Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
Oliver, Karen L., Franceschetti, Silvana, Milligan, Carol J., Muona, Mikko, Mandelstam, Simone A., Canafoglia, Laura, Boguszewska‐Chachulska, Anna M., Korczyn, Amos D., Bisulli, Francesca, Bonaventura, Carlo, Ragona, Francesca, Michelucci, Roberto, Ben‐Zeev, Bruria, Straussberg, Rachel, Panzica, Ferruccio, Massano, João, Friedman, Daniel, Crespel, Arielle, Engelsen, Bernt A., Andermann, Frederick, Andermann, Eva, Spodar, Krystyna, Lasek‐Bal, Anetta, Riguzzi, Patrizia, Pasini, Elena, Tinuper, Paolo, Licchetta, Laura, Gardella, Elena, Lindenau, Matthias, Wulf, Annette, Møller, Rikke S., Benninger, Felix, Afawi, Zaid, Rubboli, Guido, Reid, Christopher A., Maljevic, Snezana, Lerche, Holger, Lehesjoki, Anna‐Elina, Petrou, Steven, Berkovic, Samuel F.
Published in Annals of neurology (01.05.2017)
Published in Annals of neurology (01.05.2017)
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Journal Article
Myoclonus epilepsy and ataxia due to KCNC 1 mutation: Analysis of 20 cases and K + channel properties
Oliver, Karen L., Franceschetti, Silvana, Milligan, Carol J., Muona, Mikko, Mandelstam, Simone A., Canafoglia, Laura, Boguszewska‐Chachulska, Anna M., Korczyn, Amos D., Bisulli, Francesca, Di Bonaventura, Carlo, Ragona, Francesca, Michelucci, Roberto, Ben‐Zeev, Bruria, Straussberg, Rachel, Panzica, Ferruccio, Massano, João, Friedman, Daniel, Crespel, Arielle, Engelsen, Bernt A., Andermann, Frederick, Andermann, Eva, Spodar, Krystyna, Lasek‐Bal, Anetta, Riguzzi, Patrizia, Pasini, Elena, Tinuper, Paolo, Licchetta, Laura, Gardella, Elena, Lindenau, Matthias, Wulf, Annette, Møller, Rikke S., Benninger, Felix, Afawi, Zaid, Rubboli, Guido, Reid, Christopher A., Maljevic, Snezana, Lerche, Holger, Lehesjoki, Anna‐Elina, Petrou, Steven, Berkovic, Samuel F.
Published in Annals of neurology (01.05.2017)
Published in Annals of neurology (01.05.2017)
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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Małunowicz, Ewa, Chrzanowska, Krystyna, Latos-Bieleńska, Anna, Krajewska-Walasek, Małgorzata
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)
Gajecka, Marzena, Saadeh, Reem, Mackay, Katherine L., Glotzbach, Caron D., Spodar, Krystyna, Chitayat, David, Shaffer, Lisa G.
Published in American journal of medical genetics. Part A (01.11.2008)
Published in American journal of medical genetics. Part A (01.11.2008)
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Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome
Jezela-Stanek, Aleksandra, Dobrzańska, Anna, Maksym-Gasiorek, Dorota, Trzeciakowski, Wojciech, Gutkowska, Anna, Olczak-Kowalczyk, Dorota, Gajdulewicz, Maria, Spodar, Krystyna, Czech-Kowalska, Justyna, Krajewska-Walasek, Małgorzata
Published in Clinical dysmorphology (01.01.2009)
Published in Clinical dysmorphology (01.01.2009)
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