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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. / Lesca, Gaetan; Boutry-Kryza, Nadia; de Toffol, Bertrand; Milh, Mathieu; Steschenko, Dominique; Lemesle-Martin, Martine; Maillard, Louis; Foletti, Giovanni; Rudolf, Gabrielle; Nielsen, Jørgen Erik; á Rogvi-Hansen, Bjarke; Erdal, Jesper; Mancini, Josette; Thauvin-Robinet, Christel; M'Rrabet, Amel; Ville, Dorothée; Szepetowski, Pierre; Raffo, Emmanuel; Hirsch, Edouard; Ryvlin, Philippe; Calender, Alain; Genton, Pierre.
I:
Epilepsia, Bind 51, Nr. 9, 01.09.2010, s. 1691-8.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Lesca, G, Boutry-Kryza, N, de Toffol, B, Milh, M, Steschenko, D, Lemesle-Martin, M, Maillard, L, Foletti, G, Rudolf, G
, Nielsen, JE, á Rogvi-Hansen, B, Erdal, J, Mancini, J, Thauvin-Robinet, C, M'Rrabet, A, Ville, D, Szepetowski, P, Raffo, E, Hirsch, E, Ryvlin, P, Calender, A & Genton, P 2010, '
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease',
Epilepsia, bind 51, nr. 9, s. 1691-8.
https://doi.org/10.1111/j.1528-1167.2010.02692.xAPA
Lesca, G., Boutry-Kryza, N., de Toffol, B., Milh, M., Steschenko, D., Lemesle-Martin, M., Maillard, L., Foletti, G., Rudolf, G.
, Nielsen, J. E., á Rogvi-Hansen, B., Erdal, J., Mancini, J., Thauvin-Robinet, C., M'Rrabet, A., Ville, D., Szepetowski, P., Raffo, E., Hirsch, E., ... Genton, P. (2010).
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia,
51(9), 1691-8.
https://doi.org/10.1111/j.1528-1167.2010.02692.xVancouver
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M o.a.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia. 2010 sep. 1;51(9):1691-8.
https://doi.org/10.1111/j.1528-1167.2010.02692.xAuthor
Lesca, Gaetan ; Boutry-Kryza, Nadia ; de Toffol, Bertrand ; Milh, Mathieu ; Steschenko, Dominique ; Lemesle-Martin, Martine ; Maillard, Louis ; Foletti, Giovanni ; Rudolf, Gabrielle ; Nielsen, Jørgen Erik ; á Rogvi-Hansen, Bjarke ; Erdal, Jesper ; Mancini, Josette ; Thauvin-Robinet, Christel ; M'Rrabet, Amel ; Ville, Dorothée ; Szepetowski, Pierre ; Raffo, Emmanuel ; Hirsch, Edouard ; Ryvlin, Philippe ; Calender, Alain ; Genton, Pierre. / Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. I: Epilepsia. 2010 ; Bind 51, Nr. 9. s. 1691-8.
Bibtex
@article{74eab03907374f8da90de76ee2ae38e7,
title = "Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease",
abstract = "Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.",
author = "Gaetan Lesca and Nadia Boutry-Kryza and {de Toffol}, Bertrand and Mathieu Milh and Dominique Steschenko and Martine Lemesle-Martin and Louis Maillard and Giovanni Foletti and Gabrielle Rudolf and Nielsen, {J{\o}rgen Erik} and {{\'a} Rogvi-Hansen}, Bjarke and Jesper Erdal and Josette Mancini and Christel Thauvin-Robinet and Amel M'Rrabet and Doroth{\'e}e Ville and Pierre Szepetowski and Emmanuel Raffo and Edouard Hirsch and Philippe Ryvlin and Alain Calender and Pierre Genton",
year = "2010",
month = sep,
day = "1",
doi = "http://dx.doi.org/10.1111/j.1528-1167.2010.02692.x",
language = "English",
volume = "51",
pages = "1691--8",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell",
number = "9",
}
RIS
TY - JOUR
T1 - Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
AU - Lesca, Gaetan
AU - Boutry-Kryza, Nadia
AU - de Toffol, Bertrand
AU - Milh, Mathieu
AU - Steschenko, Dominique
AU - Lemesle-Martin, Martine
AU - Maillard, Louis
AU - Foletti, Giovanni
AU - Rudolf, Gabrielle
AU - Nielsen, Jørgen Erik
AU - á Rogvi-Hansen, Bjarke
AU - Erdal, Jesper
AU - Mancini, Josette
AU - Thauvin-Robinet, Christel
AU - M'Rrabet, Amel
AU - Ville, Dorothée
AU - Szepetowski, Pierre
AU - Raffo, Emmanuel
AU - Hirsch, Edouard
AU - Ryvlin, Philippe
AU - Calender, Alain
AU - Genton, Pierre
PY - 2010/9/1
Y1 - 2010/9/1
N2 - Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.
AB - Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.
U2 - http://dx.doi.org/10.1111/j.1528-1167.2010.02692.x
DO - http://dx.doi.org/10.1111/j.1528-1167.2010.02692.x
M3 - Journal article
VL - 51
SP - 1691
EP - 1698
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 9
ER -
