5692/clinicalneurol.cn-001088. [Epub ahead of print] Japanese.

Spinocerebellar Ataxia Type 31 with Blepharospasm.

Itaya S, Kobayashi Z, Ozaki K, Sato N, Numasawa Y, Ishikawa K, Yokota T, Matsuda H, Shintani S.

Intern Med. 2018 Feb 9. doi: 10.2169/internalmedicine.0068-17. [Epub ahead of print]

Ion channel dysfunction in cerebellar ataxia.

Bushart DD, Shakkottai VG.

Neurosci Lett. 2018 Feb 5. pii: S0304-3940(18)30081-8. doi: 10.1016/j.neulet.2018.02.005. [Epub ahead of print] Review.

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

Tatfi M, Hermine O, Suarez F.

Front Immunol. 2019 Jan 4;9:3060. doi: 10.3389/fimmu.2018.03060. eCollection 2018. Review.

Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.

Lai JI, Nachun D, Petrosyan L, Throesch B, Campau E, Gao F, Baldwin KK, Coppola G, Gottesfeld JM, Soragni E.

J Biol Chem. 2018 Dec 14. pii: jbc.RA118.006515. doi: 10.1074/jbc.RA118.006515. [Epub ahead of print]

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torren

Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31.

Immune Mediated Cerebellar Ataxia: An Unknown Manifestation of Graft-versus-Host Disease.

Shargian-Alon L, Raanani P, Rozovski U, Siegal T, Yust-Katz S, Yeshurun M.

Acta Haematol. 2018 Nov 15;141(1):19-22. doi: 10.1159/000494423. [Epub ahead of print]

Spinocerebellar ataxia: an update.

Sullivan R, Yau WY, O'Connor E, Houlden H.

J Neurol. 2018 Oct 3. doi: 10.1007/s00415-018-9076-4. [Epub ahead of print]

Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations.

Balta G, Patiroglu T, Gumruk F.

J Pediatr Hematol Oncol. 2018 Oct 18. doi: 10.1097/MPH.0000000000001336. [Epub ahead of print]

Selective Forces Related to Spinocerebellar Ataxia Type 2.

Sena LS, Castilhos RM, Mattos EP, Furtado GV, Pedroso JL, Barsottini O, de Amorim MMP, Godeiro C, Pereira MLS, Jardim LB.

Cerebellum. 2018 Sep 15. doi: 10.1007/s12311-018-0977-7. [Epub ahead of print]