Bibliografía científicaBibliografía científica

En esta sección encontrará una selección de las publicaciones científicas sobre los Trastornos del Movimiento para los 11 diferentes tipos establecidos por la International Parkinson & Movement Disorder Society. Se han seleccionado sólo aquellas publicaciones que presenten el término de búsqueda en el título (inglés).

Los artículos presentados incluyen aquellos publicados desde enero de 2010. El listado de publicaciones de actualizará mensualmente. Si lo desea, puede recibir una alerta de la actualización por correo electrónico. Para ello ha de registrarse.

Búsqueda
Ataxia Ataxia 105 artículos Viendo del 1 al 40 de 105 artículos
Pub MED

Progress in the treatment of Friedreich ataxia.NUEVO

Tai G, Corben LA, Yiu EM, Milne SC, Delatycki MB.
Neurol Neurochir Pol. 2018 Mar;52(2):129-139. doi: 10.1016/j.pjnns.2018.02.003. Epub 2018 Feb 19. Review.
Pub MED

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.NUEVO

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A.
J Hum Genet. 2018 Feb 28. doi: 10.1038/s10038-018-0421-3. [Epub ahead of print]
Pub MED

The Differential Diagnosis of Acute Onset Truncal Ataxia: The Importance of Dysgeusia in Miller Fisher Syndrome.NUEVO

Ueno T, Kimura R, Kon T, Haga R, Nishijima H, Nunomura JI, Tomiyama M.
Intern Med. 2018 Feb 28. doi: 10.2169/internalmedicine.0313-17. [Epub ahead of print]
Pub MED

8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.NUEVO

Fu X, Karimov C, Randolph LM, Russi AS.
Clin Chem. 2018 Mar;64(3):611-613. doi: 10.1373/clinchem.2017.277954. No abstract available.
Pub MED

Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.NUEVO

Cirillo E, Del Giudice E, Micheli R, Cappellari AM, Soresina A, Dellepiane RM, Pietrogrande MC, Dell'Era L, Specchia F, Pession A, Plebani A, Pignata C.
Eur J Neurol. 2018 Feb 28. doi: 10.1111/ene.13606. [Epub ahead of print]
Pub MED

Ataxia With Hypodontia: A Unique Leukodystrophy.NUEVO

Currie AD, Karmarkar SA.
Pediatr Neurol. 2018 Mar;80:94-95. doi: 10.1016/j.pediatrneurol.2017.06.013. Epub 2017 Dec 27. No abstract available.
Pub MED

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.NUEVO

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, et al.
Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.
Pub MED

Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study.NUEVO

Velázquez-Pérez L, Rodríguez-Labrada R, Torres-Vega R, Ortega-Sánchez R, Medrano-Montero J, González-Piña R, Vázquez-Mojena Y, Auburger G, Ziemann U.
Clin Neurophysiol. 2018 May;129(5):895-900. doi: 10.1016/j.clinph.2018.01.066. Epub 2018 Mar 15.
Pub MED

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.NUEVO

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.
Hum Mol Genet. 2018 Mar 14. doi: 10.1093/hmg/ddy096. [Epub ahead of print]
Pub MED

Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.NUEVO

Kemp KC, Hares K, Redondo J, Cook AJ, Haynes HR, Burton BR, Pook MA, Rice CM, Scolding NJ, Wilkins A.
Ann Neurol. 2018 Mar 13. doi: 10.1002/ana.25207. [Epub ahead of print]
Pub MED

Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1.NUEVO

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]
Pub MED

A rare cause of chronic ataxia in childhood: ganglioneuroma.NUEVO

Arslan EA, Kamaşak T, Turgut BD, Saygın İ, Sarıhan H, Cansu A.
World J Pediatr. 2018 Mar 12. doi: 10.1007/s12519-018-0141-y. [Epub ahead of print] No abstract available.
Pub MED

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

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.
Pub MED

Clinical Reasoning: A 52-year-old woman with 3 weeks of progressive gait ataxia and dysarthria.NUEVO

Lu C, Velickovic Ostojic L, Lemus HN.
Neurology. 2018 Mar 13;90(11):e985-e989. doi: 10.1212/WNL.0000000000005122. No abstract available.
Pub MED

Pitfalls in molecular diagnosis of Friedreich ataxia.NUEVO

Barcia G, Rachid M, Magen M, Assouline Z, Koenig M, Funalot B, Barnerias C, Rötig A, Munnich A, Bonnefont JP, Steffann J.
Eur J Med Genet. 2018 Mar 9. pii: S1769-7212(17)30737-1. doi: 10.1016/j.ejmg.2018.03.004. [Epub ahead of print]
Pub MED

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.NUEVO

Paucar M, Bergendal Å, Gustavsson P, Nordenskjöld M, Laffita-Mesa J, Savitcheva I, Svenningsson P.
Cerebellum. 2018 Mar 12. doi: 10.1007/s12311-018-0927-4. [Epub ahead of print]
Pub MED

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.NUEVO

Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT.
Neuron. 2018 Mar 21;97(6):1235-1243.e5. doi: 10.1016/j.neuron.2018.02.013. Epub 2018 Mar 8.
Pub MED

Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.NUEVO

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, Pallardó FV, García-Giménez JL.
Sci Data. 2018 Mar 6;5:180021. doi: 10.1038/sdata.2018.21.
Pub MED

Nuclear factor-like factor 2-antioxidant activation through the action of ataxia telangiectasia-mutated serine/threonine kinase is essential to counteract oxidative stress in bovine mammary epithelial cells.NUEVO

Ma YF, Wu ZH, Gao M, Loor JJ.
J Dairy Sci. 2018 Mar 28. pii: S0022-0302(18)30288-1. doi: 10.3168/jds.2017-13954. [Epub ahead of print]
Pub MED

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

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, Burmeister M.
Ann Neurol. 2018 Mar 31. doi: 10.1002/ana.25220. [Epub ahead of print]
Pub MED

Effects of dance-based movement therapy on balance, gait, and psychological functions in severe cerebellar ataxia: A case study.NUEVO

Song YG, Ryu YU, Im SJ, Lee YS, Park JH.
Physiother Theory Pract. 2018 Mar 30:1-8. doi: 10.1080/09593985.2018.1457119. [Epub ahead of print]
Pub MED

Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.NUEVO

Leuzzi V, D'Agnano D, Menotta M, Caputi C, Chessa L, Magnani M.
Neurol Genet. 2018 Mar 27;4(2):e228. doi: 10.1212/NXG.0000000000000228. eCollection 2018 Apr.
Pub MED

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).NUEVO

Velasco H, Ramírez-Montaño D.
Front Genet. 2018 Mar 14;9:86. doi: 10.3389/fgene.2018.00086. eCollection 2018.
Pub MED

Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?NUEVO

Zaki-Dizaji M, Akrami SM, Azizi G, Abolhassani H, Aghamohammadi A.
Inflamm Res. 2018 Mar 26. doi: 10.1007/s00011-018-1142-y. [Epub ahead of print] Review.
Pub MED

Neuroprotective effects of creatine in the CMVMJD135 mouse model of spinocerebellar ataxia type 3.NUEVO

Duarte-Silva S, Neves-Carvalho A, Soares-Cunha C, Silva JM, Teixeira-Castro A, Vieira R, Silva-Fernandes A, Maciel P.
Mov Disord. 2018 Mar 23. doi: 10.1002/mds.27292. [Epub ahead of print]
Pub MED

Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia.NUEVO

Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB.
Sci Rep. 2018 Mar 22;8(1):5007. doi: 10.1038/s41598-018-23168-x.
Pub MED

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.NUEVO

Origone P, Gotta F, Lamp M, Trevisan L, Geroldi A, Massucco D, Grazzini M, Massa F, Ticconi F, Bauckneht M, Marchese R, Abbruzzese G, Bellone E, Mandich P.
Cerebellum Ataxias. 2018 Mar 14;5:7. doi: 10.1186/s40673-018-0086-x. eCollection 2018.
Pub MED

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia.NUEVO

Edenharter O, Schneuwly S, Navarro JA.
Front Mol Neurosci. 2018 Mar 6;11:38. doi: 10.3389/fnmol.2018.00038. eCollection 2018.
Pub MED

Targeting potassium channels to treat cerebellar ataxia.NUEVO

Bushart DD, Chopra R, Singh V, Murphy GG, Wulff H, Shakkottai VG.
Ann Clin Transl Neurol. 2018 Jan 22;5(3):297-314. doi: 10.1002/acn3.527. eCollection 2018 Mar.
Pub MED

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.
Pub MED

Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.

De Munter S, Bamps D, Malheiro AR, Kumar Baboota R, Brites P, Baes M.
Brain Pathol. 2018 Jan 17. doi: 10.1111/bpa.12586. [Epub ahead of print]
Pub MED

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.

Costabile T, Capretti V, Abate F, Liguori A, Paciello F, Pane C, De Rosa A, Peluso S, De Michele G, Filla A, Saccà F.
Cerebellum. 2018 Jan 11. doi: 10.1007/s12311-018-0918-5. [Epub ahead of print]
Pub MED

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

Pelosi L, Mulroy E, Leadbetter R, Kilfoyle D, Chancellor AM, Mossman S, Wing L, Wu TY, Roxburgh RH.
Eur J Neurol. 2018 Jan 5. doi: 10.1111/ene.13563. [Epub ahead of print]
Pub MED

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A.
Eur J Paediatr Neurol. 2018 Jan;22(1):93-101. doi: 10.1016/j.ejpn.2017.09.004. Epub 2017 Sep 15.
Pub MED

Impaired peripheral reaching and on-line corrections in patient DF: Optic ataxia with visual form agnosia.

Rossit S, Harvey M, Butler SH, Szymanek L, Morand S, Monaco S, McIntosh RD.
Cortex. 2018 Jan;98:84-101. doi: 10.1016/j.cortex.2017.04.004. Epub 2017 Apr 22.
Pub MED

Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).

Lima M, Raposo M.
Adv Exp Med Biol. 2018;1049:309-319. doi: 10.1007/978-3-319-71779-1_16.
Pub MED

Spinocerebellar Ataxia Type 17 (SCA17).

Toyoshima Y, Takahashi H.
Adv Exp Med Biol. 2018;1049:219-231. doi: 10.1007/978-3-319-71779-1_10.
Pub MED

Spinocerebellar Ataxia Type 2.

Scoles DR, Pulst SM.
Adv Exp Med Biol. 2018;1049:175-195. doi: 10.1007/978-3-319-71779-1_8.
Pub MED

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.
Pub MED

Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502).

Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR.
Dis Model Mech. 2018 Jan 29;11(1). pii: dmm033415. doi: 10.1242/dmm.033415. No abstract available.
Viendo del 1 al 40 de 105 artículos
Con el aval de:

Sociedad Española de Neurología

Sociedad Española
de Neurología
En colaboración con:

Zambon

Haga click en el logo para acceder
a información acerca de Zambon
NeuroAcademy
Utilizamos cookies propias y de terceros para identificar la sesión del usuario y mejorar nuestros servicios mediante el análisis de sus hábitos de navegación. Si continúa navegando por el sitio web manifiesta consentir su instalación y uso conforme lo anterior. Puede cambiar la configuración y obtener más información aquí.