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| 1 | A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease显示文摘 | Cécile Cazeneuve Channkanira San Salah A. Ibrahim Maowia M. Mukhtar Musa M. Kheir Eric LeGuern Alexis Brice Mustafa A. Salih | 2009 | neurogenetics2009，，3： | 1 |
| 2 | Charcot-Marie-Tooth Disease with intermediate motor nerve conduction velocities:characterization of 14 Cx32 mutations in 35 families显示文摘 | Rouger H LeGuern E Birouk N | 1997 | Human Mutation1997，10，： | 1 |
| 3 | Structure of miniature swine class Ⅱ DRB genes:conservation of hypervariable amino acid residues between distantly related mammalian species显示文摘 | Germana S Hirsch F Pratt K LeGuern C Sachs D H | 1990 | Proceedings of the National Academy of Sciences USA1990，87，： | 1 |
| 4 | Churg-Strauss syndrome revealed by granulomatous acute pericarditis: two case reports and a review of the literature显示文摘 | Agard C Rendu E Leguern V | 2007 | Semin Arthritis Rheum2007，36，6： | 1 |
| 5 | PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder 显示文摘 | Depienne E LeGuern E | 2012 | Hum Mutat2012，33，： | 1 |
| 6 | Levetiracetam in progressive myoclonic epilepsy:an exploratory study in 9 patients显示文摘 | Grest C Dupont S Leguern E | 2004 | Neurology2004，62，： | 1 |
| 7 | Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 显示文摘 | LeGuern E Guilbot A Kessali Ⅲ | 1996 | Hum Mol Genet1996，5，10： | 1 |
| 8 | Levetiracetam in Progressive Myoclonic Epilepsy:an Exploratory Study in 9 Patients显示文摘 | CREST C DUPONT S LEGUERN E | 2004 | Neurology(S0028-3878)2004，62，4： | 1 |
| 9 | Inhibition by riluzole of electrophysiological responses mediated by rate kainite and NMDA receptors expressed in xenopus oocytes显示文摘 | LeGuern J Canton T | 1993 | Eur J Pharmacol1993，235，： | 1 |
| 10 | Characterization of a polymorphism of CD4 in miniature swine 显示文摘 | Sundt T LeGuern C Germana S | 1992 | J Immunol1992，148，： | 1 |
| 11 | PCDHI9-related infantile epileptic encephalopathy: an unusual X -linked inheritance disorder 显示文摘 | Depienne C LeGuern E | 2012 | Hum Mutat2012，33，4： | 1 |
| 12 | Churg-Strauss syndrome revealed by granulomatous acute pericarditis: two case reports and a review of the literature显示文摘 | Agard C Rendu E Leguern V | 2007 | Semin Arthritis Rheum2007，36，6： | 1 |
| 13 | K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy显示文摘 | El Helou J Navarro V Depienne C Fedirko E LeGuern E Baulac M | | 0，，： | 1 |
| 14 | Class Ⅱ genes of two allelic class Ⅱ DQB eDNA clones显示文摘 | Gustafsson K LeGuern C Hirsch F | 1990 | J Immunol1990，145，： | 1 |
| 15 | 2 deletion 显示文摘 | Gouider R LeGuern E Gugenheim M Clinical electro-physiolgical and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a Chromosome 17 pll | 1995 | Neurology1995，45，： | 1 |
| 16 | X-linked Charcot-Marie-Tooth disease with connexin32 mutations:clinical and electrophysiologic study显示文摘 | LeGuern E Maisonobe T | 1998 | Neurology1998，50，： | 1 |
| 17 | The mouse Igh-la and Igh-lb H chain constant regions are derived from two distinct isotypic genes显示文摘 | Jouvin-Marche E Morgado MG Leguern C | 1989 | Immunogenetics1989，29，2： | 1 |
| 18 | Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism显示文摘Lafora disease is a fatal autosomal recessive formof progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence.The two genes known to be involved in Lafora disease are EPM2 A and NHLRC1(EPM2B). The EPM2 A gene encodes laforin,a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. Here, we report three Lafora families with two novel pathogenic mutations(C46Y and L261P) and two recurrent mutations(P69A and D146N) in NHLRC1. Investigation of their functional consequences in cultured mammalian cells revealed that malin C46 Y, malin P69 A, malin D146 N, and malin L261 P mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions(Lafora bodies) present in patients with Lafora disease. | Philippe Couarch Santiago Vernia Isabelle Gourfinkel-An Ga tan Lesca Svetlana Gataullina Estelle Fedirko Oriane Trouillard Christel Depienne Olivier Dulac Dominique Steschenko Eric Leguern Pascual Sanz Stéphanie Baulac | 2015 | 世界最新医学信息文摘2015，15，5： | 0 |
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