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Showing 1–4 of 4 results
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Research |
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
- anna-elina.lehesjoki@helsinki.fi
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Research |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
- anna-elina.lehesjoki@helsinki.fi
- Mikko Muona
- , Samuel F Berkovic
- , Leanne M Dibbens
- , Karen L Oliver
- , Snezana Maljevic
- , Marta A Bayly
- , Tarja Joensuu
- , Laura Canafoglia
- , Silvana Franceschetti
- , Roberto Michelucci
- , Salla Markkinen
- , Sarah E Heron
- , Michael S Hildebrand
- , Eva Andermann
- , Frederick Andermann
- , Antonio Gambardella
- , Paolo Tinuper
- , Laura Licchetta
- , Ingrid E Scheffer
- , Chiara Criscuolo
- , Alessandro Filla
- , Edoardo Ferlazzo
- , Jamil Ahmad
- , Adeel Ahmad
- , Betul Baykan
- , Edith Said
- , Meral Topcu
- , Patrizia Riguzzi
- , Mary D King
- , Cigdem Ozkara
- , Danielle M Andrade
- , Bernt A Engelsen
- , Arielle Crespel
- , Matthias Lindenau
- , Ebba Lohmann
- , Veronica Saletti
- , João Massano
- , Michael Privitera
- , Alberto J Espay
- , Birgit Kauffmann
- , Michael Duchowny
- , Rikke S Møller
- , Rachel Straussberg
- , Zaid Afawi
- , Bruria Ben-Zeev
- , Kaitlin E Samocha
- , Mark J Daly
- , Steven Petrou
- , Holger Lerche
- , Aarno Palotie
- & Anna-Elina Lehesjoki
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Research |
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
- anna-elina.lehesjoki@helsinki.fi
- Anna-Kaisa Anttonen
- , Ibrahim Mahjneh
- , Riikka H Hämäläinen
- , Clotilde Lagier-Tourenne
- , Outi Kopra
- , Laura Waris
- , Mikko Anttonen
- , Tarja Joensuu
- , Hannu Kalimo
- , Anders Paetau
- , Lisbeth Tranebjaerg
- , Denys Chaigne
- , Michel Koenig
- , Orvar Eeg-Olofsson
- , Bjarne Udd
- , Mirja Somer
- , Hannu Somer
- & Anna-Elina Lehesjoki
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Research |
Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium
- anna-elina.lehesjoki@helsinki.fi
