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Results: 1 to 20 of 381

1.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); the EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Jun 26. pii: awu174. [Epub ahead of print]

PMID:
24972706
[PubMed - as supplied by publisher]
2.

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Bela M, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL.

J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29.

PMID:
24780882
[PubMed - in process]
Free PMC Article
3.

Spinocerebellar ataxia type 2: progression before diagnosis.

Klockgether T.

Lancet Neurol. 2014 May;13(5):445-6. doi: 10.1016/S1474-4422(14)70044-4. Epub 2014 Mar 20. No abstract available.

PMID:
24657152
[PubMed - indexed for MEDLINE]
4.

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.

Boesch S, Nachbauer W, Mariotti C, Sacca F, Filla A, Klockgether T, Klopstock T, Schöls L, Jacobi H, Büchner B, vom Hagen JM, Nanetti L, Manicom K.

Mov Disord. 2014 Jun;29(7):935-9. doi: 10.1002/mds.25836. Epub 2014 Feb 11.

PMID:
24515352
[PubMed - in process]
5.

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O.

Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13.

PMID:
24418350
[PubMed - in process]
6.

Reply to: Cognitive dysfunction in spinocerebellar ataxia type 3: variable topographies and patterns.

Roeske S, Filla I, Heim S, Amunts K, Helmstaedter C, Wüllner U, Wagner M, Klockgether T, Minnerop M.

Mov Disord. 2014 Jan;29(1):157-8. doi: 10.1002/mds.25755. Epub 2013 Dec 11. No abstract available.

PMID:
24338591
[PubMed - in process]
7.

A randomized pilot study of stochastic vibration therapy in spinocerebellar ataxia.

Kaut O, Jacobi H, Coch C, Prochnicki A, Minnerop M, Klockgether T, Wüllner U.

Cerebellum. 2014 Apr;13(2):237-42. doi: 10.1007/s12311-013-0532-5.

PMID:
24197754
[PubMed - in process]
8.

Abnormal movement preparation in task-specific focal hand dystonia.

Jankowski J, Paus S, Scheef L, Bewersdorff M, Schild HH, Klockgether T, Boecker H.

PLoS One. 2013 Oct 22;8(10):e78234. doi: 10.1371/journal.pone.0078234. eCollection 2013.

PMID:
24167610
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.

Ganos C, Zittel S, Minnerop M, Schunke O, Heinbokel C, Gerloff C, Zühlke C, Bauer P, Klockgether T, Münchau A, Bäumer T.

Cerebellum. 2014 Feb;13(1):89-96. doi: 10.1007/s12311-013-0522-7.

PMID:
24030789
[PubMed - in process]
10.

Experience in a short-term trial with 4-aminopyridine in cerebellar ataxia.

Giordano I, Bogdanow M, Jacobi H, Jahn K, Minnerop M, Schoels L, Synofzik M, Teufel J, Klockgether T.

J Neurol. 2013 Aug;260(8):2175-6. doi: 10.1007/s00415-013-7029-5. Epub 2013 Jul 4. No abstract available.

PMID:
23824358
[PubMed - indexed for MEDLINE]
11.

[MSA-QoL: disease-specific questionnaire to assess health-related quality of life in multiple system atrophy: validation of the German translation].

Krismer F, Duerr S, Minnerop M, Klockgether T, Stamelou M, Eggert KM, Oertel WH, Schrag A, Poewe W, Wenning GK.

Nervenarzt. 2013 Jun;84(6):709-14. doi: 10.1007/s00115-013-3764-1. German.

PMID:
23756819
[PubMed - indexed for MEDLINE]
12.

Progressive cognitive dysfunction in spinocerebellar ataxia type 3.

Roeske S, Filla I, Heim S, Amunts K, Helmstaedter C, Wüllner U, Wagner M, Klockgether T, Minnerop M.

Mov Disord. 2013 Sep;28(10):1435-8. doi: 10.1002/mds.25512. Epub 2013 Jun 4.

PMID:
23736996
[PubMed - indexed for MEDLINE]
13.

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, Filla A, Antenora A, Schöls L, Schicks J, Infante J, Kang JS, Timmann D, Di Fabio R, Masciullo M, Baliko L, Melegh B, Boesch S, Bürk K, Peltz A, Schulz JB, Dufaure-Garé I, Klockgether T.

Lancet Neurol. 2013 Jul;12(7):650-8. doi: 10.1016/S1474-4422(13)70104-2. Epub 2013 May 22. Erratum in: Lancet Neurol. 2013 Jul;12(7):630.

PMID:
23707147
[PubMed - indexed for MEDLINE]
14.

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators.

Brain. 2013 Mar;136(Pt 3):905-17. doi: 10.1093/brain/aws369. Epub 2013 Feb 18.

PMID:
23423669
[PubMed - indexed for MEDLINE]
Free Article
15.

The natural history of multiple system atrophy: a prospective European cohort study.

Wenning GK, Geser F, Krismer F, Seppi K, Duerr S, Boesch S, Köllensperger M, Goebel G, Pfeiffer KP, Barone P, Pellecchia MT, Quinn NP, Koukouni V, Fowler CJ, Schrag A, Mathias CJ, Giladi N, Gurevich T, Dupont E, Ostergaard K, Nilsson CF, Widner H, Oertel W, Eggert KM, Albanese A, del Sorbo F, Tolosa E, Cardozo A, Deuschl G, Hellriegel H, Klockgether T, Dodel R, Sampaio C, Coelho M, Djaldetti R, Melamed E, Gasser T, Kamm C, Meco G, Colosimo C, Rascol O, Meissner WG, Tison F, Poewe W; European Multiple System Atrophy Study Group.

Lancet Neurol. 2013 Mar;12(3):264-74. doi: 10.1016/S1474-4422(12)70327-7. Epub 2013 Feb 5.

PMID:
23391524
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[The genetics of spinocerebellar ataxias].

Jacobi H, Minnerop M, Klockgether T.

Nervenarzt. 2013 Feb;84(2):137-42. doi: 10.1007/s00115-012-3637-z. Review. German.

PMID:
23338152
[PubMed - indexed for MEDLINE]
17.

Isolated spasticity in sporadic Creutzfeldt-Jakob disease.

Marek M, Klockgether T, Urbach H, Zerr I, Kretzschmar H, Paus S.

J Neurol. 2013 Feb;260(2):654-5. doi: 10.1007/s00415-012-6746-5. Epub 2012 Nov 16. No abstract available.

PMID:
23161461
[PubMed - indexed for MEDLINE]
18.

Prospective analysis of falls in dominant ataxias.

Fonteyn EM, Schmitz-Hübsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, Bunn L, Giunti P, Globas C, Klockgether T, Melegh B, Pandolfo M, Schöls L, Timmann D, van de Warrenburg BP.

Eur Neurol. 2013;69(1):53-7. doi: 10.1159/000342907. Epub 2012 Nov 7.

PMID:
23146840
[PubMed - indexed for MEDLINE]
19.

Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.

Jacobi H, Rakowicz M, Rola R, Fancellu R, Mariotti C, Charles P, Dürr A, Küper M, Timmann D, Linnemann C, Schöls L, Kaut O, Schaub C, Filla A, Baliko L, Melegh B, Kang JS, Giunti P, van de Warrenburg BP, Fimmers R, Klockgether T.

Cerebellum. 2013 Jun;12(3):418-28. doi: 10.1007/s12311-012-0421-3.

PMID:
23090211
[PubMed - indexed for MEDLINE]
20.

Licensing of myeloid cells promotes central nervous system autoimmunity and is controlled by peroxisome proliferator-activated receptor γ.

Hucke S, Floßdorf J, Grützke B, Dunay IR, Frenzel K, Jungverdorben J, Linnartz B, Mack M, Peitz M, Brüstle O, Kurts C, Klockgether T, Neumann H, Prinz M, Wiendl H, Knolle P, Klotz L.

Brain. 2012 May;135(Pt 5):1586-605. doi: 10.1093/brain/aws058. Epub 2012 Mar 24.

PMID:
22447120
[PubMed - indexed for MEDLINE]
Free Article

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