Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sjoukje S Polet"'
Autor:
Sjoukje S Polet, Tom J. de Koning, Jenke A Gorter, Roald A. Lambrechts, Marina. A. J. de Koning-Tijssen, Ody C. M. Sibon, Lisa van Ninhuys, Nicola A. Grzeschik, Alejandra Hernandez-Pichardo
Publikováno v:
Neuroscience, 423, 1-11. PERGAMON-ELSEVIER SCIENCE LTD
Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6105659111e9609c65789a097f9a525
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
Autor:
Jeroen J de Vries, E. Brusse, Gea Drost, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Martje E. van Egmond, Sjoukje S Polet, Oebele F. Brouwer, Marina A. J. Tijssen, Lisette H. Koens, Tom J. de Koning, David G. Anderson, Deborah A Sival
Publikováno v:
Parkinsonism & Related Disorders, 72, pp. 44-48
Parkinsonism and Related Disorders, 72, 44-48. Elsevier
Parkinsonism & Related Disorders, 72, 44-48
Parkinsonism & Related Disorders, 72, 44-48. Elsevier
Parkinsonism and Related Disorders, 72, 44-48. Elsevier
Parkinsonism & Related Disorders, 72, 44-48
Parkinsonism & Related Disorders, 72, 44-48. Elsevier
INTRODUCTION: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c14856971225a9a8268139c20bd4b23
https://hdl.handle.net/2066/218550
https://hdl.handle.net/2066/218550
