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Isabelle Desguerre

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Cyril Gitiaux; Maryse Magen; Susana Quijano-Roy; Jean Bergounioux; Thierry Blanc; Jean Paul Bonnefont; Isabelle Desguerre
Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy.
M Kossorotoff; S Savard; M Uettwiller; F Brunelle; R Calmon; Isabelle Desguerre; C Gitiaux; D Grevent; C Heilbronner; Nathalie Boddaert
Arterial spin labeling (ASL) magnetic resonance imaging in acute confusional migraine of childhood.
Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

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2013: Cyril Gitiaux; Maryse Magen; Susana Quijano-Roy; Jean Bergounioux; Thierry Blanc; Jean Paul Bonnefont; Isabelle Desguerre
Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy.
Journal of child neurology 2013;28(6):784-7.
2013: M Kossorotoff; S Savard; M Uettwiller; F Brunelle; R Calmon; Isabelle Desguerre; C Gitiaux; D Grevent; C Heilbronner; Nathalie Boddaert
Arterial spin labeling (ASL) magnetic resonance imaging in acute confusional migraine of childhood.
Journal of neuroradiology. Journal de neuroradiologie 2013;40(2):142-4.
2013: Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
European journal of human genetics : EJHG 2013;21(4):381-5.
2013: Amanda Walne; Tanya Bhagat; Isabelle Desguerre; Cyril Gitiaux; Michael Kirwan; Norma Leonard; Elena Nogales; Tom Vulliamy; Inderjeet S Dokal
Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Haematologica 2013;98(3):334-8.
2013: Penelope Hogarth; Michael C Kruer; Marvin R Natowicz; Lindsay Reese; Diana Rodriguez; Lynn Sanford; S H Subramony; Huong Tran; Wendy Wagoner; Callum Wilson; Randall L Woltjer; Elizabeth Berry-Kravis; Isabelle Desguerre; Andrea Diedrich; Robert T Egel; Nicola C Foulds; Jennifer G Goldman; Sarah Green; Allison Gregory; Simon R Hammans; Susan J Hayflick
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology 2013;80(3):268-75.
2013: Jamel Chelly; Isabelle Desguerre
Progressive muscular dystrophies.
Handbook of clinical neurology 2013;113():1343-66.
2013: Michel Fardeau; Isabelle Desguerre
Diagnostic workup for neuromuscular diseases.
Handbook of clinical neurology 2013;113():1291-7.
2013: Nathalie Boddaert; Francis Brunelle; Isabelle Desguerre
Clinical and imaging diagnosis for heredodegenerative diseases.
Handbook of clinical neurology 2013;111():63-78.
2012: Cyril Gitiaux; Marie Hully; Manoelle Kossorotoff; Fabrice Lesage; Jean Bergounioux; Nathalie Boddaert; Dominique Brugel; Isabelle Desguerre; Elias Adjadj; Brigitte Bader-Meunier
Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment.
Developmental medicine and child neurology 2012;54(12):1160-3.
2012: Giulia Barcia; Nathalie Boddaert; Maile R Brown; Jean-Laurent Casanova; Haijun Chen; Roberta Cilio; Laurence Colleaux; Aline Deligniere; Isabelle Desguerre; Olivier Dulac; Matthew R Fleming; Valeswara-Rao Gazula; Leonard K Kaczmarek; Anna Kaminska; Jack Kronengold; Maeva Langouet; Arnold Munnich; Avinash Abhyankar; Patrick Nitschke; Rima Nabbout
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Nature genetics 2012;44(11):1255-9.
2012: Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
European journal of medical genetics 2012;55(10):527-30.
2012: Estelle Valerie Tenisch; Mônica Zilbovicius; Francis Brunelle; Pascale de Lonlay; Isabelle Desguerre; Benoît Funalot; David Grévent; Anne-Sophie Lebre; Arnold Munnich; Marlene Rio; Agnès Rötig; Nathalie Boddaert
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
Neurology 2012;79(4):391.
2012: Romain Guedj; Philippe Hubert; Nathalie Boddaert; Anaïs Brassier; Isabelle Desguerre; Mehdi Oualha
Unusual muscular injury in an infant with severe H1N1 infection.
Pediatric neurology 2012;47(1):51-4.
2012: Isabelle Desguerre; Arnaud Ferry; Romain K Gherardi; Rémi Mounier; Alban Vignaud; Houda Yacoub-Youssef; Ludovic Arnold; Jamel Chelly; fabrice Chretien; Sylvain Cuvellier; Bénédicte Chazaud
A new model of experimental fibrosis in hindlimb skeletal muscle of adult mdx mouse mimicking muscular dystrophy.
Muscle & nerve 2012;45(6):803-14.
2012: Z Assouline; Christine Barnerias; Christine Bole-Feysot; J P Bonnefont; C Bonnemains; Pascale de Lonlay; Isabelle Desguerre; C Guillermet; M Jambou; Arnold Munnich; M Rio; A Rötig; Julie Steffann; A S Lebre
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Biochimica et biophysica acta 2012;1822(6):1062-9.
2012: François Cartault; Pascale de Lonlay; Isabelle Desguerre; Michael Fähling; Josué Feingold; Alain Fourmaintraux; Emmanuelle Génin; Muriel Girard; Sylvain Hanein; Jean-Jacques Hoarau; Pascale Krejbich-Trotot; Stanislas Lyonnet; Patrick Munier; Arnold Munnich; Magali Naville; Michel Renouil; Diana Rodriguez; Jeanine Vellayoudom; Eric Westhof; Simonetta Bandiera; Edgar Benko; Marc Bintner; Nathalie Boddaert; Alexandra Henrion-Caude
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(13):4980-5.
2012: Lydie Burglen; Sandra Chantot-Bastaraud; Aurélie Coussement; Vincent des Portes; Isabelle Desguerre; Catherine Garel; Cyril Goizet; Christine Ioos; Sylvie Joriot; Didier Lacombe; Leila Lazaro; Mathieu Milh; Florence Petit; Jean-Pierre Siffroi; Renaud Touraine; Ginevra Zanni; Thierry Billette de Villemeur; Alexandra Afenjar; Sabina Barresi; Enrico Bertini; Diana Rodriguez
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Orphanet journal of rare diseases 2012;7():18.
2012: Vassili Valayannopoulos; Jeanne Amiel; Tania Attié-Bitach; Nadia Bahi-Buisson; Nathalie Boddaert; Francis Brunelle; Lydie Burglen; Jamel Chelly; Jocelyne De Laveaucoupet; Isabelle Desguerre; Ferechté Enza-Razavi; Laurence Hubert; Philippe Labrune; Didier Lacombe; Stanislas LYONNET; Caroline Michot; Diana Rodriguez; Yoann Saillour; Pascale de Lonlay
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Brain : a journal of neurology 2012;135(Pt 1):e199; author reply e200.
2011: Rima Nabbout; Nicole Chemaly; Mathilde Chipaux; Cristiana Copioli; Isabelle Desguerre; Olivier Dulac; Catherine Chiron
Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study.
Epilepsia 2011;52(7):e54-7.
2011: Helton Estrela Ramos; Melina Morandini; Aurore Carré; Elodie Tron; Corinne Floch; Laurent Mandelbrot; Nathalie Neri; Benoit De Sarcus; Albane Simon; Jean Paul Bonnefont; Jeanne Amiel; Isabelle Desguerre; Vassili Valayannopoulos; Mireille Castanet; Michel Polak
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
European journal of endocrinology / European Federation of Endocrine Societies 2011;164(2):309-14.
2011: Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Neurogenetics 2011;12(1):1-8.
2011: A S Lebre; M Rio; L Faivre d'Arcier; D Vernerey; P Landrieu; A Slama; C Jardel; P Laforêt; D Rodriguez; N Dorison; D Galanaud; B Chabrol; V Paquis-Flucklinger; D Grévent; S Edvardson; J Steffann; B Funalot; N Villeneuve; Vassili Valayannopoulos; P de Lonlay; Isabelle Desguerre; F Brunelle; J P Bonnefont; A Rötig; A Munnich; N Boddaert
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Journal of medical genetics 2011;48(1):16-23.
2010: Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Human molecular genetics 2010;19(22):4462-73.
2010: Stéphane Chabrier; Isabelle Desguerre; Mélanie Porte; Claude Payet; François Rivier
Angiotensin-converting-enzyme inhibitors versus steroids as first-line drug treatment in Duchenne muscular dystrophy.
Developmental medicine and child neurology 2010;52(11):1067-8.
2010: Nathalie Boddaert; Isabelle Desguerre; Nadia Bahi-Buisson; S Romano; Vassili Valayannopoulos; Yoann Saillour; David J Seidenwurm; D Grevent; L Berteloot; A-S Lebre; M Zilbovicius; S Puget; Rémi Salomon; T Attie-Bitach; Arnold Munnich; F Brunelle; Pascale de Lonlay
Posterior fossa imaging in 158 children with ataxia.
Journal of neuroradiology. Journal de neuroradiologie 2010;37(4):220-30.
2010: Pauline Krug; Gudrun Schleiermacher; Jean Michon; Dominique Valteau-Couanet; Hervé Brisse; Michel Peuchmaur; Sabine Sarnacki; Hélène Martelli; Isabelle Desguerre; Marc Tardieu
Opsoclonus-myoclonus in children associated or not with neuroblastoma.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(5):400-9.
2010: M Rio; A S Lebre; Pascale de Lonlay; Vassili Valayannopoulos; Isabelle Desguerre; J-L Dufier; D Grévent; Mônica Zilbovicius; C Tréguier; F Brunelle; C de Baracé; J Kaplan; M A Espinase-Berrod; Christian Sainte-Rose; Stephanie PUGET; A Rotig; Arnold Munnich; Nathalie Boddaert
Mitochondrial ND5 mutations mimicking brainstem tectal glioma.
Neurology 2010;75(1):93.
2010: Caroline Michot; Laurence Hubert; Michèle Brivet; Linda De Meirleir; Vassili Valayannopoulos; Wolfgang Müller-Felber; Ramesh Venkateswaran; Hélène Ogier; Isabelle Desguerre; Cécilia Altuzarra; Elizabeth Thompson; Martin Smitka; Angela Huebner; Marie Husson; Rita Horvath; Patrick Chinnery; Frederic M Vaz; Arnold Munnich; Orly Elpeleg; Agnès Delahodde; Yves de Keyzer; Pascale de Lonlay
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Human mutation 2010;31(7):E1564-73.
2010: Manoelle Kossorotoff; Coralie Gonin-Flambois; Cyril Gitiaux; Susana Quijano; Nathalie Boddaert; Nadia Bahi-Buisson; Christine Barnerias; Olivier Dulac; Francis Brunelle; Isabelle Desguerre
A cognitive and affective pattern in posterior fossa strokes in children: a case series.
Developmental medicine and child neurology 2010;52(7):626-31.
2010: Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale DeLonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia 2010;51(7):1225-35.
2010: Philippe Campeau; Vassili Valayannopoulos; Guy Touati; Nadia Bahi-Buisson; Nathalie Boddaert; Perrine Plouin; Daniel Rabier; Jean-François Benoist; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
Management of West syndrome in a patient with methylmalonic aciduria.
Journal of child neurology 2010;25(1):94-7.
2009: Fatma Daoud; Nathalie Angeard; Bénédicte Demerre; Itxaso Martie; Rabah Benyaou; France Leturcq; Mireille Cossée; Nathalie Deburgrave; Yoann Saillour; Sylvie Tuffery; Andoni Urtizberea; Annick Toutain; Bernard Echenne; Martine Frischman; Michèle Mayer; Isabelle Desguerre; Brigitte Estournet; Christian Réveillère; Jean Marie Cuisset; Jean-Claude Kaplan; Delphine Héron; François Rivier; Jamel Chelly
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009;18(20):3779-94.
2009: Isabelle Desguerre; Michelle Mayer; France Leturcq; Jacques Patrick Barbet; Romain K Gherardi; Christo Christov
Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation.
Journal of neuropathology and experimental neurology 2009;68(7):762-73.
2009: Cyril Mignot; Isabelle Desguerre; Lydie Burglen; Lucie Hertz-Pannier; Florence Renaldo; Jean-François Gadisseux; Serge Gallet; Danielle Pham-Dinh; Odile Boespflug-Tanguy; Diana Rodriguez
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.
Brain & development 2009;31(3):244-7.
2009: Nathalie Boddaert; Mônica Zilbovicius; Anne Philipe; Laurence Robel; Marie Bourgeois; Catherine Barthélemy; David Seidenwurm; Isabelle Meresse; Laurence Laurier; Isabelle Desguerre; Nadia Bahi-Buisson; Francis Brunelle; Arnold Munnich; Yves Samson; Marie-Christine Mouren; Nadia Chabane
MRI findings in 77 children with non-syndromic autistic disorder.
PloS one 2009;4(2):e4415.
2009: Isabelle Desguerre; Christo Christov; Michele Mayer; Reinhard Zeller; Henri-Marc Becane; Sylvie Bastuji-Garin; France Leturcq; Catherine Chiron; Jamel Chelly; Romain K Gherardi
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.
PloS one 2009;4(2):e4347.
2008: Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatric research 2008;64(6):689-94.
2008: Rima Nabbout; Isabelle Desguerre; Sandra Sabbagh; Christel Depienne; Perrine Plouin; Olivier Dulac; Catherine Chiron
An unexpected EEG course in Dravet syndrome.
Epilepsy research 2008;81(1):90-5.
2008: Guntram Borck; Anahi Mollà-Herman; Nathalie Boddaert; Férechté Encha-Razavi; Anne Philippe; Laurence Robel; Isabelle Desguerre; Francis Brunelle; Alexandre Benmerah; Arnold Munnich; Laurence Colleaux
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Human mutation 2008;29(7):966-74.
2008: Isabelle Desguerre; Rima Nabbout; Olivier Dulac
The management of infantile spasms.
Archives of disease in childhood 2008;93(6):462-3.
2008: Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2008: Vincent Laugel; Cecile Dalloz; Anne Stary; Valerie Cormier-Daire; Isabelle Desguerre; Michel Renouil; Alain Fourmaintraux; Renier Velez-Cruz; Jean-Marc Egly; Alain Sarasin; Hélène Dollfus
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
European journal of human genetics : EJHG 2008;16(3):320-7.
2008: Isabelle Desguerre; Ixtasu Marti; Vassili Valayannopoulos; Nadia Bahi-Buisson; Olivier Dulac; Perrine Plouin; Pascale DeLonlay; Lucie Hertz-Pannier; Nathalie Boddaert
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?
Developmental medicine and child neurology 2008;50(2):112-6.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
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: Pierre Frange; Jean Michon; Isabelle Fromantin; Nathalie Franck; Eva Safar; Marie-Christine Escande; Isabelle Desguerre; Daniel Orbach
Enterovirus 71 meningoencephalitis during chemotherapy in a child with metastatic osteosarcoma.
Journal of pediatric hematology/oncology 2007;29(8):566-8.
2007: Rima Nabbout; Stéphanie Baulac; Isabelle Desguerre; Nadia Bahi-Buisson; Catherine Chiron; Merle Ruberg; Olivier Dulac; Eric LeGuern
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.
Neurology 2007;68(17):1374-81.
2007: Manuèle Miné; Jian-Min Chen; Michèle Brivet; Isabelle Desguerre; Dominique Marchant; Pascale de Lonlay; Aral Bernard; Claude Férec; marc Mordekhaï ABITBOL; Daniel Ricquier; Cécile Marsac
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
Human mutation 2007;28(2):137-42.
2006: Neil V Morgan; Shawn K Westaway; Jenny E V Morton; Allison Gregory; Paul Gissen; Scott Sonek; Hakan Cangul; Jason Coryell; Natalie Canham; Nardo Nardocci; Giovanna Zorzi; Shanaz Pasha; Diana Rodriguez; Isabelle Desguerre; Ammar F Mubaidin; Enrico Bertini; Richard C Trembath; Alessandro Simonati; Carolyn Schanen; Colin A Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia L Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nature genetics 2006;38(7):752-4.
2006: Hyder A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Elena Laróvere; Irène Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Kostadinov Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth Robey; Gabor Barabas; Bastiaan R Bloem; William L Nyhan; Raquel Dodelson de Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Delineation of the motor disorder of Lesch-Nyhan disease.
Brain : a journal of neurology 2006;129(Pt 5):1201-17.
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.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Nadia Bahi-Buisson; Karine Mention; P L Léger; V Valayanopoulos; Rima Nabbout; Anna Kaminska; Perrine Plouin; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
[Neonatal epilepsy and inborn errors of metabolism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(3):284-92.
2006: S Romano; Nathalie Boddaert; Isabelle Desguerre; Laurence Hubert; R Salomon; David J Seidenwurm; Nadia Bahi-Buisson; Rima Nabbout; Pascale Sonigo; Stanislas LYONNET; Francis Brunelle; Arnold Munnich; Pascale de Lonlay
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.
2006: Nadia Bahi-Buisson; Anna Kaminska; Rima Nabbout; Christine Barnerias; Isabelle Desguerre; Pascale de Lonlay; Michele Mayer; Perrine Plouin; Olivier Dulac; Catherine Chiron
Epilepsy in Menkes disease: analysis of clinical stages.
Epilepsia 2006;47(2):380-6.
2005: Annie Barois; Michèle Mayer; Isabelle Desguerre; Brigitte Chabrol; Carole Berard; Jean-Marie Cuisset; Danièle Leclair-Richard; Jacqueline Visconti-Lougovoy; Françoise Hatton; Brigitte Estournet-Mathiaud
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].
Bulletin de l'Académie nationale de médecine 2005;189(6):1181-98; discussion 1198-9.
2005: Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michèle Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Respiratory chain defects may present only with hypoglycemia.
The Journal of clinical endocrinology and metabolism 2005;90(6):3780-5.
2004: guillaume bassez; Arnaud Lazarus; Isabelle Desguerre; Jean Varin; Pascal Laforêt; Henri-Marc Bécane; Christophe Meune; M C Arne-Bes; Z Ounnoughene; Hélène Radvanyi; Bruno Eymard; Denis Duboc
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1.
Neurology 2004;63(10):1939-41.
2004: Antoine Muchir; Jacques Medioni; M Laluc; Catherine Massart; Takuro Arimura; Anneke J van der Kooi; Isabelle Desguerre; M Mayer; Xavier Ferrer; Sylvain Briault; M Hirano; Howard J Worman; Alain Mallet; Manfred Wehnert; Ketty Schwartz; Gisèle Bonne
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle & nerve 2004;30(4):444-50.
2004: Louis Viollet; Mohamed Zarhrate; Isabelle Maystadt; Brigitte Estournet-Mathiaut; Annie Barois; Isabelle Desguerre; Michèle Mayer; Brigitte Chabrol; Bruno Leheup; Veronica Cusin; Thierry Billette de Villemeur; Dominique Bonneau; Pascale Saugier-Veber; Anne Touzery-De Villepin; Anne Delaubier; Jocelyne Kaplan; Marc Jeanpierre; JOSUE FEINGOLD; Arnold Munnich
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
European journal of human genetics : EJHG 2004;12(6):483-8.
2003: Béatrice Barret; Marc Tardieu; Pierre Rustin; Catherine Lacroix; Brigitte Chabrol; Isabelle Desguerre; Catherine Dollfus; Marie-Jeanne Mayaux; Stéphane Blanche
Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort.
AIDS (London, England) 2003;17(12):1769-85.
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.
2003: Runu Dey; Manuele Mine; Isabelle Desguerre; Abdelhamid Slama; Loïc Van Den Berghe; Michèle Brivet; Bernard Aral; Cécile Marsac
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Annals of neurology 2003;53(2):273-7.
2003: B Fauroux; C Boffa; Isabelle Desguerre; Brigitte Estournet; Ha Trang
Long-term noninvasive mechanical ventilation for children at home: a national survey.
Pediatric pulmonology 2003;35(2):119-25.
2001: Behzad Moghadaszadeh; Nathalie Petit; C Jaillard; Martin Brockington; S Quijano Roy; Luciano Merlini; Norma B Romero; Brigitte Estournet; Isabelle Desguerre; D Chaigne; Francesco Muntoni; Haluk Topaloglu; Pascale Guicheney
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: M O Pequignot; Isabelle Desguerre; Runu Dey; M Tartari; M Zeviani; A Agostino; Chantal Benelli; Françoise Fouque; C Prip-Buus; Dominique Marchant; marc Mordekhaï ABITBOL; Cécile Marsac
New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
The Journal of biological chemistry 2001;276(18):15326-9.
2001: Isabelle Desguerre; Gérard Ponsot
[Hepatitis B vaccination and neurologic manifestations in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():325s-326s.
2000: Valérie Cormier-Daire; Nathalie Dagoneau; Rima Nabbout; L Burglen; C Penet; Christine Soufflet; Isabelle Desguerre; Arnold Munnich; Olivier Dulac
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
American journal of human genetics 2000;67(4):991-3.
2000: Gisèle Bonne; Eugenio Mercuri; Antoine Muchir; Andoni Urtizberea; Henri-Marc Bécane; Dominique Recan; Luciano Merlini; Manfred Wehnert; R Boor; U Reuner; Matthias Vorgerd; E M Wicklein; Bruno Eymard; Denis Duboc; I Penisson-Besnier; Jean-Marie Cuisset; Xavier Ferrer; Isabelle Desguerre; D Lacombe; Kate Bushby; C Pollitt; Daniela Toniolo; Michel Fardeau; Ketty Schwartz; Francesco Muntoni
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Annals of neurology 2000;48(2):170-80.
1999: Stéphane Blanche; Marc Tardieu; Pierre Rustin; Abdelhamid Slama; Béatrice Barret; Ghislaine Firtion; Nicole Ciraru-Vigneron; Catherine Lacroix; Christine Rouzioux; Laurent Mandelbrot; Isabelle Desguerre; Agnès Rötig; Marie-Jeanne Mayaux; Jean-François Delfraissy
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues.
Lancet 1999;354(9184):1084-9.
1999: Jean-Marc Pinard; Cécile Marsac; EMNA BARKAOUI; Isabelle Desguerre; M Birch-Machin; P Reinert; Gérard Ponsot
[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6(4):421-6.
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: Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; S Pavek; Caroline Sewry; M Mayer; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
American journal of human genetics 1998;62(6):1439-45.
1998: E Boitier; Françoise Degoul; Isabelle Desguerre; C Charpentier; D François; Gérard Ponsot; M Diry; P Rustin; Cécile Marsac
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.
Journal of the neurological sciences 1998;156(1):41-6.
1997: Cécile Marsac; Chantal Benelli; Isabelle Desguerre; M Diry; Françoise Fouque; Linda De Meirleir; Gérard Ponsot; Sara Seneca; F Poggi; Jean-Marie Saudubray; Marie-Thérèse Zabot; D Fontan; Willy Lissens
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
Human genetics 1997;99(6):785-92.
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.
1997: Isabelle Desguerre; Andoni Urtizberea
Clinical aspects of neuromuscular diseases.
Pediatric pulmonology. Supplement 1997;16():132-3.
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.
1995: J M Pinard; Isabelle Desguerre; J Motte; Olivier Dulac; Gérard Ponsot
[Subcortical laminar heterotopia and lissencephaly: brain malformations with X-linked dominant heredity?].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1995;2(5):493-4.
1995: J M Pinard; Isabelle Desguerre; Jacques Motte; Olivier Dulac; Gérard Ponsot
[Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance].
Revue neurologique 1995;151(3):171-6.
1995: Willy Lissens; Isabelle Desguerre; Chantal Benelli; Cécile Marsac; Françoise Fouque; C Haenggeli; Gérard Ponsot; Sara Seneca; Inge Liebaers; Linda De Meirleir
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
Human molecular genetics 1995;4(2):307-8.
1995: Françoise Degoul; M Diry; D Rodriguez; O Robain; D Francois; Gérard Ponsot; Cécile Marsac; Isabelle Desguerre
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.
Journal of inherited metabolic disease 1995;18(6):682-8.
1994: Linda De Meirleir; Willy Lissens; Chantal Benelli; Gérard Ponsot; Isabelle Desguerre; Cécile Marsac; D Rodriguez; Jean-Marie Saudubray; F Poggi; Inge Liebaers
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
Pediatric research 1994;36(6):707-12.
1994: J Languepin; P Daoud; Isabelle Desguerre
[Cervical intraspinal enterogenous cyst: a rare cause of neonatal syncope].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(1):54-6.