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Springer Nature5
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Human Genetics4
Journal of Molecular Medicine1
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Eric Leguern results 5 · Newest (Page 1/1, per page 25)
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 12 · Springer
Sandra Martins; Ashraf Yahia; Inês P. D. Costa; Hassab E. Siddig; Rayan Abubaker; Mahmoud Koko; Marc Corral-Juan; Antoni Matilla-Dueñas; Alexis Brice; Alexandra Durr; Eric Leguern; Laura P. W. Ranum; António Amorim; Liena E. O. Elsayed; Giovanni Stevanin; Jorge Sequeiros
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the first diagnosed in Sudan to our...
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2NARA Subscribed
Human Genetics · 2016 · Vol. 135 · Issue 10 · Springer
Lyndal Henden; Saskia Freytag; Zaid Afawi; Sara Baldassari; Samuel F. Berkovic; Francesca Bisulli; Laura Canafoglia; Giorgio Casari; Douglas Ewan Crompton; Christel Depienne; Jozef Gecz; Renzo Guerrini; Ingo Helbig; Edouard Hirsch; Boris Keren; Karl Martin Klein; Pierre Labauge; Eric LeGuern; Laura Licchetta; Davide Mei; Caroline Nava; Tommaso Pippucci; Gabrielle Rudolf; Ingrid Eileen Scheffer; Pasquale Striano; Paolo Tinuper; Federico Zara; Mark Corbett; Melanie Bahlo
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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolismNARA Subscribed
Journal of Molecular Medicine · 2011 · Vol. 89 · Issue 9 · Springer
Philippe Couarch; Santiago Vernia; Isabelle Gourfinkel-An; Gaëtan Lesca; Svetlana Gataullina; Estelle Fedirko; Oriane Trouillard; Christel Depienne; Olivier Dulac; Dominique Steschenko; Eric Leguern; Pascual Sanz; Stéphanie Baulac
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutationsNARA Subscribed
Human Genetics · 2002 · Vol. 111 · Issue 3 · Springer
Bruno Moulard; Pierre Genton; Djamel Grid; Marc Jeanpierre; Réda Ouazzani; Amel Mrabet; Mike Morris; Eric LeGuern; Charlotte Dravet; François Mauguière; Barbara Utermann; Michel Baldy-Moulinier; Halima Belaidi; Françoise Bertran; Arnaud Biraben; André Ali Chérif; Taieb Chkili; Arielle Crespel; Françoise Darcel; Olivier Dulac; Christian Geny; Véronique Humbert-Claude; Philippe Kassiotis; Catherine Buresi; Alain Malafosse
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The human neuregulin-2 ( NRG2 ) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5qNARA Subscribed
Human Genetics · 1999 · Vol. 104 · Issue 4 · Springer
H. Z. Ring; H. Chang; Angèle Guilbot; Alexis Brice; Eric LeGuern; Uta Francke
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