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Items: 1 to 20 of 28

1.

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study.

McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L; REGISTRY Investigators of the European Huntington's Disease Network .

J Huntingtons Dis. 2018;7(3):209-222. doi: 10.3233/JHD-170263.

PMID:
30103338
2.

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J.

Neurol Neurochir Pol. 2018 May 17. pii: S0028-3843(18)30152-X. doi: 10.1016/j.pjnns.2018.04.004. [Epub ahead of print]

PMID:
29880430
3.

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J.

Neurol Neurochir Pol. 2018 Mar 7. pii: S0028-3843(17)30336-5. doi: 10.1016/j.pjnns.2018.02.008. [Epub ahead of print]

PMID:
29588063
4.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Hensman Moss DJ, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ.

Lancet Neurol. 2017 Sep;16(9):701-711. doi: 10.1016/S1474-4422(17)30161-8. Epub 2017 Jun 20. Erratum in: Lancet Neurol. 2017 Sep;16(9):683.

PMID:
28642124
5.

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. Epub 2016 Jul 8.

PMID:
27402890
6.

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. Epub 2016 May 19.

7.

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. Epub 2015 Oct 17.

PMID:
26671083
8.

Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?

Nojszewska M, Łusakowska A, Szmidt-Salkowska E, Gaweł M, Lipowska M, Sułek A, Krysa W, Rajkiewicz M, Seroka A, Kaczmarek K, Kamińska AM.

Neurol Neurochir Pol. 2015;49(3):164-70. doi: 10.1016/j.pjnns.2015.04.008. Epub 2015 May 6.

PMID:
26048604
9.

Does quantitative EMG differ myotonic dystrophy type 2 and type 1?

Szmidt-Salkowska E, Gawel M, Lusakowska A, Nojszewska M, Lipowska M, Sulek A, Krysa W, Rajkiewicz M, Seroka A, Kaminska AM.

J Electromyogr Kinesiol. 2014 Oct;24(5):755-61. doi: 10.1016/j.jelekin.2014.05.012. Epub 2014 Jun 25.

PMID:
25052913
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. Print 2013.

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. Epub 2013 Jul 20.

12.

Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2).

Gawel M, Szmidt-Salkowska E, Lusakowska A, Nojszewska M, Sulek A, Krysa W, Rajkiewicz M, Seroka A, Kaminska AM.

Muscle Nerve. 2014 Feb;49(2):277-83. doi: 10.1002/mus.23908. Epub 2013 Jul 3. Erratum in: Muscle Nerve. 2014 Apr;49(4):620.

PMID:
23716346
13.

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. Epub 2013 Feb 27.

14.

Hereditary form of prion disease in Poland.

Zimowski J, Kulczycki J, Lojkowska W, Szpak G, Krysa W, Szirkowiec W, Limon-Sztencel A, Zaremba J.

Neurol Neurochir Pol. 2012 Nov-Dec;46(6):509-18.

PMID:
23319218
15.

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
16.

Recommendations for the predictive genetic test in Huntington's disease.

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network.

Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. No abstract available.

PMID:
22642570
17.
18.

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. Epub 2012 Feb 8.

19.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

Sulek A, Elert E, Rajkiewicz M, Zdzienicka E, Stepniak I, Krysa W, Zaremba J.

Neurol Sci. 2013 Feb;34(2):239-42. doi: 10.1007/s10072-011-0899-3. Epub 2011 Dec 28.

PMID:
22203332
20.

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network.

Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3.

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