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Items: 1 to 50 of 88

1.

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy.

Hernandez I, Luna G, Rauch JN, Reis SA, Giroux M, Karch CM, Boctor D, Sibih YE, Storm NJ, Diaz A, Kaushik S, Zekanowski C, Kang AA, Hinman CR, Cerovac V, Guzman E, Zhou H, Haggarty SJ, Goate AM, Fisher SK, Cuervo AM, Kosik KS.

Sci Transl Med. 2019 Mar 27;11(485). pii: eaat3005. doi: 10.1126/scitranslmed.aat3005.

PMID:
30918111
2.

Association of serotoninergic pathway gene variants with elite athletic status in the Polish population.

Peplonska B, Safranow K, Adamczyk J, Boguszewski D, Szymański K, Soltyszewski I, Barczak A, Siewierski M, Ploski R, Sozanski H, Zekanowski C.

J Sports Sci. 2019 Jul;37(14):1655-1662. doi: 10.1080/02640414.2019.1583156. Epub 2019 Mar 5.

PMID:
30836829
3.

Myofibrillar myopathy in the genomic context.

Fichna JP, Maruszak A, Żekanowski C.

J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. Review.

PMID:
30203143
4.

Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia.

Gaweda-Walerych K, Sitek EJ, Narożańska E, Wezyk M, Brockhuis B, Zekanowski C, Sławek J.

Neurobiol Aging. 2018 Dec;72:186.e9-186.e12. doi: 10.1016/j.neurobiolaging.2018.06.033. Epub 2018 Jul 2.

PMID:
30057241
5.

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.

Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1.

6.

Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer's Disease.

Wezyk M, Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Ilkowski J, Styczyńska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Skrzypczak M, Ginalski K, Kabza M, Makałowska I, Barcikowska-Kotowicz M, Branicki W, Żekanowski C.

Oxid Med Cell Longev. 2018 Apr 4;2018:6918797. doi: 10.1155/2018/6918797. eCollection 2018.

7.

Role of BRCA1 in Neuronal Death in Alzheimer's Disease.

Wezyk M, Zekanowski C.

ACS Chem Neurosci. 2018 May 16;9(5):870-872. doi: 10.1021/acschemneuro.8b00149. Epub 2018 Apr 10. Review.

PMID:
29634233
8.

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients.

Peplonska B, Berdynski M, Mandecka M, Barczak A, Kuzma-Kozakiewicz M, Barcikowska M, Zekanowski C.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):407-412. doi: 10.1080/21678421.2018.1451894. Epub 2018 Mar 20.

PMID:
29557178
9.

Modified aging of elite athletes revealed by analysis of epigenetic age markers.

Spólnicka M, Pośpiech E, Adamczyk JG, Freire-Aradas A, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Lareu MV, Phillips C, Płoski R, Żekanowski C, Branicki W.

Aging (Albany NY). 2018 Feb 15;10(2):241-252. doi: 10.18632/aging.101385.

10.

Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.

Wezyk M, Szybinska A, Wojsiat J, Szczerba M, Day K, Ronnholm H, Kele M, Berdynski M, Peplonska B, Fichna JP, Ilkowski J, Styczynska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Bojakowski K, Skrzypczak M, Ginalski K, Kabza M, Makalowska I, Barcikowska-Kotowicz M, Wojda U, Falk A, Zekanowski C.

J Alzheimers Dis. 2018;62(1):175-202. doi: 10.3233/JAD-170830.

PMID:
29439343
11.

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.

Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Karłowska-Pik J, Ziemkiewicz B, Wężyk M, Gasperowicz P, Bednarczuk T, Barcikowska M, Żekanowski C, Płoski R, Branicki W.

Int J Legal Med. 2018 Jan;132(1):1-11. doi: 10.1007/s00414-017-1636-0. Epub 2017 Jul 19.

12.

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

Fichna JP, Potulska-Chromik A, Miszta P, Redowicz MJ, Kaminska AM, Zekanowski C, Filipek S.

BBA Clin. 2016 Nov 11;7:1-7. eCollection 2017 Jun.

13.

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

Gaweda-Walerych K, Mohagheghi F, Zekanowski C, Buratti E.

Neurobiol Aging. 2016 Nov;47:127-138. doi: 10.1016/j.neurobiolaging.2016.07.014. Epub 2016 Jul 28.

PMID:
27574110
14.

Genetic variants associated with physical and mental characteristics of the elite athletes in the Polish population.

Peplonska B, Adamczyk JG, Siewierski M, Safranow K, Maruszak A, Sozanski H, Gajewski AK, Zekanowski C.

Scand J Med Sci Sports. 2017 Aug;27(8):788-800. doi: 10.1111/sms.12687. Epub 2016 May 3.

PMID:
27140937
15.

Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients.

Kierdaszuk B, Berdynski M, Palczewski P, Golebiowski M, Zekanowski C, Kaminska AM.

Folia Neuropathol. 2015;53(4):355-66.

16.

Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

Domitrz I, Kosiorek M, Żekanowski C, Kamińska A.

Hum Genomics. 2016 Jan 8;10:3. doi: 10.1186/s40246-015-0057-8.

17.

Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

Janik P, Berdyński M, Safranow K, Żekanowski C.

PLoS One. 2015 Aug 28;10(8):e0136754. doi: 10.1371/journal.pone.0136754. eCollection 2015.

18.

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.

Wierzba-Bobrowicz T, Lewandowska E, Zaremba J, Berdyński M, Żekanowski C, Stępień T, Felczak P, Tarka S.

Folia Neuropathol. 2014;52(4):457-66.

19.

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C.

PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014.

20.

Myosin VI localization and expression in striated muscle pathology.

Karolczak J, Weis S, Ehler E, Kierdaszuk B, Berdyński M, Zekanowski C, Kamińska AM, Rędowicz MJ.

Anat Rec (Hoboken). 2014 Sep;297(9):1706-13. doi: 10.1002/ar.22967.

21.

The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.

Janik P, Berdyński M, Safranow K, Zekanowski C.

Acta Neurobiol Exp (Wars). 2014;74(2):218-26.

22.

The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.

Gaweda-Walerych K, Zekanowski C.

Curr Genomics. 2013 Dec;14(8):543-59. doi: 10.2174/1389202914666131210211033.

23.

A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function.

Iyer A, Lapointe NE, Zielke K, Berdynski M, Guzman E, Barczak A, Chodakowska-Żebrowska M, Barcikowska M, Feinstein S, Zekanowski C.

PLoS One. 2013 Sep 27;8(9):e76409. doi: 10.1371/journal.pone.0076409. eCollection 2013.

24.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.

Kuźma-Kozakiewicz M, Berdyński M, Morita M, Takahashi Y, Kawata A, Kaida K, Kaźmierczak B, Lusakowska A, Goto J, Tsuji S, Zekanowski C, Kwieciński H.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):608-14. doi: 10.3109/21678421.2013.812119. Epub 2013 Jul 30.

PMID:
23898858
25.

Integrated pathways of parkin control over mitochondrial maintenance - relevance to Parkinson's disease pathogenesis.

Gaweda-Walerych K, Zekanowski C.

Acta Neurobiol Exp (Wars). 2013;73(2):199-224. Review.

26.

Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.

Jamrozik Z, Berdynski M, Zekanowski C, Baranczyk-Kuzma A, Sławek J, Kuzma-Kozakiewicz M, Maruszak A, Kwiecinski H.

Ann Clin Lab Sci. 2013 Spring;43(2):151-3. Erratum in: Ann Clin Lab Sci. 2014 Winter;44(1):110.

PMID:
23694789
27.

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

Sitek EJ, Narożańska E, Pepłońska B, Filipek S, Barczak A, Styczyńska M, Mlynarczyk K, Brockhuis B, Portelius E, Religa D, Barcikowska M, Sławek J, Żekanowski C.

PLoS One. 2013 Apr 12;8(4):e61074. doi: 10.1371/journal.pone.0061074. Print 2013.

28.

TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors.

Peplonska B, Safranow K, Gaweda-Walerych K, Maruszak A, Czyzewski K, Rudzinska M, Barcikowska M, Zekanowski C.

Neurobiol Aging. 2013 Aug;34(8):2078.e1-2. doi: 10.1016/j.neurobiolaging.2013.02.018. Epub 2013 Mar 21.

PMID:
23522842
29.

Association between plasma biomarkers, CDK5 polymorphism and the risk of Alzheimer's disease.

Czapski GA, Maruszak A, Styczyńska M, Żekanowski C, Safranow K, Strosznajder JB.

Acta Neurobiol Exp (Wars). 2012;72(4):397-411.

30.

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

Kierdaszuk B, Berdynski M, Karolczak J, Redowicz MJ, Zekanowski C, Kaminska AM.

Neuromuscul Disord. 2013 Mar;23(3):219-28. doi: 10.1016/j.nmd.2012.12.007. Epub 2013 Jan 30.

PMID:
23374900
31.

Mitochondrial DNA variation is associated with elite athletic status in the Polish population.

Maruszak A, Adamczyk JG, Siewierski M, Sozański H, Gajewski A, Żekanowski C.

Scand J Med Sci Sports. 2014 Apr;24(2):311-8. doi: 10.1111/sms.12012. Epub 2012 Nov 19.

PMID:
23163620
32.

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, Heilman KM, Wszolek ZK, Slawek J.

Neurocase. 2014;20(1):69-86. doi: 10.1080/13554794.2012.732087. Epub 2012 Nov 5.

33.

[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis].

Kierdaszuk B, Berdyński M, Zekanowski C, Kamińska A.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):384-91. Review. Polish.

PMID:
23023438
34.

PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.

Gaweda-Walerych K, Safranow K, Jasinska-Myga B, Bialecka M, Klodowska-Duda G, Rudzinska M, Czyzewski K, Cobb SA, Slawek J, Styczynska M, Opala G, Drozdzik M, Nishioka K, Farrer MJ, Ross OA, Wszolek ZK, Barcikowska M, Zekanowski C.

Parkinsonism Relat Disord. 2012 Jun;18(5):520-4. doi: 10.1016/j.parkreldis.2012.01.021. Epub 2012 Feb 22.

35.

TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity.

Maruszak A, Pepłońska B, Safranow K, Chodakowska-Żebrowska M, Barcikowska M, Zekanowski C.

J Alzheimers Dis. 2012;28(2):309-22. doi: 10.3233/JAD-2011-110743.

PMID:
22008263
36.

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C.

Amyotroph Lateral Scler. 2012 Jan;13(1):132-6. doi: 10.3109/17482968.2011.600316. Epub 2011 Aug 30. Erratum in: Amyotroph Lateral Scler. 2012 Jun;13(4):405.

PMID:
21877919
37.

The impact of mitochondrial and nuclear DNA variants on late-onset Alzheimer's disease risk.

Maruszak A, Safranow K, Branicki W, Gawęda-Walerych K, Pośpiech E, Gabryelewicz T, Canter JA, Barcikowska M, Zekanowski C.

J Alzheimers Dis. 2011;27(1):197-210. doi: 10.3233/JAD-2011-110710.

PMID:
21799244
38.

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

Luty AA, Kwok JB, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, Sobow T, Tchorzewska J, Maruszak A, Barcikowska M, Panegyres PK, Zekanowski C, Brooks WS, Williams KL, Blair IP, Mather KA, Sachdev PS, Halliday GM, Schofield PR.

Ann Neurol. 2010 Nov;68(5):639-49. doi: 10.1002/ana.22274.

PMID:
21031579
39.

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C.

J Alzheimers Dis. 2010;22(4):1123-33. doi: 10.3233/JAD-2010-101413.

40.

Mitochondrial dysfunction and Alzheimer's disease.

Maruszak A, Żekanowski C.

Prog Neuropsychopharmacol Biol Psychiatry. 2011 Mar 30;35(2):320-30. doi: 10.1016/j.pnpbp.2010.07.004. Epub 2010 Jul 16. Review.

PMID:
20624441
41.

Interleukin-1 gene -511 CT polymorphism and the risk of Alzheimer's disease in a Polish population.

Klimkowicz-Mrowiec A, Marona M, Wołkow P, Maruszak A, Styczynska M, Barcikowska M, Zekanowski C, Szczudlik A, Slowik A.

Dement Geriatr Cogn Disord. 2009;28(5):461-4. doi: 10.1159/000259460. Epub 2009 Nov 20.

PMID:
19940477
42.

Mitochondrial transcription factor A variants and the risk of Parkinson's disease.

Gaweda-Walerych K, Safranow K, Maruszak A, Bialecka M, Klodowska-Duda G, Czyzewski K, Slawek J, Rudzinska M, Styczynska M, Opala G, Drozdzik M, Kurzawski M, Szczudlik A, Canter JA, Barcikowska M, Zekanowski C.

Neurosci Lett. 2010 Jan 18;469(1):24-9. doi: 10.1016/j.neulet.2009.11.037. Epub 2009 Nov 17.

PMID:
19925850
43.

PIN1 gene variants in Alzheimer's disease.

Maruszak A, Safranow K, Gustaw K, Kijanowska-Haładyna B, Jakubowska K, Olszewska M, Styczyńska M, Berdyński M, Tysarowski A, Chlubek D, Siedlecki J, Barcikowska M, Zekanowski C.

BMC Med Genet. 2009 Nov 12;10:115. doi: 10.1186/1471-2350-10-115.

44.

Aneuploidy, chromosomal missegregation, and cell cycle reentry in Alzheimer's disease.

Zekanowski C, Wojda U.

Acta Neurobiol Exp (Wars). 2009;69(2):232-53. Review.

45.

Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.

Giżewska M, Hnatyszyn G, Sagan L, Cyryłowski L, Zekanowski C, Modrzejewska M, Nestorowicz B, Kubalska J, Walczak M.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S83-9. doi: 10.1007/s10545-009-1073-4. Epub 2009 Mar 30.

PMID:
19322676
46.

Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort.

Gaweda-Walerych K, Maruszak A, Safranow K, Bialecka M, Klodowska-Duda G, Czyzewski K, Slawek J, Rudzinska M, Styczynska M, Opala G, Drozdzik M, Canter JA, Barcikowska M, Zekanowski C.

J Neural Transm (Vienna). 2008 Nov;115(11):1521-6. doi: 10.1007/s00702-008-0121-9. Epub 2008 Sep 23.

PMID:
18810306
47.

Analysis of UBQLN1 variants in a Polish Alzheimer's disease patient: control series.

Golan MP, Melquist S, Safranow K, Styczyńska M, Słowik A, Kobryś M, Zekanowski C, Barcikowska M.

Dement Geriatr Cogn Disord. 2008;25(4):366-71. doi: 10.1159/000121006. Epub 2008 Mar 14.

PMID:
18340109
48.

Mitochondrial haplogroup H and Alzheimer's disease--is there a connection?

Maruszak A, Canter JA, Styczyńska M, Zekanowski C, Barcikowska M.

Neurobiol Aging. 2009 Nov;30(11):1749-55. doi: 10.1016/j.neurobiolaging.2008.01.004. Epub 2008 Mar 4.

PMID:
18308428
49.

Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.

Gacia M, Safranow K, Gabryelewicz T, Styczyńska M, Pepłońska B, Dziedziejko V, Jakubowska K, Chlubek D, Zekanowski C, Barcikowska M.

J Neural Transm (Vienna). 2008;115(1):85-90. Epub 2007 Dec 18.

PMID:
18087668
50.

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.

Golan MP, Styczyńska M, Jóźwiak K, Walecki J, Maruszak A, Pniewski J, Lugiewicz R, Filipek S, Zekanowski C, Barcikowska M.

Exp Neurol. 2007 Dec;208(2):264-8. Epub 2007 Sep 5.

PMID:
17931627

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