Fichna JP - Search Results

1

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. Wezyk M, et al. Among authors: fichna jp. J Alzheimers Dis. 2018;62(1):175-202. doi: 10.3233/JAD-170830. J Alzheimers Dis. 2018. PMID: 29439343

2

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. Fichna JP, et al. PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014. PLoS One. 2014. PMID: 25541946 Free PMC article.

3

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. Fichna JP, et al. BBA Clin. 2016 Nov 11;7:1-7. doi: 10.1016/j.bbacli.2016.11.004. eCollection 2017 Jun. BBA Clin. 2016. PMID: 27904835 Free PMC article.

4

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. Fichna JP, et al. Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1. Hum Genomics. 2018. PMID: 29970176 Free PMC article.

5

Myofibrillar myopathy in the genomic context.

Fichna JP, Maruszak A, Żekanowski C. Fichna JP, et al. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. J Appl Genet. 2018. PMID: 30203143 Review.

6

Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome.

Szejko N, Fichna JP, Safranow K, Dziuba T, Żekanowski C, Janik P. Szejko N, et al. Among authors: fichna jp. Front Genet. 2020 Mar 4;11:125. doi: 10.3389/fgene.2020.00125. eCollection 2020. Front Genet. 2020. PMID: 32194619 Free PMC article.

7

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A, Jędrzejowska M, Gos M, Rosiak E, Kierdaszuk B, Maruszak A, Opuchlik A, Zekanowski C, Fichna JP. Potulska-Chromik A, et al. Among authors: fichna jp. J Clin Med. 2021 Feb 26;10(5):914. doi: 10.3390/jcm10050914. J Clin Med. 2021. PMID: 33652732 Free PMC article.

8

Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population.

Fichna JP, Humińska-Lisowska K, Safranow K, Adamczyk JG, Cięszczyk P, Żekanowski C, Berdyński M. Fichna JP, et al. Genes (Basel). 2021 Jun 15;12(6):919. doi: 10.3390/genes12060919. Genes (Basel). 2021. PMID: 34203885 Free PMC article.

9

Genomic variants and inferred biological processes in multiplex families with Tourette syndrome.

Fichna JP, Borczyk M, Piechota M, Korostynski M, Zekanowski C, Janik P. Fichna JP, et al. J Psychiatry Neurosci. 2023 May 19;48(3):E179-E189. doi: 10.1503/jpn.220206. Print 2023 May-Jun. J Psychiatry Neurosci. 2023. PMID: 37208127 Free PMC article.

10

Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.

Fichna JP, Chiliński M, Halder AK, Cięszczyk P, Plewczynski D, Żekanowski C, Janik P. Fichna JP, et al. Int J Mol Sci. 2024 May 25;25(11):5758. doi: 10.3390/ijms25115758. Int J Mol Sci. 2024. PMID: 38891944 Free PMC article.

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