Lugowska A - Search Results

1

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. Hofer D, et al. Among authors: lugowska a. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

2

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: lugowska a. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

3

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.

Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556

4

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J. Kuchar L, et al. Among authors: lugowska a. Anal Biochem. 2017 May 15;525:73-77. doi: 10.1016/j.ab.2017.02.019. Epub 2017 Mar 1. Anal Biochem. 2017. PMID: 28259515

5

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.

Tylki-Szymańska A, Ługowska A, Chmielik J, Kotowicz J, Jakubowska-Winecka A, Zobel M, Berger J, Molzer B. Tylki-Szymańska A, et al. Among authors: lugowska a. Am J Med Genet. 2002 Jul 15;110(4):315-9. doi: 10.1002/ajmg.10369. Am J Med Genet. 2002. PMID: 12116203

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. J Appl Genet. 2005;46(3):337-9. J Appl Genet. 2005. PMID: 16110195

7

Molecular bases of metachromatic leukodystrophy in Polish patients.

Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A. Lugowska A, et al. J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26. J Hum Genet. 2010. PMID: 20339381

8

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

Tylki-Szymanska A, Berger J, Löschl B, Lugowska A, Molzer B. Tylki-Szymanska A, et al. Among authors: lugowska a. Clin Genet. 1996 Nov;50(5):287-92. doi: 10.1111/j.1399-0004.1996.tb02376.x. Clin Genet. 1996. PMID: 9007312

9

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.

Berger J, Löschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B. Berger J, et al. Among authors: lugowska a. Am J Med Genet. 1997 Mar 31;69(3):335-40. Am J Med Genet. 1997. PMID: 9096767

10

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.

Tylki-Szymańska AT, Czartoryska B, Lugowska A. Tylki-Szymańska AT, et al. Among authors: lugowska a. Eur Neurol. 1998 Aug;40(2):67-70. doi: 10.1159/000007960. Eur Neurol. 1998. PMID: 9693234

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