Publications by authors named "Martin Magner"

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Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Martin Magner

Clin Genet· December 2025

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Determinants of tuberculosis infection and disease in paediatric patients in the Czech Republic after tuberculosis exposure.
Luboš Bača, Martin Magner, Karolína Doležalová

Int Health· December 2025

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Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.
Barbara K Burton, Daniel Fertek, Peter S Chin, Carole Ho, Roberto Giugliani, Martin Magner

Mol Genet Metab· November 2025

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Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).
Karolina M Stepien, Barbara K Burton, Michael B Bober, Philippe M Campeau, Carolyn Ellaway, Martin Magner

Orphanet J Rare Dis· October 2025

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Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series.
Jorga Fialová, Martina Kojanová, Robert Šáhó, Martin Magner

JAAD Case Rep· August 2025

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Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Robert Šáhó, Renata Formánková, Julie B Eisengart, Allan Meldgaard Lund, Cecilie Videbaek, Martin Magner

J Inherit Metab Dis· July 2025

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Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
Karolina M Stepien, Sophie Thomas, Julia B Hennermann, Christina Lampe, Nicole M Muschol, Martin Magner

Orphanet J Rare Dis· May 2025

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Correction to: Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells.
Lenka Murgasova, Helena Hulkova, Veronika Baresova, Michal Jurovcik, Jan Stritesky, Martin Magner

Virchows Arch· March 2025

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Hearing loss in patients with Morquio A syndrome: A scoping review.
Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Katherine Silva-Cuero, Juan David Gutierrez-Medina, Wilmar Saldarriaga, Martin Magner

Medicine (Baltimore)· January 2025

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Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Nathalie Guffon, Barbara K Burton, Can Ficicioglu, Martin Magner, Mercedes Gil-Campos

Mol Genet Metab· August 2024

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The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.
Roberta Caorsi, Alessandro Consolaro, Camilla Speziani, Betul Sozeri, Kadir Ulu, Martin Magner

J Autoimmun· July 2024

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Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Jitka Májovská, Igor Nestrašil, Alia Ahmed, Monica T Bondy, Jiří Klempíř, Martin Magner

J Inherit Metab Dis· March 2024

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Reply to Curtis, L. Comment on "Magner et al. Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study. 2023, , 718".
Martin Magner, Ivana Švandová, Milan Houška

Nutrients· February 2024

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Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Lenka Murgasova, Helena Hulkova, Veronika Baresova, Michal Jurovcik, Jan Stritesky, Martin Magner

Virchows Arch· January 2024

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On the way to early diagnosis.
Martin Magner

Eur J Paediatr Neurol· January 2024

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B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C).
Adam Klocperk, Marketa Bloomfield, Zuzana Parackova, Ludovic Aillot, Jiri Fremuth, Martin Magner

Mol Cell Pediatr· October 2023

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Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Věra Malinová, Helena Poupětová, Martin Řeboun, Lenka Dvořáková, Stella Reichmannová, Martin Magner

Int J Mol Sci· September 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Martin Magner

Am J Hum Genet· February 2023

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Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study.
Martin Magner, Kateřina Thorová, Veronika Župová, Milan Houška, Ivana Švandová

Nutrients· January 2023

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Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
John J Mitchell, Barbara K Burton, Michael B Bober, Philippe M Campeau, Shelda Cohen, Martin Magner

Mol Genet Metab· October 2022

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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, Lenka Nosková, Martin Magner

Am J Hum Genet· October 2022

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Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Martin Řeboun, Jakub Sikora, Martin Magner, Helena Wiederlechnerová, Alena Černá

Am J Med Genet A· July 2022

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Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder.
Štěpán Kutílek, Eva Rondziková-Mlynarčíková, Kamila Pečenková, Richard Pikner, Tomáš Šmída, Martin Magner

Acta Medica (Hradec Kralove)· July 2022

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Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.
Lorena Diaz-Ordoñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgašová, Martin Magner

JMIR Res Protoc· June 2022

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Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.
Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu

Orphanet J Rare Dis· May 2022

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