Haberlova, Jana: search on Z-Library

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1

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 2.30 MB

2019

2

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, R

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

3

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

Dana Brožková, Radim Mazanec, Zdeněk Rychlý, Jana Haberlová, Jiří Böhm, Jan Staněk, Pavlína Plevová, Jana Lisoňová, Jana Sabová, Iva Sakmaryová, Pavel Seeman

Journal:

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

4

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Lassuthova, Petra, Šišková, Dana, Haberlová, Jana, Sakmaryová, Iva, Filouš, Aleš, Seeman, Pavel

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 936 KB

english, 2014

5

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Laššuthová, Petra, Šafka Brožková, Dana, Krůtová, Marcela, Neupauerová, Jana, Haberlová, Jana, Mazanec, Radim, Dřímal, Pavel, Seeman, Pavel

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 699 KB

english, 2016

6

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

Kincl, VladimÃr, PanovskÃ½, Roman, PeÅ¡l, Martin, MÃ¡chal, Jan, JuÅÃkovÃ¡, Lenka, HaberlovÃ¡, Jana, MasÃ¡rovÃ¡, Lucia

Journal:

Scientific Reports

Year:

2020

File:

PDF, 954 KB

2020

7

Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic

Kocova, Helena, Dvorackova, Olga, Vondracek, Petr, Haberlova, Jana

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 82 KB

english, 2014

8

Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

Brožková, Dana, Mazanec, Radim, Haberlová, Jana, Sakmaryová, Iva, Šubrt, Ivan, Seeman, Pavel

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 6.57 MB

english, 2010

9

Point mutations in Czech DMD/BMD patients and their phenotypic outcome

Jana Sedláčková, Petr Vondráček, Markéta Hermanová, Josef Zámečník, Zuzana Hrubá, Jana Haberlová, Josef Kraus, Tat’ána Maříková, Petra Hedvičáková, Stanislav Voháňka, Lenka Fajkusová

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 295 KB

english, 2009

10

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Stehlíková, Kristýna, Skálová, Daniela, Zídková, Jana, Haberlová, Jana, Voháňka, Stanislav, Mazanec, Radim, Mrázová, Lenka, Vondráček, Petr, Ošlejšková, Hana, Zámečník, Josef, Honzík, Tomáš, Zeman, Ji

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

11

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Sedláčková, Lucie, Laššuthová, Petra, Štěrbová, Katalin, Haberlová, Jana, Vyhnálková, Emílie, Neupauerová, Jana, Staněk, David, Šedivá, Marie, Kršek, Pavel, Seeman, Pavel

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 177 KB

english, 2018

12

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Laššuthová, Petra, Baránková, Lucia, Haberlová, Jana, Mazanec, Radim, Wallace, Andrew, Huehne, Kathrin, Rautenstrauss, Bernd, Seeman, Pavel

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 112 KB

english, 2009

13

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

Brožková, Dana Šafka, Haberlová, Jana, Mazanec, Radim, Laštůvková, Jana, Seeman, Pavel

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.00 MB

english, 2016

14

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janeck

Journal:

Year:

2015

Language:

english

File:

PDF, 577 KB

english, 2015

15

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Kirschner, Janbernd, Butoianu, Nina, Goemans, Nathalie, Haberlova, Jana, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, van der Pol, W. Ludo, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Zi

Journal:

European Journal of Paediatric Neurology

Year:

2020

File:

PDF, 593 KB

2020

16

Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease

Jana Haberlová, Pavel Seeman

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 65 KB

english, 2010

17

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Giacomucci, Giulia, Monforte, Mauro, DiazâManera, Jordi, Mul, Karlien, Fernandez TorrÃ³n, Roberto, Maggi, Lorenzo, Marini Bettolo, Chiara, Dahlqvist, Julia Rebecka, Haberlova, Jana, CamaÃ±o, Pilar,

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 12.89 MB

2020

18

Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations

Å afka BroÅ¾kovÃ¡, Dana, Stojkovic, Tanya, HaberlovÃ¡, Jana, Mazanec, Radim, Windhager, Reinhard, Fernandes Rosenegger, Paloma, Hacker, Sandra, ZÃ¼chner, Stephan, KochaÅski, Andrzej, LeonardâLouis,

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 7.68 MB

2020

19

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

Ivanova, Neviana, Claeys, Kristl G., Deconinck, Tine, Litvinenko, Ivan, Jordanova, Albena, Auer-Grumbach, Michaela, Haberlova, Jana, Löfgren, Ann, Smeyers, Gisele, Nelis, Eva, Mercelis, Rudy, Plecko,

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

20

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Schwabova, Jaroslava, Brozkova, Dana Safka, Petrak, Borivoj, Mojzisova, Mahulena, Pavlickova, Klara, Haberlova, Jana, Mrazkova, Lenka, Hedvicakova, Petra, Hornofova, Ludmila, Kaluzova, Marie, Fencl, F

Journal:

Journal of Neurogenetics

Year:

2013

Language:

english

File:

PDF, 523 KB

english, 2013

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