Inicia sesión Registrate Mi Biblioteca idioma

Idioma

biblioteca idioma abrir menu

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 76 AL 90

PUBMED

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA.

Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7.

0

0

0

PUBMED

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J.

BMC Med Genet. 2015 Jul 21;16:51. doi: 10.1186/s12881-015-0200-3.

0

0

0

PUBMED

Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

Ram S, Devapriya IA, Fenton G, Mcvay L, Nguyen DV, Tassone F, Maselli RA, Hagerman RJ.

Muscle Nerve. 2015 Aug;52(2):234-9. doi: 10.1002/mus.24515.

0

0

0

PUBMED

A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.

Wright FA, Lu JP, Sliter DA, Dupré N, Rouleau GA, Wojcikiewicz RJ.

J Biol Chem. 2015 May 29;290(22):13948-57. doi: 10.1074/jbc.M115.655043.

0

0

0

PUBMED

Interleukin 6 trigged ataxia-telangiectasia mutated activation facilitates lung cancer metastasis via MMP-3/MMP-13 up-regulation.

Jiang YN, Yan HQ, Huang XB, Wang YN, Li Q, Gao FG.

Oncotarget. 2015 Dec 1;6(38):40719-33. doi: 10.18632/oncotarget.5825.

0

0

0

PUBMED

From Mice to Men: TRPC3 in Cerebellar Ataxia.

Becker EB.

Cerebellum. 2015 Mar 14. [Epub ahead of print]

0

0

0

PUBMED

[Advances of Research on Ataxia Telangiectasia Mutated Gene and Risk Factors of Cardiovascular Disease].

Ding X, Ding Y, Yue J, Xiao H, Dong B.

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2015 Apr;32(2):475-9. Review. Chinese.

0

0

0

PUBMED

Ataxia-telangiectasia-mutated protein kinase levels stratify patients with pancreatic adenocarcinoma into prognostic subgroups with loss being a strong indicator of poor survival.

Kamphues C, Bova R, Bahra M, Klauschen F, Muckenhuber A, Sinn BV, Warth A, Goeppert B, Endris V, Neuhaus P, Weichert W, Stenzinger A.

Pancreas. 2015 Mar;44(2):296-301. doi: 10.1097/MPA.0000000000000248.

0

0

0

PUBMED

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB.

J Child Neurol. 2015 Nov;30(13):1749-56. doi: 10.1177/0883073815579708.

0

0

0

PUBMED

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Zühlke C, Mikat B, Timmann D, Wieczorek D, Gillessen-Kaesbach G, Bürk K.

Cerebellum Ataxias. 2015 Dec 16;2:19. doi: 10.1186/s40673-015-0038-7.

0

0

0

PUBMED

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.

Nanetti L, Pensato V, Leoni V, Rizzetto M, Caccia C, Taroni F, Mariotti C, Gellera C.

J Clin Neurol. 2015 Apr;11(2):197-9. doi: 10.3988/jcn.2015.11.2.197. No abstract available.

0

0

0

PUBMED

Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome.

Panzer JA, Anand R, Dalmau J, Lynch DR.

J Neuroimmunol. 2015 Sep 15;286:86-92. doi: 10.1016/j.jneuroim.2015.07.007.

0

0

0

PUBMED

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.

Saigoh K, Mitsui J, Hirano M, Shioyama M, Samukawa M, Ichikawa Y, Goto J, Tsuji S, Kusunoki S.

Parkinsonism Relat Disord. 2015 Mar;21(3):332-4. doi: 10.1016/j.parkreldis.2014.12.028. No abstract available.

0

0

0

PUBMED

Clinical variability in ataxia-telangiectasia.

Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T.

J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z.

0

0

0

PUBMED

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, Otobe R, Watanabe M, Maruyama H, Hashimoto K, Kawakami H.

Mol Brain. 2015 Dec 29;8:89. doi: 10.1186/s13041-015-0180-4.

0

0

0

Comentarios

En ningún caso la información facilitada constituye asesoramiento por parte de Zambon

Con el aval de:

Logo SEN Logo HONcode Logo WIS

En colaboración con:

Zambon Neuroacademy