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ResearcherID: G-8785-2017

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Czech Republic

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Employment (1)

1st Faculty of Medicine, Charles University: Prague, CZ

(Institute of Inherited Metabolic Disorders)
Employment
Source: Self-asserted source
Linda Berna

Works (15)

The birth prevalence of lysosomal storage disorders in the Czech Republic: Comparison with data in different populations

Journal of Inherited Metabolic Disease
2010 | Journal article
DOI: 10.1007/s10545-010-9093-7
EID:

2-s2.0-77956060447
Contributors: Poupětová, H.; Ledvinová, J.; Berná, L.; Dvořáková, L.; Kožich, V.; Elleder, M.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Mucopolysaccharidosis type i in 21 czech and slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA Protein

American Journal of Medical Genetics, Part A
2009 | Journal article
DOI: 10.1002/ajmg.a.32812
EID:

2-s2.0-66849122069
Contributors: Vazna, A.; Beesley, C.; Berna, L.; Stolnaja, L.; Myskova, H.; Bouckova, M.; Vlaskova, H.; Poupetova, H.; Zeman, J.; Magner, M. et al.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

American Journal of Medical Genetics, Part A
2009 | Journal article
DOI: 10.1002/ajmg.a.32712
EID:

2-s2.0-63749100505
Contributors: Kuchař, L.; Ledvinová, J.; Hřebíček, M.; Myšková, H.; Dvořáková, L.; Berná, L.; Chrastina, P.; Asfaw, B.; Elleder, M.; Petermöller, M. et al.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

Journal of Inherited Metabolic Disease
2008 | Journal article
DOI: 10.1007/s10545-008-0900-3
EID:

2-s2.0-50149103246
Contributors: Vylet'al, P.; Hålková, H.; Živná, M.; Berná, L.; Novák, P.; Elleder, M.; Kmoch, S.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Replacement of α-galactosidase A in Fabry disease: Effect on fibroblast cultures compared with biopsied tissues of treated patients

Virchows Archiv
2008 | Journal article
DOI: 10.1007/s00428-008-0586-9
EID:

2-s2.0-44449096508
Contributors: Keslová-Veselíková, J.; Hůlková, H.; Dobrovolný, R.; Asfaw, B.; Poupětová, H.; Berná, L.; Sikora, J.; Goláň, L.; Ledvinová, J.; Elleder, M.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Tandem mass spectrometry of globotriaosylceramide: Quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease

Klinicka Biochemie a Metabolismus
2007 | Journal article
EID:

2-s2.0-78649929103
Contributors: Chrastina, P.; Martincová, O.; Berná, L.; Ledvinová, J.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Gene symbol: ARSA. Disease: metachromatic leukodystrophy.

Human genetics.
2005 | Journal article
EID:

2-s2.0-33644950081
Contributors: Berna, L.; Gieselmann, V.; Poupetova, H.; Hrebicek, M.; Elleder, M.; Ledvinova, J.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Gene symbol: ARSA. Disease: metachromatic leukodystrophy.

Human genetics.
2005 | Journal article
EID:

2-s2.0-33644945205
Contributors: Berna, L.; Gieselmann, V.; Poupetova, H.; Hrebicek, M.; Elleder, M.; Ledvinova, J.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Missense mutations as a cause of metachromatic leukodystrophy: Degradation of arylsulfatase A in the endoplasmic reticulum

FEBS Journal
2005 | Journal article
DOI: 10.1111/j.1742-4658.2005.04553.x
EID:

2-s2.0-14644390973
Contributors: Poeppel, P.; Habetha, M.; Marcão, A.; Büssow, H.; Berna, L.; Gieselmann, V.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

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

Molecular Genetics and Metabolism
2005 | Journal article
DOI: 10.1016/j.ymgme.2005.07.010
EID:

2-s2.0-27644447923
Contributors: Lugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.U.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.G.; Lissens, W. et al.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Prosaposin deficiency - A rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient

Neuropediatrics
2005 | Journal article
DOI: 10.1055/s-2005-865608
EID:

2-s2.0-23644446418
Contributors: Elleder, M.; Jeřábková, M.; Befekadu, A.; Hřebíček, M.; Berná, L.; Ledvinová, J.; Hůlková, H.; Rosewich, H.; Schymik, N.; Paton, B.C. et al.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

American Journal of Medical Genetics
2004 | Journal article
DOI: 10.1002/ajmg.a.30118
EID:

2-s2.0-4444324218
Contributors: Berná, L.; Gieselmann, V.; Poupětová, H.; Hřebíček, M.; Elleder, M.; Ledvinová, J.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Six-year follow-up of the adult form of metachromatic leukodystrophy | Šest'ročné sledovanie adultnej formy metachromatickej leukodystrofie

Ceska a Slovenska Neurologie a Neurochirurgie
2003 | Journal article
EID:

2-s2.0-17044447028
Contributors: Voško, M.R.; Kurča, E.; Michalik, J.; Poupětová, H.; Berná, L.; Adamková, M.; Drobný, M.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

Human Molecular Genetics
2001 | Journal article
EID:

2-s2.0-0035871255
Contributors: Hulková, H.; Cervenková, M.; Ledvinová, J.; Tochácková, M.; Hrebícek, M.; Poupetová, H.; Befekadu, A.; Berná, L.; Paton, B.C.; Harzer, K. et al.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies

Analytical Biochemistry
1999 | Journal article
DOI: 10.1006/abio.1999.4002
EID:

2-s2.0-0344348890
Contributors: Berná, L.; Asfaw, B.; Conzelmann, E.; Černý, B.; Ledvinová, J.
Source: Self-asserted source
Linda Berna via Scopus - Elsevier
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