Kmiec T - Search Results

1

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: kmiec t. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.

2

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Hartig MB, et al. Among authors: kmiec t. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

3

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.

Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson SD, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai VI, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider SA. Dusek P, et al. Among authors: kmiec t. Mov Disord. 2020 Jan;35(1):142-150. doi: 10.1002/mds.27827. Epub 2019 Sep 13. Mov Disord. 2020. PMID: 31518459

4

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: kmiec t. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766

5

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Skowronska M, Kmiec T, Jurkiewicz E, Malczyk K, Kurkowska-Jastrzębska I, Czlonkowska A. Skowronska M, et al. Among authors: kmiec t. Parkinsonism Relat Disord. 2017 Jun;39:71-76. doi: 10.1016/j.parkreldis.2017.03.013. Epub 2017 Mar 21. Parkinsonism Relat Disord. 2017. PMID: 28347614

6

Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.

Ługowska A, Szymańska K, Kmiec T, Tarczyńska I, Czartoryska B, Tylki-Szymańska A, Jurkiewicz E. Ługowska A, et al. Among authors: kmiec t. J Appl Genet. 2005;46(3):337-9. J Appl Genet. 2005. PMID: 16110195

7

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: kmiec t. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683

8

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

Kmieć T, Bilska M, Mierzewska H, Jurkiewicz E, Jóźwiak S. Kmieć T, et al. Neurol Neurochir Pol. 2007 May-Jun;41(3):267-71. Neurol Neurochir Pol. 2007. PMID: 17629821 Polish.

9

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M. Piekutowska-Abramczuk D, et al. Among authors: kmiec t. J Appl Genet. 2001;42(1):103-8. J Appl Genet. 2001. PMID: 14564068

10

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ. Hogarth P, et al. Among authors: kmiec t. Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27. Mol Genet Metab. 2017. PMID: 28034613 No abstract available.

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