The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.

Authors: Golli, Tanja¹ (AUTHOR), Juříková, Lenka² (AUTHOR), Sejersen, Thomas³ (AUTHOR), Dixon, Craig⁴ (AUTHOR) craig@mass-team.com

Source: BMC Neurology. 2/21/2024, Vol. 24 Issue 1, p1-9. 9p.

Subject Terms: *DUCHENNE muscular dystrophy, *NONSENSE mutation, *DYSTROPHIN genes, *MEDICAL personnel, *PRODUCT attributes

Geographic Terms: GREECE, EASTERN Europe, ISRAEL

Prognostic factors and seizure outcome in posterior reversible encephalopathy syndrome (PRES) in children with hematological malignancies and bone marrow failure: A retrospective monocentric study

Authors: Danhofer, Pavlína, Tomečková, Michaela, Černá, Dáša, Zapletalová, Danica, Horák, Ondřej, Aulická, Štefánia, Juříková, Lenka, Domanský, Jiří, Kovalčíková, Petra, Pavlík, Tomáš, Štěrba, Jaroslav, Ošlejšková, Hana

Source: In Seizure: European Journal of Epilepsy November 2019 72:1-10

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.

Authors: Molnar, Maria Judit, Szabó, Léna, Vladacenco, Oana Aurelia, Cobzaru, Ana Maria, Dor, Talya, Dori, Amir, Papadimas, Georgios, Juříková, Lenka, Litvinenko, Ivan, Tournev, Ivailo, Dixon, Craig

Source: Orphanet Journal of Rare Diseases; 7/9/2024, Vol. 19 Issue 1, p1-13, 13p

Decreased Global Strains of LV in Asymptomatic Female Duchenne Muscular Dystrophy Gene Carriers Using CMR-FT

Authors: Masárová, Lucia, Mojica-Pisciotti, Mary Luz, Panovský, Roman, Kincl, Vladimír, Pešl, Martin, Opatřil, Lukáš, Máchal, Jan, Novák, Jan, Holeček, Tomáš, Juříková, Lenka, Feitová, Věra

Source: JACC.Cardiovascular imaging. 14(5):1070-1072

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150594730.0x000001&indx=1&recIds=ETOCvdc_100150594730.0x000001

Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.

Authors: 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

Source: Frontiers in Neurology; 2024, p1-11, 11p

Subject Terms: DUCHENNE muscular dystrophy, QUALITY of life, CARDIAC magnetic resonance imaging, PRESBYCUSIS

Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients

Authors: Panovský, Roman, Pešl, Martin, Máchal, Jan, Holeček, Tomáš, Feitová, Věra, Juříková, Lenka, Masárová, Lucia, Pešlová, Eva, Opatřil, Lukáš, Mojica-Pisciotti, Mary Luz, Kincl, Vladimír

Source: Orphanet journal of rare diseases. 16(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193336091.0x000001&indx=1&recIds=ETOCvdc_100193336091.0x000001

Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations.

Authors: Masárová, Lucia, Panovský, Roman, Pešl, Martin, Mary, Luz Mojica-Pisciotti, Holeček, Tomáš, Kincl, Vladimír, Juříková, Lenka, Máchal, Jan, Opatřil, Lukáš, Feitová, Věra

Source: Orphanet Journal of Rare Diseases; 10/19/2023, Vol. 18 Issue 1, p1-4, 4p

Subject Terms: DUCHENNE muscular dystrophy, GENETIC mutation, EXTRACELLULAR fluid

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

Authors: Kincl, Vladimír, Panovský, Roman, Pešl, Martin, Máchal, Jan, Juříková, Lenka, Haberlová, Jana, Masárová, Lucia

Source: Scientific reports. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188980297.0x000001&indx=1&recIds=ETOCvdc_100188980297.0x000001

Kongenitální svalové dystrofie. (Czech)

Alternate Title: Congenital muscular dystrophies. (English)

Authors: Havlín, Ondřej, Bálintová, Zdenka, Juříková, Lenka, Ošlejšková, Hana

Source: Neurologie Pro Praxi; Mar2022, Vol. 23 Issue 1, p18-23, 6p

Subject Terms: MUSCULAR dystrophy, MUSCLE diseases, MOLECULAR genetics, FACIOSCAPULOHUMERAL muscular dystrophy, VIGNETTES, HISTOPATHOLOGY

Možnosti časné diagnostiky Duchennovy svalové dystrofie - doporučení pro pediatry. (Czech)

Alternate Title: Possibilities of early diagnosis of Duchenne muscular dystrophy - recommendations for paediatricians. (English)

Authors: Juříková, Lenka

Source: Neurologie Pro Praxi; Nov2022, Vol. 23 Issue 6, p422-425, 3p

Subject Terms: DUCHENNE muscular dystrophy, CREATINE kinase, SHOULDER girdle, DYSTROPHIN genes, X chromosome

Neuropsychiatrické komorbidity u pacientů s Duchennovou svalovou dystrofií. (Czech)

Alternate Title: Neuropsychiatric comorbidities in patients with DMD. (English)

Authors: Juříková, Lenka, Danhofer, Pavlína, Bálintová, Zdenka, Pejčochová, Jana, Ošlejšková, Hana

Source: Neurologie Pro Praxi; Mar2022, Vol. 23 Issue 1, p33-35, 3p

Subject Terms: BECKER muscular dystrophy, AUTISM spectrum disorders, ATTENTION-deficit hyperactivity disorder, MUSCULAR dystrophy, OBSESSIVE-compulsive disorder, FACIOSCAPULOHUMERAL muscular dystrophy

Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)

Authors: Jelinkova, Sarka, Markova, Lenka, Pesl, Martin, Valáškova, Iveta, Makaturová, Eva, Jurikova, Lenka, Vondracek, Petr, Lacampagne, Alain, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir

Source: In Stem Cell Research October 2019 40