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Cortical reactivity in progressive myoclonus epilepsy

Referentgranskad
Karhu, J.; Hari, R.; Paetau, R.; Kajola, M.; Mervaala, E.
Electroencephalography and Clinical Neurophysiology1994

Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy

Referentgranskad
Forss, Nina; Silén, Teija; Karjalainen, Tero
Annals of Neurology2001

Progressive myoclonus epilepsy associated with SACS gene mutations

Referentgranskad
Öppen tillgång
DOI
10.1212/NXG.0000000000000083
Nascimento, Fábio A.; Canafoglia, Laura; Aljaafari, Danah; Muona, Mikko Sakari; Lehesjoki, Anna-Elin...
Neurology : Genetics2016

Unverricht–Lundborg Disease (or Progressive Myoclonus Epilepsy Type 1

Referentgranskad
DOI
10.1017/9781108355209.047
Kälviäinen, Reetta; Lehesjoki, Anna-Elina
Cambridge University Press2019

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Referentgranskad
DOI
10.1136/jmedgenet-2012-100859
Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; M...
Journal of medical genetics2012

Progressive Myoclonus Epilepsies

Referentgranskad
DOI
10.1055/s-0035-1552620
Kälviäinen Reetta
Seminars in neurology2015

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Referentgranskad
Öppen tillgång
DOI
10.1002/ana.25941
Mazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betul; Muona, Mikko; Joensuu, Tarja H.; C...
Annals of neurology2021

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Referentgranskad
DOI
10.1038/ng.3144
Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, M...
Nature genetics2015

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Referentgranskad
DOI
10.1093/brain/awt021
Lomax, Lysa Boisse; Bayly, Marta A.; Hjalgrim, Helle; Moller, Rikke S.; Vlaar, Annemarie M.; Aaberg,...
Brain : a journal of neurology2013

North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Referentgranskad
DOI
10.1093/brain/awt021
Lomax, Lysa Boisse; Bayly, Marta A.; Hjalgrim, Helle; Moller, Rikke S.; Vlaar, Annemarie M.; Aaberg,...
Brain2013

Cortical reactivity in progressive myoclonus epilepsy

Referentgranskad
1994

Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy

Referentgranskad
2001

Progressive myoclonus epilepsy associated with SACS gene mutations

Referentgranskad
Öppen tillgång
DOI
10.1212/NXG.0000000000000083
2016

Unverricht–Lundborg Disease (or Progressive Myoclonus Epilepsy Type 1

Referentgranskad
DOI
10.1017/9781108355209.047
2019

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Referentgranskad
DOI
10.1136/jmedgenet-2012-100859
2012

Progressive Myoclonus Epilepsies

Referentgranskad
DOI
10.1055/s-0035-1552620
2015

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Referentgranskad
Öppen tillgång
DOI
10.1002/ana.25941
2021

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Referentgranskad
DOI
10.1038/ng.3144
2015

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Referentgranskad
DOI
10.1093/brain/awt021
2013

North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Referentgranskad
DOI
10.1093/brain/awt021
2013