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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. [electronic resource] by
- Skálová, Daniela
- Zídková, Jana
- Voháňka, Stanislav
- Mazanec, Radim
- Mušová, Zuzana
- Vondráček, Petr
- Mrázová, Lenka
- Kraus, Josef
- Réblová, Kamila
- Fajkusová, Lenka
Producer: 20141009
In:
PloS one vol. 8
Availability: No items available.
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Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. [electronic resource] by
- Chrobáková, Tána
- Hermanová, Markéta
- Kroupová, Iva
- Vondrácek, Petr
- Maríková, Tat'ána
- Mazanec, Radim
- Zámecník, Josef
- Stanek, Jan
- Havlová, Miluse
- Fajkusová, Lenka
Producer: 20041230
In:
Neuromuscular disorders : NMD vol. 14
Availability: No items available.
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12.
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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. [electronic resource] by
- Zapletalová, Eva
- Hedvicáková, Petra
- Kozák, Libor
- Vondrácek, Petr
- Gaillyová, Renata
- Maríková, Tat'ána
- Kalina, Zdenek
- Jüttnerová, Vera
- Fajkus, Jirí
- Fajkusová, Lenka
Producer: 20070726
In:
Neuromuscular disorders : NMD vol. 17
Availability: No items available.
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome. [electronic resource] by
- Sedlácková, Jana
- Vondrácek, Petr
- Hermanová, Markéta
- Zámecník, Josef
- Hrubá, Zuzana
- Haberlová, Jana
- Kraus, Josef
- Maríková, Tat'ána
- Hedvicáková, Petra
- Vohánka, Stanislav
- Fajkusová, Lenka
Producer: 20100105
In:
Neuromuscular disorders : NMD vol. 19
Availability: No items available.
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15.
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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. [electronic resource] by
- Stehlíková, Kristýna
- Zapletalová, Eva
- Sedlácková, Jana
- Hermanová, Markéta
- Vondrácek, Petr
- Maríková, Tat'ána
- Mazanec, Radim
- Zámecník, Josef
- Vohánka, Stanislav
- Fajkus, Jirí
- Fajkusová, Lenka
Producer: 20070416
In:
Neuromuscular disorders : NMD vol. 17
Availability: No items available.
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16.
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Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A). [electronic resource] by
- Jelinkova, Sarka
- Markova, Lenka
- Pesl, Martin
- Valáškova, Iveta
- Makaturová, Eva
- Jurikova, Lenka
- Vondracek, Petr
- Lacampagne, Alain
- Dvorak, Petr
- Meli, Albano C
- Rotrekl, Vladimir
Producer: 20200506
In:
Stem cell research vol. 40
Availability: No items available.
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17.
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Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. [electronic resource] by
- Hermanová, Markéta
- Zapletalová, Eva
- Sedlácková, Jana
- Chrobáková, Tána
- Letocha, Ondrej
- Kroupová, Iva
- Zámecník, Josef
- Vondrácek, Petr
- Mazanec, Radim
- Maríková, Tatána
- Vohánka, Stanislav
- Fajkusová, Lenka
Producer: 20060412
In:
Muscle & nerve vol. 33
Availability: No items available.
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18.
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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. [electronic resource] by
- 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
Producer: 20141209
In:
BMC neurology vol. 14
Availability: No items available.
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19.
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Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. [electronic resource] by
- Rotthier, Annelies
- Auer-Grumbach, Michaela
- Janssens, Katrien
- Baets, Jonathan
- Penno, Anke
- Almeida-Souza, Leonardo
- Van Hoof, Kim
- Jacobs, An
- De Vriendt, Els
- Schlotter-Weigel, Beate
- Löscher, Wolfgang
- Vondráček, Petr
- Seeman, Pavel
- De Jonghe, Peter
- Van Dijck, Patrick
- Jordanova, Albena
- Hornemann, Thorsten
- Timmerman, Vincent
Producer: 20101028
In:
American journal of human genetics vol. 87
Availability: No items available.
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20.
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. [electronic resource] by
- Cirak, Sebahattin
- Foley, Aileen Reghan
- Herrmann, Ralf
- Willer, Tobias
- Yau, Shu
- Stevens, Elizabeth
- Torelli, Silvia
- Brodd, Lina
- Kamynina, Alisa
- Vondracek, Petr
- Roper, Helen
- Longman, Cheryl
- Korinthenberg, Rudolf
- Marrosu, Gianni
- Nürnberg, Peter
- Michele, Daniel E
- Plagnol, Vincent
- Hurles, Matt
- Moore, Steven A
- Sewry, Caroline A
- Campbell, Kevin P
- Voit, Thomas
- Muntoni, Francesco
Producer: 20130423
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
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