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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará la selección de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por International Parkinson & Movement Disorder Society.

Ataxia

408 ARTíCULOS , VIENDO DEL 46 AL 60

PUBMED

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M.

Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461.

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Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

Gan SR, Ni W, Dong Y, Wang N, Wu ZY.

PLoS One. 2015 Aug 12;10(8):e0134405. doi: 10.1371/journal.pone.0134405.

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PUBMED

Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report.

Imamura T, Konno S, Inoue M, Murata M, Nakazora H, Sugimoto H, Fujioka T.

Clin Case Rep. 2015 Jul;3(7):656-9. doi: 10.1002/ccr3.309.

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PUBMED

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection.

Cotticelli MG, Acquaviva F, Xia S, Kaur A, Wang Y, Wilson RB.

J Biomol Screen. 2015 Oct;20(9):1084-90. doi: 10.1177/1087057115600433.

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PUBMED

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S, Ashizawa T.

J Neurol Sci. 2015 Aug 15;355(1-2):3-6. doi: 10.1016/j.jns.2015.05.022. Review.

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PUBMED

A Case of Subacute Ataxia in the Summertime: Tick Paralysis.

Laufer CB, Chiota-McCollum N.

J Gen Intern Med. 2015 Aug;30(8):1225-7. doi: 10.1007/s11606-015-3276-8.

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PUBMED

Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).

Doldur-Balli F, Ozel MN, Gulsuner S, Tekinay AB, Ozcelik T, Konu O, Adams MM.

BMC Neurosci. 2015 Dec 23;16(1):96. doi: 10.1186/s12868-015-0229-4.

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Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study.

Ishibashi K, Miura Y, Ishikawa K, Ishii K, Ishiwata K.

J Neurol Sci. 2015 Aug 15;355(1-2):202-5. doi: 10.1016/j.jns.2015.05.041.

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PUBMED

Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia.

Soragni E, Chou CJ, Rusche JR, Gottesfeld JM.

Front Neurol. 2015 Mar 5;6:44. doi: 10.3389/fneur.2015.00044.

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Quantitative phosphoproteomics of the ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia-mutated and rad3-related (ATR) dependent DNA damage response in Arabidopsis thaliana.

Roitinger E, Hofer M, Köcher T, Pichler P, Novatchkova M, Yang J, Schlögelhofer P, Mechtler K.

Mol Cell Proteomics. 2015 Mar;14(3):556-71. doi: 10.1074/mcp.M114.040352.

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Gluten Sensitivity - A Potentially Reversible Cause of Progressive Cerebellar Ataxia and Myoclonus - A Case Report.

Khwaja GA, Bohra V, Duggal A, Ghuge VV, Chaudhary N.

J Clin Diagn Res. 2015 Nov;9(11):OD07-8. doi: 10.7860/JCDR/2015/13299.6743.

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PUBMED

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G.

Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007.

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PUBMED

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.

Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G.

J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770.

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PUBMED

HIV Presenting as Cerebellar Ataxia.

Agrawal RP, Jain A, Chahar C, Sirohi P, Meel JK, Mathur G.

J Assoc Physicians India. 2015 Jun;63(6):75-7.

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Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.

Wang K, Xu R, Schrandt J, Shah P, Gong YZ, Preston C, Wang L, Yi JK, Lin CL, Sun W, Spyropoulos DD, Rhee S, Li M, Zhou J, Ge S, Zhang G, Snider AJ, Hannun YA, Obeid LM, Mao C.

PLoS Genet. 2015 Oct 16;11(10):e1005591. doi: 10.1371/journal.pgen.1005591.

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