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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.

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Ataxia Ataxia 168 artículos Viendo del 1 al 40 de 168 artículos
Pub MED

Editors' note: Cerebello-spinal tDCS in ataxia: A randomized, double-blind, sham-controlled, crossover trial.NUEVO

Lewis A, Galetta S.
Neurology. 2019 Jun 4;92(23):1121. doi: 10.1212/WNL.0000000000007624. No abstract available.
Pub MED

p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia.NUEVO

Helma R, Bažantová P, Petr M, Adámik M, Renčiuk D, Tichý V, Pastuchová A, Soldánová Z, Pečinka P, Bowater RP, Fojta M, Brázdová M.
Molecules. 2019 May 31;24(11). pii: E2078. doi: 10.3390/molecules24112078.
Pub MED

Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.NUEVO

Park JH, Jang W, Youn J, Ki CS, Kim BJ, Kim HT, Louis ED, Cho JW.
Brain Behav. 2019 Jun 3:e01337. doi: 10.1002/brb3.1337. [Epub ahead of print]
Pub MED

Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.NUEVO

Shirafuji T, Shimazaki H, Miyagi T, Ueyama T, Adachi N, Tanaka S, Hide I, Saito N, Sakai N.
Mol Cell Neurosci. 2019 May 31;98:46-53. doi: 10.1016/j.mcn.2019.05.005. [Epub ahead of print]
Pub MED

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.NUEVO

Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G.
PLoS One. 2019 Jun 3;14(6):e0217776. doi: 10.1371/journal.pone.0217776. eCollection 2019.
Pub MED

CNS-Specific Synthesis of Interleukin 23 Induces a Progressive Cerebellar Ataxia and the Accumulation of Both T and B Cells in the Brain: Characterization of a Novel Transgenic Mouse Model.NUEVO

Nitsch L, Zimmermann J, Krauthausen M, Hofer MJ, Saggu R, Petzold GC, Heneka MT, Getts DR, Becker A, Campbell IL, Müller M.
Mol Neurobiol. 2019 Jun 2. doi: 10.1007/s12035-019-1640-0. [Epub ahead of print]
Pub MED

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?NUEVO

Thomas-Black GJ, Parkinson MH, Bremner F, Giunti P.
Brain. 2019 Jun 1;142(6):e23. doi: 10.1093/brain/awz117. No abstract available.
Pub MED

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.NUEVO

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA.
J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27.
Pub MED

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.NUEVO

Alvarez-Mora MI, Podlesniy P, Gelpi E, Hukema R, Madrigal I, Pagonabarraga J, Trullas R, Mila M, Rodriguez-Revenga L.
Genes Brain Behav. 2019 Jun;18(5):e12565. doi: 10.1111/gbb.12565. Epub 2019 May 24.
Pub MED

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.NUEVO

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W.
Cerebellum. 2019 Jun;18(3):433-434. doi: 10.1007/s12311-019-01021-9.
Pub MED

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.NUEVO

Peluzzo TM, Bonadia LC, Donatti A, Molck MC, Jardim LB, Marques W Jr, Lopes-Cendes IT, França MC Jr.
Cerebellum. 2019 Jun 26. doi: 10.1007/s12311-019-01055-z. [Epub ahead of print]
Pub MED

Ataxic phenotype with altered Ca(V)3.1 channel property in a mouse model for spinocerebellar ataxia 42.NUEVO

Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, et al.
Neurobiol Dis. 2019 Jun 20:104516. doi: 10.1016/j.nbd.2019.104516. [Epub ahead of print]
Pub MED

Spinocerebellar Ataxia Type 2 - Neuronopathy or Neuropathy?NUEVO

Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L.
Muscle Nerve. 2019 Jun 22. doi: 10.1002/mus.26613. [Epub ahead of print]
Pub MED

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.NUEVO

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, Bellescize J, Ville D, Lesca G, Korff CM.
Neuropediatrics. 2019 Jun 21. doi: 10.1055/s-0039-1688410. [Epub ahead of print]
Pub MED

Long Term Follow up of Cerebellar Ataxia CA) and MRI Lesions Which Responded to Copper (Cu) Supplementation (P12-055-19).NUEVO

Rothkopf M, Venkatraman G.
Curr Dev Nutr. 2019 Jun 13;3(Suppl 1). pii: nzz035.P12-055-19. doi: 10.1093/cdn/nzz035.P12-055-19. eCollection 2019 Jun.
Pub MED

Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.NUEVO

Sayan S, Kotan D, Gündoğdu-Eken A, Şahbaz I, Koçoğlu C, Başak AN.
Noro Psikiyatr Ars. 2018 Jul 11;56(2):106-109. doi: 10.5152/npa.2017.20525. eCollection 2019 Jun.
Pub MED

Sensory ataxia rating scale (SEARS): development and validation of a functional scale for patients with sensory neuronopathies.NUEVO

Martinez ARM, Martins MP, Martins CR Jr, Faber I, de Rezende TJR, Nucci A, França MC Jr.
J Peripher Nerv Syst. 2019 Jun 20. doi: 10.1111/jns.12330. [Epub ahead of print]
Pub MED

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.NUEVO

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, et al.
Mov Disord. 2019 Jun 18. doi: 10.1002/mds.27739. [Epub ahead of print]
Pub MED

Open label Pilot Study of Oral Methylprednisolone for the Treatment of Patients with Friedreich Ataxia.NUEVO

Patel M, Schadt K, McCormick A, Isaacs C, Dong YN, Lynch DR.
Muscle Nerve. 2019 Jun 17. doi: 10.1002/mus.26610. [Epub ahead of print]
Pub MED

Development of an Immunohistochemical Assay to Detect the Ataxia-Telangiectasia Mutated (ATM) Protein in Gastric Carcinoma.NUEVO

Miller RM, Nworu C, McKee L, Balcerzak D, Pham L, Pugh J, Liu YZ, Gustafson H, Marwah E, Lamb T, Clements J.
Appl Immunohistochem Mol Morphol. 2019 Jun 14. doi: 10.1097/PAI.0000000000000786. [Epub ahead of print]
Pub MED

Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.NUEVO

Nóbrega C, Mendonça L, Marcelo A, Lamazière A, Tomé S, Despres G, Matos CA, Mechmet F, Langui D, den Dunnen W, de Almeida LP, Cartier N, Alves S.
Acta Neuropathol. 2019 Jun 14. doi: 10.1007/s00401-019-02019-7. [Epub ahead of print]
Pub MED

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.NUEVO

Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X.
Neurology. 2019 Jun 13. pii: 10.1212/WNL.0000000000007750. doi: 10.1212/WNL.0000000000007750. [Epub ahead of print]
Pub MED

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.NUEVO

Rossi J, Cavallieri F, Giovannini G, Budriesi C, Gessani A, Carecchio M, Di Bella D, Sarto E, Mandrioli J, Contardi S, Meletti S.
Neurogenetics. 2019 Jun 13. doi: 10.1007/s10048-019-00580-7. [Epub ahead of print]
Pub MED

Spinocerebellar ataxia with axonal neuropathy type 1 revisited.NUEVO

Scott P, Al Kindi A, Al Fahdi A, Al Yarubi N, Bruwer Z, Al Adawi S, Nandhagopal R.
J Clin Neurosci. 2019 Jun 7. pii: S0967-5868(19)30238-3. doi: 10.1016/j.jocn.2019.05.060. [Epub ahead of print]
Pub MED

Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia.NUEVO

Weihua Z, Haitao R, Fang F, Xunzhe Y, Jing W, Hongzhi G.
Cerebellum. 2019 Jun 10. doi: 10.1007/s12311-019-01048-y. [Epub ahead of print]
Pub MED

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.NUEVO

Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, Tsuji S.
Intern Med. 2019 Jun 7. doi: 10.2169/internalmedicine.2953-19. [Epub ahead of print]
Pub MED

A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).NUEVO

Mishra SK, Khosa S, Trikamji B, Khanli HM, Scheuner MT, Jamal NI, Hanssen AM.
J Clin Neurosci. 2019 Jun 6. pii: S0967-5868(19)30589-2. doi: 10.1016/j.jocn.2019.05.044. [Epub ahead of print]
Pub MED

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.NUEVO

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.
J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.
Pub MED

Pearls & Oy-sters: Paroxysmal dysarthria-ataxia syndrome: Acoustic analysis in a case of antiphospholipid syndrome.NUEVO

Gessani A, Cavallieri F, Budriesi C, Zucchi E, Malagoli M, Contardi S, Mascia MT, Giovannini G, Mandrioli J.
Neurology. 2019 Jun 4;92(23):e2727-e2731. doi: 10.1212/WNL.0000000000007619. No abstract available.
Pub MED

Author response: Cerebello-spinal tDCS in ataxia: A randomized, double-blind, sham-controlled, crossover trial.NUEVO

Benussi A, Borroni B.
Neurology. 2019 Jun 4;92(23):1122. doi: 10.1212/WNL.0000000000007625. No abstract available.
Pub MED

Reader response: Cerebello-spinal tDCS in ataxia: A randomized, double-blind, sham-controlled, crossover trial.NUEVO

Matsugi A.
Neurology. 2019 Jun 4;92(23):1121. doi: 10.1212/WNL.0000000000007623. No abstract available.
Pub MED

Rational Design of 5-(4-(Isopropylsulfonyl)phenyl)-3-(3-(4-((methylamino)methyl)phenyl)isoxazol-5-yl)pyrazin-2-amine (VX-970, M6620): Optimization of Intra- and Intermolecular Polar Interactions of a New Ataxia Telangiectasia Mutated and Rad3-Related (ATR) Kinase Inhibitor.NUEVO

Knegtel R, Charrier JD, Durrant S, Davis C, O'Donnell M, Storck P, MacCormick S, Kay D, Pinder J, Virani A, Twin H, Griffiths M, Reaper P, Littlewood P, Young S, Golec J, Pollard J.
J Med Chem. 2019 May 16. doi: 10.1021/acs.jmedchem.9b00426. [Epub ahead of print]
Pub MED

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.NUEVO

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, et al.
Neurology. 2019 May 8. pii: 10.1212/WNL.0000000000007606. doi: 10.1212/WNL.0000000000007606. [Epub ahead of print]
Pub MED

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.NUEVO

Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G.
Clin Genet. 2019 May 8. doi: 10.1111/cge.13562. [Epub ahead of print]
Pub MED

ACR Appropriateness Criteria(®) Ataxia.NUEVO

Expert Panel on Neurologic Imaging:., Juliano AF, Policeni B, Agarwal V, Burns J, Bykowski J, Harvey HB, Hoang JK, Hunt CH, Kennedy TA, Moonis G, Pannell JS, Parsons MS, Powers WJ, Rosenow JM, Schroeder JW, Slavin K, Whitehead MT, Corey AS.
J Am Coll Radiol. 2019 May;16(5S):S44-S56. doi: 10.1016/j.jacr.2019.02.021.
Pub MED

Functional classification of ATM variants in ataxia-telangiectasia patients.NUEVO

Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, et al.
Hum Mutat. 2019 May 3. doi: 10.1002/humu.23778. [Epub ahead of print]
Pub MED

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.NUEVO

Gama MTD, Braga-Neto P, Dutra LA, Alessi H, Maria LA, Gadelha AA, Ortiz BB, Kunii I, Correia-Silva SR, Dias da Silva MR, Dion PA, Rouleau GA, França MC Jr, Barsottini OGP, Pedroso JL.
Cerebellum. 2019 May 2. doi: 10.1007/s12311-019-01033-5. [Epub ahead of print]
Pub MED

Diagnosis and management of progressive ataxia in adults.NUEVO

de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M.
Pract Neurol. 2019 Jun;19(3):196-207. doi: 10.1136/practneurol-2018-002096. Epub 2019 May 2. Review.
Pub MED

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.NUEVO

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, et al.
Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.
Pub MED

Does integrated cognitive and balance (dual-task) training improve balance and reduce falls risk in individuals with cerebellar ataxia?NUEVO

Winser S, Pang MYC, Rauszen JS, Chan AYY, Chen CH, Whitney SL.
Med Hypotheses. 2019 May;126:149-153. doi: 10.1016/j.mehy.2019.03.001. Epub 2019 Mar 5.
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