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Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
by
Musova, Zuzana
,
Mazanec, Radim
,
Krepelova, Anna
,
Ehler, Edvard
,
Vales, Jiri
,
Jaklova, Radka
,
Prochazka, Tomas
,
Koukal, Petr
,
Marikova, Tatana
,
Kraus, Josef
,
Havlovicova, Marketa
,
Sedlacek, Zdenek
Published in
American journal of medical genetics. Part A
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Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene
by
Laššuthová, Petra, MD
,
Baránková, Lucia, MD
,
Kraus, Josef, MD, CSc
,
Maříková, Tat'ána, MD, CSc
,
Seeman, Pavel, MD, PhD
Published in
Pediatric neurology
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Array comparative genome hybridization in patients with developmental delay: two example cases
by
Hancarova, Miroslava
,
Drabova, Jana
,
Zmitkova, Zuzana
,
Vlckova, Marketa
,
Hedvicakova, Petra
,
Novotna, Drahuse
,
Vlckova, Zdenka
,
Vejvalkova, Sarka
,
Marikova, Tatana
,
Sedlacek, Zdenek
Published in
New biotechnology
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Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
by
Hermanová, Markéta
,
Zapletalová, Eva
,
Sedláčková, Jana
,
Chrobáková, Táňa
,
Letocha, Ondřej
,
Kroupová, Iva
,
Zámečník, Josef
,
Vondráček, Petr
,
Mazanec, Radim
,
Maříková, Taťána
,
Voháňka, Stanislav
,
Fajkusová, Lenka
Published in
Muscle & nerve
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Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
by
Bendova, Sarka
,
Krepelova, Anna
,
Petrak, Borivoj
,
Kinstova, Lenka
,
Musova, Zuzana
,
Rausova, Eva
,
Marikova, Tatana
Published in
Journal of molecular neuroscience
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome
by
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
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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
by
Zapletalová, Eva
,
Hedvičáková, Petra
,
Kozák, Libor
,
Vondráček, Petr
,
Gaillyová, Renata
,
Mařı´ková, Tat’ána
,
Kalina, Zdeněk
,
Jüttnerová, Věra
,
Fajkus, Jiřı
,
Fajkusová, Lenka
Published in
Neuromuscular disorders : NMD
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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay
by
Stehlíková, Kristýna
,
Zapletalová, Eva
,
Sedláčková, Jana
,
Hermanová, Markéta
,
Vondráček, Petr
,
Maříková, Tat’ána
,
Mazanec, Radim
,
Zámečník, Josef
,
Voháňka, Stanislav
,
Fajkus, Jiří
,
Fajkusová, Lenka
Published in
Neuromuscular disorders : NMD
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Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
by
Chrobáková, Táňa
,
Hermanová, Markéta
,
Kroupová, Iva
,
Vondráček, Petr
,
Mařı́ková, Tat'ána
,
Mazanec, Radim
,
Zámečnı́k, Josef
,
Staněk, Jan
,
Havlová, Miluše
,
Fajkusová, Lenka
Published in
Neuromuscular disorders : NMD
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