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Marie-Laure Moutard

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France

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TOP 3
C Garel; A Gelot; M Gonzales; D Heron; E Miné; Marie-Laure Moutard; J Rosenblatt; J M Jouannic
Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty.
Perrine Plouin; Anna Kaminska; Marie-Laure Moutard; Christine Soufflet
Developmental aspects of normal EEG.
Martin Breuss; Jamel Chelly; Tim Clausen; Nicholas Justin Cowan; Pierre Gressens; Thomas Gstrein; Matilda Haas; Julian Ik-Tsen Heng; Xavier Hubert Jaglin; Marie-Laure Moutard; Linh Ngo; Sandrine Passemard; Karine Poirier; Zhengdong Qu; Deepa Selvi Rani; Kathryn J H Robson; Kumarasamy Thangaraj; Guoling Tian; Alain Verloes; Yunli Xie; Nadia Bahi-Buisson; Andreas Braun; David A Keays
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

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All Publications

2013: C Garel; A Gelot; M Gonzales; D Heron; E Miné; Marie-Laure Moutard; J Rosenblatt; J M Jouannic
Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013;41(2):228-30.
2013: Perrine Plouin; Anna Kaminska; Marie-Laure Moutard; Christine Soufflet
Developmental aspects of normal EEG.
Handbook of clinical neurology 2013;111():79-85.
2012: Martin Breuss; Jamel Chelly; Tim Clausen; Nicholas Justin Cowan; Pierre Gressens; Thomas Gstrein; Matilda Haas; Julian Ik-Tsen Heng; Xavier Hubert Jaglin; Marie-Laure Moutard; Linh Ngo; Sandrine Passemard; Karine Poirier; Zhengdong Qu; Deepa Selvi Rani; Kathryn J H Robson; Kumarasamy Thangaraj; Guoling Tian; Alain Verloes; Yunli Xie; Nadia Bahi-Buisson; Andreas Braun; David A Keays
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Cell reports 2012;2(6):1554-62.
2012: Stephanie Gibert; Marie-Laurence Guye; Nicolas Louvet; Marie-Laure Moutard; Veronique Piat; Agnes Rigouzzo; Nada Sabourdin; Isabelle Constant
Epileptogenic effect of sevoflurane: determination of the minimal alveolar concentration of sevoflurane associated with major epileptoid signs in children.
Anesthesiology 2012;117(6):1253-61.
2012: Domitille Gras; loic Guillot; Bénédicte Héron; Laurence Jonard; Isabelle Kemlin; Jeanette Koht; Laurence Lion-François; Malek Louha; Jacques Motte; Marie-Laure Moutard; Michel Polak; Diana Rodriguez; Emmanuel Roze; Damien Sanlaville; Marilyn Tallot; Marie Vidailhet; Isabelle Vuillaume; Thierry Billette de Villemeur; Agnès Camuzat; Isabelle Caubel; Sandra Chantot-Bastaraud; Perrine Charles; David Devos; Alexandra Durr; Ralph Epaud; Cyril Goizet; Diane Doummar
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Journal of neurology, neurosurgery, and psychiatry 2012;83(10):956-62.
2012: Marie-Laure Moutard; Catherine Adamsbaum; Jean-Michel Baron; Josué Feingold; Antoinette Gélot; Arnaud Isapof; François Kieffer; Virginie Kieffer; Fanny Lewin; Thierry Billette de Villemeur
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).
Prenatal diagnosis 2012;32(3):277-83.
2012: Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):194-207.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
2011: A Dhouib; H Ducou le Pointe; Thierry Billette de Villemeur; E Blondiaux; F Chalard; J M Jouannic; Marie-Laure Moutard; C Garel
Correlation between pre- and postnatal cerebral magnetic resonance imaging.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011;38(2):170-8.
2010: Nadia Bahi-Buisson; Karine Poirier; Nathalie Boddaert; Catherine Fallet-Bianco; Nicola Specchio; Enrico Bertini; Okay Caglayan; Karine Lascelles; Caroline Elie; Jérôme Rambaud; Michel Baulac; Isabelle An; Patricia Dias; Vincent des Portes; Marie-Laure Moutard; Christine Soufflet; Monique El Maleh; Cherif Beldjord; Laurent Villard; Jamel Chelly
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain : a journal of neurology 2010;133(11):3194-209.
2009: Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie-Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie-Laure Moutard; Jean-Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Cherif Beldjord; Nadia Bahi-Buisson
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Archives of neurology 2009;66(8):1007-15.
2009: Aurore Carré; Gabor Szinnai; Mireille Castanet; Sylvia Sura-Trueba; Elodie Tron; Isabelle Broutin-L'Hermite; Pascal Barat; Cyril Goizet; Didier Lacombe; Marie-Laure Moutard; Christine Raybaud; Catherine Raynaud-Ravni; Serge Romana; Hubert Ythier; Juliane Léger; Michel Polak
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
Human molecular genetics 2009;18(12):2266-76.
2008: Jacqueline Fagard; Silvia Sacco; Chantal Yvenou; Erik Domellöf; Virginie Kieffer; Sylvie Tordjman; Marie-Laure Moutard; Pascal Mamassian
The role of the corpus callosum in the perception of reversible figures in children.
Vision research 2008;48(23-24):2451-5.
2008: Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie-Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Neurogenetics 2008;9(4):277-85.
2008: Nadia Bahi-Buisson; Eva Guttierrez-Delicado; Christine Soufflet; Marlène Rio; Valérie Cormier Daire; Didier Lacombe; Delphine Héron; Alain Verloes; Sameer M Zuberi; Lydie Burglen; Alexandra Afenjar; Marie-Laure Moutard; P Edery; Antonio Novelli; Laura Bernardini; Olivier Dulac; Rima Nabbout; Perrine Plouin; Agatino Battaglia
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Epilepsia 2008;49(3):509-15.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: Alexandra Afenjar; Marie-Laure Moutard; Diane Doummar; Agnés Guët; Daniel Rabier; Anne-Isabelle Vermersch; Cyril Mignot; Lydie Burglen; Delphine Heron; Elizabeth Thioulouse; Thierry Billette de Villemeur; Dominique Campion; Diana Rodriguez
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Brain & development 2007;29(9):547-52.
2007: Agnés Guët; Marie-Laure Moutard
[New treatments of epilepsy in infancy].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(8):1041-4.
2007: Judith Kröll-Seger; Anna Kaminska; Marie-Laure Moutard; Anne De Saint-Martin; Agnés Guët; Olivier Dulac; Catherine Chiron
Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?
Epilepsia 2007;48(3):612-3.
2006: Nadia Léticée; Marie-Laure Moutard; Grégoire Moutel; Yves Ville
[Changes in prenatal ultrasound practices after the Perruche decision and Law no. 2002-303 dated 4 March 2002].
Presse médicale (Paris, France : 1983) 2006;35(10 Pt 1):1467-74.
2006: Silvia Sacco; Marie-Laure Moutard; Jacqueline Fagard
Agenesis of the corpus callosum and the establishment of handedness.
Developmental psychobiology 2006;48(6):472-81.
2006: Marie-Laure Moutard; Antoinette Gélot; Diana Rodriguez; Agnés Guët; Cyril Mignot; Gérard Ponsot; Thierry Billette de Villemeur
[Fetal neurology: conditions of diagnostic uncertainty].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(6):825-7.
2006: Nadia Léticée; Marie-Laure Moutard; Y Ville
[Changes in the methods of practitioners of fetal medicine after the Perruche judgement and the law passed on the 4th of March 2002].
Journal de gynécologie, obstétrique et biologie de la reproduction 2006;35(3):257-64.
2006: Manir Ali; L J Highet; D Lacombe; C Goizet; M D King; U Tacke; M S van der Knaap; L Lagae; Christopher Rittey; Han G Brunner; Hans van Bokhoven; B Hamel; Y A Oade; A Sanchis; Isabelle Desguerre; D Cau; N Mathieu; Marie-Laure Moutard; Pierre Lebon; D Kumar; Andrew P Jackson; Yanick J Crow
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
Journal of medical genetics 2006;43(5):444-50.
2005: Michèle Brivet; Marie-Laure Moutard; Mokhtar Zater; Lydia Venet; Claude Chenel; Manuele Mine; A Legrand
First characterization of a large deletion of the PDHA 1 gene.
Molecular genetics and metabolism 2005;86(4):456-61.
2005: Isabelle Fauriel; Grégoire Moutel; Nathalie Duchange; Luc Montuclard; Marie-Laure Moutard; Pierre Cochat; Christian Hervé
Decision making concerning life-sustaining treatment in paediatric nephrology: professionals' experiences and values.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(12):2746-50.
2005: Catherine Adamsbaum; Solène Ferey; Marie-Laure Moutard
[Brain MRI: ante and postnatal correlations].
Journal de gynécologie, obstétrique et biologie de la reproduction 2005;34(1 Suppl):S7-13.
2005: Catherine Adamsbaum; Marie-Laure Moutard; Christine André; Valérie Merzoug; Solène Ferey; Marie Pierre Quéré; Fanny Lewin; Catherine Fallet-Bianco
MRI of the fetal posterior fossa.
Pediatric radiology 2005;35(2):124-40.
2004: M Mordefroid; Sophie Grabar; Christine André; Valérie Merzoug; Marie-Laure Moutard; Catherine Adamsbaum
[Partial corpus callosum agenesis].
Journal de radiologie 2004;85(11):1915-26.
2004: Marie-Laure Moutard; Isabelle Fauriel; Grégoire Moutel; Irène François; JOSUE FEINGOLD; Gérard Ponsot; Christian Hervé
[Parent's information and prenatal diagnosis of cerebral malformation with an uncertain prognosis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(5):423-8.
2004: Isabelle Fauriel; Grégoire Moutel; Marie-Laure Moutard; Luc Montuclard; Nathalie Duchange; Ingrid Callies; Irène François; Pierre Cochat; Christian Hervé
Decisions concerning potentially life-sustaining treatments in paediatric nephrology: a multicentre study in French-speaking countries.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004;19(5):1252-7.
2004: Marie-Laure Moutard; Grégoire Moutel; Irène François; Isabelle Fauriel; JOSUE FEINGOLD; Gérard Ponsot; Christian Hervé
Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple's information and consequences on pregnancy.
Annales de génétique 2004;47(1):41-51.
2003: Marie-Laure Moutard; Virginie Kieffer; JOSUE FEINGOLD; François Kieffer; Fanny Lewin; Catherine Adamsbaum; Antoinette Gélot; Jaume Campistol I Plana; Patrick van Bogaert; Monique André; Gérard Ponsot
Agenesis of corpus callosum: prenatal diagnosis and prognosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2003;19(7-8):471-6.
2003: Isabelle Desguerre; F Pinton; Rima Nabbout; Marie-Laure Moutard; S N'guyen; Cécile Marsac; Gérard Ponsot; O Dulac
Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.
Neuropediatrics 2003;34(5):265-9.
2002: Grégoire Moutel; Irène François; Marie-Laure Moutard; Christian Hervé
[The Perruce decree, an opportunity to question the acceptance of a handicap and the relationship between physicians, justice and society].
Presse médicale (Paris, France : 1983) 2002;31(14):632-5.
2002: Catherine Adamsbaum; Valérie Merzoug; Christine André; Catherine Fallet-Bianco; Fanny Lewin; Gabriel Kalifa; Y Rolland; Marie-Laure Moutard
[Prenatal diagnosis of isolated posterior fossa anomalies: attempt at a simplified approach].
Journal de radiologie 2002;83(3):321-8.
2001: P Goasdoué; D Rodriguez; Marie-Laure Moutard; O Robain; G Lalande; Catherine Adamsbaum
Pontoneocerebellar hypoplasia: definition of MR features.
Pediatric radiology 2001;31(9):613-8.
2001: Marie-Laure Moutard; Fanny Lewin; Catherine Adamsbaum; Antoinette Gélot; Diana Rodriguez; Gérard Ponsot
[Role of neuropediatrics in prenatal diagnosis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():442s-444s.
1998: Vincent des Portes; Fiona Francis; Jean-Marc Pinard; Isabelle Desguerre; Marie-Laure Moutard; I Snoeck; Linda C Meiners; F Capron; R Cusmai; S Ricci; Jacques Motte; Bernard Echenne; Gérard Ponsot; O Dulac; Jamel Chelly; Cherif Beldjord
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
Human molecular genetics 1998;7(7):1063-70.
1998: Marie-Laure Moutard; Fanny Lewin; J M Baron; Virginie Kieffer; P Descamps
[Prognosis of isolated agenesis of the corpus callosum].
Neuro-Chirurgie 1998;44(1 Suppl):96-8.
1998: P Descamps; Fanny Lewin; G Body; Marie-Laure Moutard
[Obstetrical management of agenesis of the corpus callosum].
Neuro-Chirurgie 1998;44(1 Suppl):93-5.
1998: Vincent des Portes; Alain Carrié; Pierre Billuart; Virginie Kieffer; Thierry Bienvenu; Marie-Claude Vinet; Cherif Beldjord; A Kahn; Gérard Ponsot; Jamel Chelly; Marie-Laure Moutard
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.
Clinical genetics 1998;53(2):136-41.
1997: Vincent des Portes; Jean-Marc Pinard; D Smadja; Jacques Motte; O Boespflüg-Tanguy; Marie-Laure Moutard; Isabelle Desguerre; Pierre Billuart; A Carrie; Thierry Bienvenu; Marie-Claude Vinet; L Bachner; Cherif Beldjord; O Dulac; Axel Kahn; Gérard Ponsot; Jamel Chelly
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Journal of medical genetics 1997;34(3):177-83.
1997: Françoise Degoul; D François; M Diry; Gérard Ponsot; Isabelle Desguerre; Bénédicte Héron; Cécile Marsac; Marie-Laure Moutard
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
Journal of inherited metabolic disease 1997;20(1):49-53.
1996: Pierre Billuart; Marie-Claude Vinet; Vincent des Portes; Stéphane Llense; L Richard; Marie-Laure Moutard; Dominique Recan; T Brüls; Thierry Bienvenu; Axel Kahn; Cherif Beldjord; Jamel Chelly
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.
Human molecular genetics 1996;5(7):977-9.
1995: J Lemerle; P Daoud; Marie-Laure Moutard; Isabelle Desguerre; D Rodriguez
[Use of intravenous midazolam in status epilepticus in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1995;2(9):848-53.