CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Journal Article
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease
Jahnová, Helena, Poupětová, Helena, Jirečková, Jitka, Vlášková, Hana, Košťálová, Eva, Mazanec, Radim, Zumrová, Alena, Mečíř, Petr, Mušová, Zuzana, Magner, Martin
Published in Journal of neurology (01.08.2019)
Published in Journal of neurology (01.08.2019)
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Journal Article
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel
Skálová, Daniela, Zídková, Jana, Voháňka, Stanislav, Mazanec, Radim, Mušová, Zuzana, Vondráček, Petr, Mrázová, Lenka, Kraus, Josef, Réblová, Kamila, Fajkusová, Lenka
Published in PloS one (11.12.2013)
Published in PloS one (11.12.2013)
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Journal Article
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
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 (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Journal Article
Myotonic dystrophy type 2 and multiple sclerosis: Case report
Ehler, Edvard, Novotná, Alena, Mareš, Miroslav, Mušová, Zuzana, Mrklovský, Milan
Published in Clinical neurology and neurosurgery (01.12.2012)
Published in Clinical neurology and neurosurgery (01.12.2012)
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Journal Article
Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome
Tesar, Adam, Matej, Radoslav, Kukal, Jaromir, Johanidesova, Silvie, Rektorova, Irena, Vyhnalek, Martin, Keller, Jiri, Eliasova, Ilona, Parobkova, Eva, Smetakova, Magdalena, Musova, Zuzana, Rusina, Robert
Published in Annals of neurology (01.11.2019)
Published in Annals of neurology (01.11.2019)
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Journal Article
Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
Stovickova, Lucie, Hansikova, Hana, Hanzalova, Jitka, Musova, Zuzana, Semjonov, Valerij, Stovicek, Pavel, Hadzic, Haris, Novotna, Ludmila, Simcik, Martin, Strnad, Pavel, Serbina, Anastaziia, Karamazovova, Simona, Schwabova Paulasova, Jaroslava, Vyhnalek, Martin, Krsek, Pavel, Zumrova, Alena
Published in Journal of neurology (01.06.2024)
Published in Journal of neurology (01.06.2024)
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Journal Article
Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman
Zumrová, Alena, Mazanec, Radim, Vyhnálek, Martin, Krepelová, Anna, Musová, Zuzana, Krilová, Stefanie, Appltová, Ludmila, Havlovicová, Markéta
Published in Neuro-endocrinology letters (01.02.2005)
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Published in Neuro-endocrinology letters (01.02.2005)
Journal Article
CANVAS – a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic
Danková, Michaela, Mušová, Zuzana, Jeřábek, Jaroslav, Paulasová Schwabová, Jaroslava, Zumrová, Alena, Vyhnálková, Emílie, Skalská, Silvia, Mazanec, Radim, Vyhnálek, Martin
Published in Česká a Slovenská neurologie a neurochirurgie (31.08.2021)
Published in Česká a Slovenská neurologie a neurochirurgie (31.08.2021)
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Journal Article
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
Musova, Zuzana, Kaiserova, Michaela, Kriegova, Eva, Fillerova, Regina, Vasovcak, Peter, Santava, Alena, Mensikova, Katerina, Zumrova, Alena, Krepelova, Anna, Sedlacek, Zdenek, Kanovsky, Petr
Published in Cerebellum (London, England) (01.06.2014)
Published in Cerebellum (London, England) (01.06.2014)
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Journal Article
Expanded DMPKrepeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPKrepeats at screening of 330 children with autism
Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejkal, David, Sedlacek, Zdenek
Published in Neuropsychiatric disease and treatment (01.01.2016)
Published in Neuropsychiatric disease and treatment (01.01.2016)
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Journal Article
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
Musova, Zuzana, Sedlacek, Zdenek, Mazanec, Radim, Klempir, Jiri, Roth, Jan, Plevova, Pavlina, Vyhnalek, Martin, Kopeckova, Marta, Apltova, Ludmila, Krepelova, Anna, Zumrova, Alena
Published in Cerebellum (London, England) (01.04.2013)
Published in Cerebellum (London, England) (01.04.2013)
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Journal Article
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek
Published in Neuropsychiatric disease and treatment (01.01.2016)
Published in Neuropsychiatric disease and treatment (01.01.2016)
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Journal Article
FMR1 gene expansion, large deletion of Xp, and skewed X‐inactivation in a girl with mental retardation and autism
Vazna, Alzbeta, Musova, Zuzana, Vlckova, Marketa, Novotna, Dhahuse, Dvorakova, Lenka, Hrdlicka, Michal, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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Journal Article
A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration
Musova, Zuzana, Hedvicakova, Petra, Mohrmann, Marketa, Tesarova, Marketa, Krepelova, Anna, Zeman, Jiri, Sedlacek, Zdenek
Published in Biochemical and biophysical research communications (18.08.2006)
Published in Biochemical and biophysical research communications (18.08.2006)
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Journal Article
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism
Vazna, Alzbeta, Musova, Zuzana, Vlckova, Marketa, Novotna, Dhahuse, Dvorakova, Lenka, Hrdlicka, Michal, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American Journal of Medical Genetics Part A (01.05.2010)
Published in American Journal of Medical Genetics Part A (01.05.2010)
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Report
Hereditární spinocerebelární ataxie - rozšíření molekulárně genetické diagnostiky s pokračující longitudinální multidisciplinární studií rodin pacientů
Zumrová, Alena; Mušová, Zuzana; Schwabová, Jaroslava; Kopečková, Marta; Kraus, Josef; Maříková, Taťána; Mazanec, Radim; Zárubová, Kateřina; Univerzita Karlova
Year of Publication 2012
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Year of Publication 2012
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