Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment
Juříková, Lenka, Masárová, Lucia, Panovský, Roman, Pešl, Martin, Revendová, Kamila Žondra, Volný, Ondřej, Feitová, Věra, Holeček, Tomaš, Kincl, Vladimír, Danhofer, Pavlína, Voháňka, Stanislav, Haberlová, Jana, Podolská, Karolína
Published in Frontiers in neurology (08.02.2024)
Published in Frontiers in neurology (08.02.2024)
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Genetic findings in Czech patients with limb girdle muscular dystrophy
Zídková, Jana, Kramářová, Tereza, Kopčilová, Johana, Réblová, Kamila, Haberlová, Jana, Mazanec, Radim, Voháňka, Stanislav, Gřegořová, Andrea, Langová, Martina, Honzík, Tomáš, Šoukalová, Jana, Ošlejšková, Hana, Solařová, Pavla, Vyhnálková, Emílie, Fajkusová, Lenka
Published in Clinical genetics (01.11.2023)
Published in Clinical genetics (01.11.2023)
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Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping
Panovský, Roman, Pešl, Martin, Holeček, Tomáš, Máchal, Jan, Feitová, Věra, Mrázová, Lenka, Haberlová, Jana, Slabá, Alžběta, Vít, Pavel, Stará, Veronika, Kincl, Vladimír
Published in Orphanet journal of rare diseases (09.01.2019)
Published in Orphanet journal of rare diseases (09.01.2019)
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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
Yiu, Eppie M, Bray, Paula, Baets, Jonathan, Baker, Steven K, Barisic, Nina, de Valle, Katy, Estilow, Timothy, Farrar, Michelle A, Finkel, Richard S, Haberlová, Jana, Kennedy, Rachel A, Moroni, Isabella, Nicholson, Garth A, Ramchandren, Sindhu, Reilly, Mary M, Rose, Kristy, Shy, Michael E, Siskind, Carly E, Yum, Sabrina W, Menezes, Manoj P, Ryan, Monique M, Burns, Joshua
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2022)
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MRI in sarcoglycanopathies: a large international cohort study
Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, Bruno, Claudio
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
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Patients' Perceptions of Nusinersen Effects According to Their Responder Status
Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney J, Benmhammed, Noor, Médard, Laurie, Servais, Laurent
Published in Journal of clinical medicine (11.06.2024)
Published in Journal of clinical medicine (11.06.2024)
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Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies
Lassuthova, Petra, Sišková, Dana, Haberlová, Jana, Sakmaryová, Iva, Filouš, Aleš, Seeman, Pavel
Published in Orphanet journal of rare diseases (01.04.2014)
Published in Orphanet journal of rare diseases (01.04.2014)
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Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
Fledrich, Robert, Mannil, Manoj, Leha, Andreas, Ehbrecht, Caroline, Solari, Alessandra, Pelayo-Negro, Ana L, Berciano, José, Schlotter-Weigel, Beate, Schnizer, Tuuli J, Prukop, Thomas, Garcia-Angarita, Natalia, Czesnik, Dirk, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Walter, Maggie C, TRIAAL, CMT, Hogrel, Jean-Yves, Dubourg, Odile, Schenone, Angelo, Baets, Jonathan, De Jonghe, Peter, Shy, Michael E, Horvath, Rita, Pareyson, Davide, Seeman, Pavel, Young, Peter, Sereda, Michael W
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
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Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease
Laššuthová, Petra, Žaliová, Markéta, Inoue, Ken, Haberlová, Jana, Sixtová, Klára, Sakmaryová, Iva, Paděrová, Kateřina, Mazanec, Radim, Zámečník, Josef, Šišková, Dana, Garbern, Jim, Seeman, Pavel
Published in Journal of child neurology (01.07.2014)
Published in Journal of child neurology (01.07.2014)
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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Stehlíková, Kristýna, Skálová, Daniela, Zídková, Jana, Mrázová, Lenka, Vondráček, Petr, Mazanec, Radim, Voháňka, Stanislav, Haberlová, Jana, Hermanová, Markéta, Zámečník, Josef, Souček, Ondřej, Ošlejšková, Hana, Dvořáčková, Nina, Solařová, Pavla, Fajkusová, Lenka
Published in BMC neurology (19.08.2014)
Published in BMC neurology (19.08.2014)
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Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
BROŽKOVÁ, DANA ŠAFKA, POSÁDKA, JAN, LAŠŠUTHOVÁ, PETRA, MAZANEC, RADIM, HABERLOVÁ, JANA, ŠIŠKOVÁ, DANA, SAKMARYOVÁ, IVA, NEUPAUEROVÁ, JANA, SEEMAN, PAVEL
Published in Molecular medicine reports (01.12.2013)
Published in Molecular medicine reports (01.12.2013)
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Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Iyer, Aishwarya, Lauerova, Barbora, Mariano, Jennifer, Haberlová, Jana, Lassuthova, Petra, Zidkova, Jana, Wright, Nathan T., Kontrogianni-Konstantopoulos, Aikaterini
Published in Gene (05.06.2024)
Published in Gene (05.06.2024)
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Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
Kotulska, Katarzyna, Fattal-Valevski, Aviva, Haberlova, Jana
Published in Frontiers in neurology (13.10.2021)
Published in Frontiers in neurology (13.10.2021)
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Mutations in the LMNA gene do not cause axonal CMT in Czech patients
Lassuthová, Petra, Baránková, Lucia, Haberlová, Jana, Mazanec, Radim, Wallace, Andrew, Huehne, Kathrin, Rautenstrauss, Bernd, Seeman, Pavel
Published in Journal of human genetics (01.06.2009)
Published in Journal of human genetics (01.06.2009)
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome
Sedláčková, Jana, Vondráček, Petr, Hermanová, Markéta, Zámečník, Josef, Hrubá, Zuzana, Haberlová, Jana, Kraus, Josef, Maříková, Tat’ána, Hedvičáková, Petra, Voháňka, Stanislav, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.11.2009)
Published in Neuromuscular disorders : NMD (01.11.2009)
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., Carlier, Robert Y.
Published in Journal of neurology (2020)
Published in Journal of neurology (2020)
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Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
Šedivá, Marie, Laššuthová, Petra, Zámečník, Josef, Sedláčková, Lucie, Seeman, Pavel, Haberlová, Jana
Published in European journal of medical genetics (01.01.2020)
Published in European journal of medical genetics (01.01.2020)
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