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Items: 1 to 20 of 52

1.

Clinical manifestations of intermediate allele carriers in Huntington disease.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network..

Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944.

PMID:
27402890
2.

High relative frequency of SCA1 in Poland reflecting a potential founder effect.

Krysa W, Sulek A, Rakowicz M, Szirkowiec W, Zaremba J.

Neurol Sci. 2016 Aug;37(8):1319-25. doi: 10.1007/s10072-016-2594-x.

3.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A.

J Neurol Sci. 2015 Dec 15;359(1-2):35-9. doi: 10.1016/j.jns.2015.10.030.

PMID:
26671083
4.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T.

Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1.

PMID:
26377379
5.

Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6.

Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, van de Warrenburg BP, Pedersen K, Depondt C, Rola R, Klockgether T, García A, Mutlu G, Schöls L.

Cerebellum. 2016 Apr;15(2):165-73. doi: 10.1007/s12311-015-0684-6.

PMID:
26054379
6.

Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

Acewicz A, Wierzba-Bobrowicz T, Lewandowska E, Sienkiewicz-Jarosz H, Sulek A, Antczak J, Rakowicz M, Ryglewicz D.

Clin Neuropathol. 2015 Jul-Aug;34(4):199-206. doi: 10.5414/NP300829.

PMID:
25828775
7.

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).; EUROSCA network., Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174.

8.

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, Melegh B, 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. Erratum in: J Med Genet. 2014 Sep;51(9):613. Bela, Melegh [corrected to Melegh, Béla].

9.

Negative influence of L-dopa on subjectively assessed sleep but not on nocturnal polysomnography in Parkinson's disease.

Antczak JM, Rakowicz MJ, Banach M, Derejko M, Sienkiewicz J, Zalewska U, Więcławska M, Jakubczyk T, Jernajczyk W.

Pharmacol Rep. 2013;65(3):614-23.

10.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network., Nguyen HP.

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951.

11.

Suicidal ideation in a European Huntington's disease population.

Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network..

J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001.

12.

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. Erratum in: Lancet Neurol. 2013 Jul;12(7):630.

PMID:
23707147
13.

Corticomotor excitability in drug-naive patients with Parkinson disease.

Derejko M, Rakowicz M, Antczak J, Inglot E, Niewiadomska M.

Neurol Neurochir Pol. 2013 Mar-Apr;47(2):109-15.

PMID:
23649998
14.

The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe.

Eatough V, Santini H, Eiser C, Goller ML, Krysa W, de Nicola ', Paduanello M, Petrollini M, Rakowicz M, Squitieri F, Tibben A, Weille KL, Landwehrmeyer B, Quarrell O, Smith JA.

Eur J Hum Genet. 2013 Oct;21(10):1042-8. doi: 10.1038/ejhg.2013.15.

15.

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.

PMID:
23423669
16.

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; Registry investigators of the European Huntington's Disease Network..

J Huntingtons Dis. 2013;2(1):107-24. doi: 10.3233/JHD-130002.

PMID:
25057107
17.

A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease.

HORIZON Investigators of the Huntington Study Group and European Huntington's Disease Network..

JAMA Neurol. 2013 Jan;70(1):25-33. doi: 10.1001/2013.jamaneurol.382.

PMID:
23108692
18.

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
19.

Current Pharmacological Management in Juvenile Huntington's Disease.

Robertson L, Santini H, O'Donovan KL, Squitieri F, Barker RA, Rakowicz M, Landwehrmeyer GB, Quarrell O.

Version 3. PLoS Curr. 2012 Feb 15 [revised 2012 Jan 1];4:RRN1304.

20.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG)., Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network., Myers RH; HD-MAPS Study Group., MacDonald ME, Gusella JF; COHORT study of the HSG..

Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683.

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