Krygier M - Search Results

1

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Krygier M, Pietruszka M, Zawadzka M, Sawicka A, Lemska A, Limanówka M, Żurek J, Talaśka-Liczbik W, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Front Genet. 2024 Jan 5;14:1300952. doi: 10.3389/fgene.2023.1300952. eCollection 2023. Front Genet. 2024. PMID: 38250573 Free PMC article.

2

A simple modification to improve the accuracy of methylation-sensitive restriction enzyme quantitative polymerase chain reaction.

Krygier M, Podolak-Popinigis J, Limon J, Sachadyn P, Stanisławska-Sachadyn A. Krygier M, et al. Anal Biochem. 2016 May 1;500:88-90. doi: 10.1016/j.ab.2016.01.020. Epub 2016 Feb 4. Anal Biochem. 2016. PMID: 26853744

3

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B. Ratajska M, et al. Among authors: krygier m. J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1. J Appl Genet. 2015. PMID: 25366421 Free PMC article.

4

Milestones in genetics of cerebellar ataxias.

Krygier M, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Neurogenetics. 2021 Oct;22(4):225-234. doi: 10.1007/s10048-021-00656-3. Epub 2021 Jul 5. Neurogenetics. 2021. PMID: 34224032 Free PMC article. Review.

5

Reflex seizures in rare monogenic epilepsies.

Krygier M, Zawadzka M, Sawicka A, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Seizure. 2022 Apr;97:32-34. doi: 10.1016/j.seizure.2022.03.004. Epub 2022 Mar 10. Seizure. 2022. PMID: 35305402 Free article.

6

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M. Zawadzka M, et al. Among authors: krygier m. Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29. Clin Genet. 2022. PMID: 35861300

7

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Dubey AA, Krygier M, Szulc NA, Rutkowska K, Kosińska J, Pollak A, Rydzanicz M, Kmieć T, Mazurkiewicz-Bełdzińska M, Pokrzywa W, Płoski R. Dubey AA, et al. Among authors: krygier m. Hum Mol Genet. 2023 Mar 20;32(7):1152-1161. doi: 10.1093/hmg/ddac276. Hum Mol Genet. 2023. PMID: 36336956 Free PMC article.

8

Hyperkinetic movement disorder in FBXO28-related developmental and epileptic encephalopathy.

Krygier M, Talaśka-Liczbik W, Zawadzka M, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Seizure. 2024 May 3;119:1-2. doi: 10.1016/j.seizure.2024.05.002. Online ahead of print. Seizure. 2024. PMID: 38728953 Free article. No abstract available.

9

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Krygier M, Kwarciany M, Wasilewska K, Pienkowski VM, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzanicz M. Krygier M, et al. Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489. Epub 2019 Jan 8. Clin Genet. 2019. PMID: 30548255

10

False-negative tests in Huntington's disease: A new variant within primer hybridization site.

Dulski J, Sulek A, Krygier M, Radziwonik W, Slawek J. Dulski J, et al. Among authors: krygier m. Eur J Neurol. 2021 Jun;28(6):2103-2105. doi: 10.1111/ene.14772. Epub 2021 Mar 8. Eur J Neurol. 2021. PMID: 33576024

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