I. Desguerres: search on Z-Library

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1

Recommandations pour la pratique clinique du dépistage et du diagnostic de l'autisme et des troubles envahissants du développement

A. Baghdadli, S. Beuzon, C. Bursztejn, J. Constant, I. Desguerre, B. Rogé, M. Squillante, J. Voisin, C. Aussilloux

Journal:

Archives de Pédiatrie

Year:

2006

Language:

french

File:

PDF, 157 KB

french, 2006

2

Two new cases of serine deficiency disorders treated with l-serine

Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, Elsa, Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

3

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

M�garban�, A., Desguerres, I., Rizkallah, E., Delague, V., Nabbout, R., Barois, A., Urtizberea, A.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 614 KB

english, 2000

4

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

A. Muchir, J. Medioni, M. Laluc, C. Massart, T. Arimura, A. J. Van Der Kooi, I. Desguerre, M. Mayer, X. Ferrer, S. Briault, M. Hirano, H. J. Worman, A. Mallet, M. Wehnert, K. Schwartz, G. Bonne

Journal:

Year:

2004

Language:

english

File:

PDF, 273 KB

english, 2004

5

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation

F. Degoul, M. Diry, D. Rodriguez, O. Robain, D. François, G. Ponsot, C. Marsac, I. Desguerre

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 629 KB

english, 1995

6

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

F. Degoul, D. François, M. Diry, G. Ponsot, I. Desguerre, B. Héron, C. Marsac, M.L. Moutard

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

File:

PDF, 287 KB

1997

7

A new model of experimental fibrosis in hindlimb skeletal muscle of adult mdx mouse mimicking muscular dystrophy

Isabelle Desguerre, Ludovic Arnold, Alban Vignaud, Sylvain Cuvellier, Houda Yacoub-youssef, Romain K. Gherardi, Jamel Chelly, Fabrice Chretien, RÉmi Mounier, Arnaud Ferry, BÉnÉdicte Chazaud

Journal:

Year:

2012

Language:

english

File:

PDF, 3.30 MB

english, 2012

8

Unusual consequences of status epilepticus in Dravet syndrome

M. Chipaux, N. Villeneuve, P. Sabouraud, I. Desguerre, N. Boddaert, C. Depienne, C. Chiron, O. Dulac, R. Nabbout

Journal:

Year:

2010

Language:

english

File:

PDF, 283 KB

english, 2010

9

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Céci

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 463 KB

english, 2013

10

Les maladies neuromusculaires chez l’enfant : place et définition des soins palliatifs ?

Desguerre, Isabelle, Barnerias, Christine

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Year:

2010

Language:

french

File:

PDF, 161 KB

french, 2010

11

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

Quelin, Chloe, Saillour, Yoann, Poirier, Karine, Roubertie, Agathe, Boddaert, Nathalie, Desguerre, Isabelle, Letourneur, Frank, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 728 KB

english, 2012

12

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bé

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

13

Les neuropathies périphériques révélatrices de maladies métaboliques chez l’enfant

Desguerre, I., Barnerias, C., Valayannopoulos, V.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 199 KB

french, 2007

14

Actualités thérapeutiques dans la myopathie de Duchenne

Desguerre, I., Barnerias, C.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 129 KB

french, 2013

15

The Value of Respiratory Muscle Testing in Children With Neuromuscular Disease

Fauroux, Brigitte, Quijano-Roy, Susana, Desguerre, Isabelle, Khirani, Sonia

Journal:

Year:

2015

Language:

english

File:

PDF, 552 KB

english, 2015

16

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodiev, M. D., Gerber, S., Hubert, L., Delahodde, A., Chretien, D., Gerard, X., Amati-Bonneau, P., Giacomotto, M.-C., Boddaert, N., Kaminska, A., Desguerre, I., Amiel, J., Rio, M., Kaplan, J., Munni

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

17

Rare ACTG1 variants in fetal microlissencephaly

Poirier, Karine, Martinovic, Jelena, Laquerrière, Annie, Cavallin, Mara, Fallet-Bianco, Catherine, Desguerre, Isabelle, Valence, Stephanie, Grande-Goburghun, Jocelyne, Francannet, Christine, Deleuze,

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 399 KB

english, 2015

18

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

Breuillard, Delphine, Leunen, Dorothée, Chemaly, Nicole, Auclair, Laurent, Pinard, Jean Marc, Kaminska, Anna, Desguerre, Isabelle, Ouss, Lisa, Nabbout, Rima

Journal:

Epilepsy & Behavior

Year:

2016

Language:

english

File:

PDF, 420 KB

english, 2016

19

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Grotto, Sarah, Cuisset, Jean-Marie, Marret, Stéphane, Drunat, Séverine, Faure, Patricia, Audebert-Bellanger, Séverine, Desguerre, Isabelle, Flurin, Vincent, Grebille, Anne-Gaëlle, Guerrot, Anne-Marie,

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 80 KB

english, 2016

20

Polio-like phenotype in pediatric acute flaccid paralysis associated with enterovirus infection: The 2016 French experience

Kossorotoff, M., Aubart, M., Schuffenecker, I., Leruez-Ville, M., Moulin, F., Carlier, R., Gitiaux, C., Desguerre, I.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

21

French clinical practice guidelines for Moyamoya angiopathy

Hervé, D., Kossorotoff, M., Bresson, D., Blauwblomme, T., Carneiro, M., Touze, E., Proust, F., Desguerre, I., Alamowitch, S., Bleton, J.-P., Borsali, A., Brissaud, E., Brunelle, F., Calviere, L., Chev

Journal:

Revue Neurologique

Year:

2018

Language:

english

File:

PDF, 488 KB

english, 2018

22

Origine, fondements rationnels et gouvernance de ESPaCe (Enquête Satisfaction Paralysie Cérébrale) : enquête nationale sur les besoins perçus et priorités d’amélioration en rééducation motrice rapportés par les personnes atteintes de paralysie cérébrale et leur famille

Bodoria, M., Bérard, E., Gautheron, V., Guenier, A.-C., Desguerre, I., Toullet, P., Boivin, J., Drewnoswki, G., De La Cruz, J., Brochard, S.

Journal:

Motricité Cérébrale : Réadaptation, Neurologie du Développement

Year:

2018

Language:

french

File:

PDF, 790 KB

french, 2018

23

METABOLIC MYOPATHIES I

Gitiaux, C., Gobin-Limballe, S., Desguerre, I., Barnerias, C., De Lonlay, P., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 66 KB

2018

24

Clinical correlations and longâterm followâup in 100 patients with sarcoglycanopathies

GuimarÃ£esâCosta, Raquel, FernÃ¡ndezâEulate, Gorka, Wahbi, Karim, Leturcq, France, Malfatti, Edoardo, Behin, Anthony, LeonardâLouis, Sarah, Desguerre, Isabelle, Barnerias, Christine, Nougues, Ma

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 4.84 MB

2020

25

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

Runu Dey, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 175 KB

english, 2003

26

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Manuèle Miné, Jian-Min Chen, Michèle Brivet, Isabelle Desguerre, Dominique Marchant, Pascale de Lonlay, Aral Bernard, Claude Férec, Marc Abitbol, Daniel Ricquier, Cécile Marsac

Journal:

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

27

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich, Laurence Colleaux

Journal:

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

28

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meirleir, Vassili Valayannopoulos, Wolfgang Müller-Felber, Ramesh Venkateswaran, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabe

Journal:

Year:

2010

Language:

english

File:

PDF, 291 KB

english, 2010

29

An unexpected EEG course in Dravet syndrome

Rima Nabbout, Isabelle Desguerre, Sandra Sabbagh, Christel Depienne, Perrine Plouin, Olivier Dulac, Catherine Chiron

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

30

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Christine Barnérias MD, , Irina Giurgea, Lucie Hertz-Pannier, Nadia Bahi-Buisson, Nathalie Boddaert, Pierre Rustin PhD, , Agnés Rotig, Isabelle Desguerre, Arnold Munnich, Pascale de Lonlay

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 295 KB

english, 2006

31

Long-term noninvasive mechanical ventilation for children at home: A national survey

B. Fauroux, C. Boffa, I. Desguerre, B. Estournet, H. Trang

Journal:

Pediatric Pulmonology

Year:

2003

Language:

english

File:

PDF, 237 KB

english, 2003

32

Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review

J. Steiner, C. Adamsbaum, I. Desguerres, G. Lalande, R. Raynaud, G. Ponsot, G. Kalifa

Journal:

Pediatric Radiology

Year:

1996

Language:

english

File:

PDF, 561 KB

english, 1996

33

Lesch-Nyhan syndrome in a girl

P. van Bogaert, I. Ceballos, I. Desguerre, L. Telvi, P. Kamoun, G. Ponsot

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 185 KB

english, 1992

34

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Cécile Marsac, Chantal Benelli, Isabelle Desguerre, Monique Diry, Françoise Fouque, L. De Meirleir, Gérard Ponsot, S. Seneca, Florence Poggi, Jean-Marie Saudubray, Marie-Thérèse Zabot, Daniel Fontan,

Journal:

Year:

1997

Language:

english

File:

PDF, 114 KB

english, 1997

35

AFOXG1mutation in a boy with congenital variant of Rett syndrome

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

Journal:

Year:

2011

Language:

english

File:

PDF, 264 KB

english, 2011

36

Peripheral neuropathy and inborn errors of metabolism in adults

F. Sedel, C. Barnerias, O. Dubourg, I. Desguerres, O. Lyon-Caen, Jean-Marie Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 350 KB

english, 2007

37

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre, Anne Philippe, Alexandra Afenjar, Michel Mazzuca, David Cheillan, Arnold Munnich, Yves de Keyzer, Corneli

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 203 KB

english, 2012

38

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?

Isabelle Desguerre, Ixtasu Marti, Vassili Valayannopoulos, Nadia Bahi-Buisson, Olivier Dulac, Perrine Plouin, Pascale DeLonlay, Lucie Hertz-Pannier, Nathalie Boddaert

Journal:

Developmental Medicine & Child Neurology

Year:

2008

Language:

english

File:

PDF, 253 KB

english, 2008

39

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

CHRISTINE BARNERIAS, JEAN-MARIE SAUDUBRAY, GUY TOUATI, PASCALE DE LONLAY, OLIVIER DULAC, GERARD PONSOT, CÉCILE MARSAC, MICHÈLE BRIVET, ISABELLE DESGUERRE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 306 KB

english, 2010

40

A cognitive and affective pattern in posterior fossa strokes in children: a case series

MANOELLE KOSSOROTOFF, CORALIE GONIN-FLAMBOIS, CYRIL GITIAUX, SUSANA QUIJANO, NATHALIE BODDAERT, NADIA BAHI-BUISSON, CHRISTINE BARNERIAS, OLIVIER DULAC, FRANCIS BRUNELLE, ISABELLE DESGUERRE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 332 KB

english, 2010

41

Angiotensin-converting-enzyme inhibitors versus steroids as first-line drug treatment in Duchenne muscular dystrophy

Stéphane Chabrier, Isabelle Desguerre, Mélanie Porte, Claude Payet, François Rivier, for the Neuromuscular Commission of the Société Française de Neurologie Pédiatrique

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

42

Epilepsy in Menkes Disease: Analysis of Clinical Stages

Nadia Bahi-Buisson, Anna Kaminska, Rima Nabbout, Christine Barnerias, Isabelle Desguerre, Pascale De Lonlay, Michele Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

Journal:

Year:

2006

Language:

english

File:

PDF, 543 KB

english, 2006

43

Epileptic phenotypes in children with respiratory chain disorders

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

Journal:

Year:

2010

Language:

english

File:

PDF, 844 KB

english, 2010

44

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study

Rima Nabbout, Cristiana Copioli, Mathilde Chipaux, Nicole Chemaly, Isabelle Desguerre, Olivier Dulac, Catherine Chiron

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

45

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

46

10.1038/ng713

Moghadaszadeh, Behzad, Petit, Nathalie, Jaillard, Céline, Brockington, Martin, Roy, Susana Quijano, Merlini, Luciano, Romero, Norma, Estournet, Brigitte, Desguerre, Isabelle, Chaigne, Denys, Muntoni,

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 492 KB

english, 2001

47

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

Viollet, Louis, Zarhrate, Mohammed, Maystadt, Isabelle, Estournet-Mathiaut, Brigitte, Barois, Annie, Desguerre, Isabelle, Mayer, Michèle, Chabrol, Brigitte, LeHeup, Bruno, Cusin, Veronica

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 202 KB

english, 2004

48

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

Laugel, Vincent, Dalloz, Cecile, Stary, Anne, Cormier-Daire, Valerie, Desguerre, Isabelle, Renouil, Michel, Fourmaintraux, Alain, Velez-Cruz, Renier, Egly, Jean-Marc, Sarasin, Alain

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 253 KB

english, 2008

49

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

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, Agnè

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 905 KB

english, 2008

50

Unusual magnetic resonance imaging features in Menkes disease

Christine Barnerias, Nathalie Boddaert, Guiraud Pascale, Desguerre Isabelle, Lucie Hertz Pannier, Olivier Dulac, Pascale de Lonlay, Nadia Bahi Buisson

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 326 KB

english, 2008

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