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51

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

Cyril Mignot, Isabelle Desguerre, Lydie Burglen, Lucie Hertz-Pannier, Florence Renaldo, Jean-François Gadisseux, Serge Gallet, Danielle Pham-Dinh, Odile Boespflug-Tanguy, Diana Rodriguez

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 200 KB

english, 2009

52

Erratum to “Unusual magnetic resonance imaging features in Menkes disease” [Brain Dev. 30 (2008) 489–492]

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

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

53

Opsoclonus–myoclonus in children associated or not with neuroblastoma

Pauline Krug, Gudrun Schleiermacher, Jean Michon, Dominique Valteau-Couanet, Hervé Brisse, Michel Peuchmaur, Sabine Sarnacki, Hélène Martelli, Isabelle Desguerre, Marc Tardieu

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 503 KB

english, 2010

54

NMO03 Phenotypic heterogeneity of Duchenne muscular dystrophy assessed by long term follow-up and role of the endomysial fibrosis in the muscle

I. Desguerre, C. Christov, M. Mayer, H.M. Becane, R. Zeller, J. Chelly, R. Gherardi

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

55

O6-6 Acute neurovascular events in children with ornithine transcarbamylase (OTC) deficiency: a retrospective review

A. Brassier, N. Boddaert, J.P. Bonnefont, I. Desguerre, M. Kossorotoff, P. De Lonlay

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 111 KB

english, 2009

56

308 Ravine syndrome: A new progressive familial encephalopathy on Reunion island?

D. Rodriguez, D. Graber, I. Desguerre, A. Fourmaintraux, H. Testard, G. Chaurand, C. Cartault, A. Gelot, G. Ponsot, M. Renouil

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 148 KB

english, 1999

57

019 Neurological disease due to mitochondrial dysfunction and in utero exposure to antiretroviral nucleoside analogues

S. Blanche, M. Tardieu, A. Slama, P. Rustin, I. Desguerre, M.J. Mayaux, J.F. Delfraissy

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 143 KB

english, 1999

58

309 Leigh syndrome: Experience of a neuropaediatric service with 25 cases

I. Desguerre, D. Rodriguez, M.L. Moutard, N. Villeneuve, D. Chaigne, C. Benelli, G. Ponsot, C. Marsac

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

59

P21 Douleurs et fatigabilité musculaires a l'effort revelatrices d'anomalie de la dystrophine: A propos de 3 cas

D. Rodriguez, M. Mayer, I. Desguerre, M.C. Routon, F. Leturc, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 116 KB

1995

60

P16 Compression medullaire par un hematome revelant un deficit profond en facteur XI

I. Desguerre, M.L. Moutard, M. Stietjes

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 112 KB

1995

61

Étude génétique d'une forme tardive de syndrome de Leigh associée à un déficit en pyruvate déshydrogénase (PDH)

I. Desguerre, C. Marsac, C. Beneitt, F. Fouque, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 133 KB

1995

62

Le syndrome de Gillespie: association d'une aniridie et d'une atrophie cérébelleuse

J. Bursztyn, I. Desguerre, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 144 KB

1995

63

Hétérotopies laminaires sous-corticales et lissencéphalie: malformations cérébrales à hérédits dominante liée à l'X?

JM Pinard, I Desguerre, J Motte, O Dulac, G Ponsot

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 262 KB

1995

64

Utilisation du midazolam intraveineux dans l'état de mal convulsif de l'enfant

J Lemerle, P Daoud, ML Moutard, I Desguerre, D Rodriguez

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 583 KB

1995

65

Épilepsies néonatales et erreurs innées du métabolisme

N. Bahi-Buisson, K. Mention, P.L. Léger, V. Valayanopoulos, R. Nabbout, A. Kaminska, P. Plouin, O. Dulac, P. de Lonlay, I. Desguerre

Journal:

Archives de Pédiatrie

Year:

2006

Language:

french

File:

PDF, 704 KB

french, 2006

66

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Z. Assouline, M. Jambou, M. Rio, C. Bole-Feysot, P. de Lonlay, C. Barnerias, I. Desguerre, C. Bonnemains, C. Guillermet, J. Steffann, A. Munnich, J.P. Bonnefont, A. Rötig, A.S. Lebre

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2012

Language:

english

File:

PDF, 449 KB

english, 2012

67

G.P.13.03 Can VLA-4 be applied as a biomarker for prognosis and therapeutic target in Duchenne muscular dystrophy?

F. Pinto-Mariz, L.R. Carvalho, W. de Mello, A. Prufer, M.G. Ribeiro, M.C.S. Alves-Cunha, I. Riederer, E. Negroni, T. Voit, I. Desguerre, G. Butler-Browne, W. Savino, S.D. Silva-Barbosa

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

68

P4.36 Upper limb evaluation in non-ambulatory patients with neuromuscular disorders

L. Servais, A. Canal, N. De Coninck, A. Mesdelices, I. Desguerres, S. Quijnao-Roy, S. Mahmoudi, B. Estournet, M. Mayer, C. Themar Noel, T. Voit, J.Y. Hogrel

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

69

P1.47 CD49d is a disease biomarker and a potential therapeutic target in Duchenne muscular dystrophy

F. Pinto Mariz, L. Rodrigues Carvalho, A.P.Q. Araujo, W. de Mello, M.G. Ribeiro, M.C.S. Cunha, I. Riederer, E. Negroni, V. Mouly, T. Voit, I. Desguerre, G. Butler-Browne, W. Savino, S.D. Silva-Barbosa

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

70

Unusual Muscular Injury in an Infant With Severe H1N1 Infection

Romain Guedj, Isabelle Desguerre, Anaïs Brassier, Nathalie Boddaert, Philippe Hubert, Mehdi Oualha

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 312 KB

english, 2012

71

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency

N. Boddaert, S. Romano, B. Funalot, M. Rio, E. Sarzi, A.S. Lebre, N. Bahi-Buisson, V. Valayannopoulos, I. Desguerre, D. Seidenwurm, F. Brunelle, F. Brami-Zylberberg, A. Rötig, A. Munnich, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 188 KB

english, 2008

72

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

J.B. Arnoux, N. Boddaert, V. Valayannopoulos, S. Romano, N. Bahi-Buisson, I. Desguerre, Y. de Keyzer, A. Munnich, F. Brunelle, N. Seta, M.D. Dautzenberg, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

73

Long-term outcome in methylmalonic aciduria: A series of 30 French patients

M.A. Cosson, J.F. Benoist, G. Touati, M. Déchaux, N. Royer, L. Grandin, J.P. Jais, N. Boddaert, V. Barbier, I. Desguerre, P.M. Campeau, D. Rabier, V. Valayannopoulos, P. Niaudet, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

74

Approche antalgique et rééducation fonctionnelle dans les pathologies neuromusculaires

Journal:

Annales de Réadaptation et de Médecine Physique

Year:

2001

Language:

french

File:

PDF, 34 KB

french, 2001

75

Vaccination contre l'hépatite B et manifestations neurologiques chez l'enfant

I. Desguerre, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

2001

File:

PDF, 182 KB

2001

76

SFP-12 – Neurologie – Evolution neurologique des enfants atteints de syndrome opso-myoclonique associé ou non à un neuroblastome

P. Krug, G. Schleiermacher, J. Michon, D. Valteau-Couanet, H. Brisse, M. Peuchmaur, S. Sarnacki, H. Martelli, I. Desguerre, M. Tardieu

Journal:

Archives de Pédiatrie

Year:

2008

Language:

french

File:

PDF, 108 KB

french, 2008

77

Hétérogéneité clinique et critères pronostiques de la myopathie de Duchenne

I. Desguerre, M. Mayer, C. Christov, F. Leturcq, J. Chelly, R.-K. Gherardi

Journal:

Archives de Pédiatrie

Year:

2009

Language:

french

File:

PDF, 214 KB

french, 2009

78

Stratégie diagnostique devant une hyperCKémie chez l’enfant

P. Sabouraud, J.-M. Cuisset, C. Cances, S. Chabrier, J.C. Antoine, C. Richelme, B. Chabrol, I. Desguerre, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2009

Language:

french

File:

PDF, 214 KB

french, 2009

79

Épilepsie et maladies mitochondriales

S. El Sabbagh, A.-S. Lebre, N. Bahi-Buisson, P. Delonlay, C. Soufflet, N. Boddaert, M. Rio, A. Rötig, O. Dulac, A. Munnich, I. Desguerre

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 1.52 MB

french, 2011

80

Intérêt de la spectroscopie par résonance magnétique de protons et de carbone 13 dans les cytopathies mitochondriales à expression neurologique chez l'enfant

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 122 KB

1996

81

Régime cétogène dans les epilepsies rebelles: À propos de 32 patients

N Villeneuve, F Pinton, B Heron, N Bednarek, C Billard, C Chiron, C Cieuta, L Desguerre, A Kaminska, J Motte, JC Netter, G Ponsot, O Dulac

Journal:

Archives de Pédiatrie

Year:

1998

File:

PDF, 276 KB

1998

82

Syndrome de Leigh et leucodystrophie par déficit partiel en succinate déshydrogénase: régression sous riboflavine

J.M. Pinard, C. Marsac, E. Barkaoui, I. Desguerre, M. Birch-Machin, P. Reinert, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 637 KB

1999

83

Neuroborreliose de lyme en pediatrie: A propos de 10 observations

C. Laurent, I. Desguerre, P. Chassany, M. Assous, C. Olivier, G. Ponsot

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 142 KB

1999

84

Étude des potentiels évoqués dans sept cas de maladie de Pélizaeus-Merzbacher avec défaut moléculaire identifié

D Rodriguez, A Lemaitre, I Desguerres, O Boespflug-Tanguy, G Ponsot, M Mayer

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

1997

File:

PDF, 91 KB

1997

85

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloglu, Francesco Muntoni, Sylvana Pavek, Caroline Sewry, Michèle Mayer, Michel Fardeau, Fernando M.S. Tomé, Pascale Guicheney

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 515 KB

english, 1998

86

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 745 KB

english, 2000

87

Familial subcortical laminar heterotopia and lissencephaly: Brain malformations with single X-linked-dominant gene?

J-M. Pinard, I. Desguerre, M-L. Moutard, J. Motte, O. Dulac

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 119 KB

english, 1994

88

D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts

Bertrand, A., Ehret, C., Mamchaoui, K., Ziaei, S., Mayer, M., Desguerre, I., Bonne, G., Coirault, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

89

T.P.53 Effect of perindopril orodispersible on muscular function in early stage of Duchenne Muscular Dystrophy

Duboc, D.D., Desguerre, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

90

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Eric Boitier, Françoise Degoul, Isabelle Desguerre, Christiane Charpentier, Dominique François, Gérard Ponsot, Monique Diry, Pierre Rustin, Cécile Marsac

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

91

Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment

GITIAUX, CYRIL, KOSSOROTOFF, MANOELLE, BERGOUNIOUX, JEAN, ADJADJ, ELIAS, LESAGE, FABRICE, BODDAERT, NATHALIE, HULLY, MARIE, BRUGEL, DOMINIQUE, DESGUERRE, ISABELLE, BADER-MEUNIER, BRIGITTE

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 232 KB

english, 2012

92

Early diffusion-weighted magnetic resonance imaging in children after cardiac arrest may provide valuable prognostic information on clinical outcome

Oualha, Mehdi, Gatterre, Pauline, Boddaert, Nathalie, Dupic, Laurent, Saint Blanquat, Laure, Hubert, Philippe, Lesage, Fabrice, Desguerre, Isabelle

Journal:

Intensive Care Medicine

Year:

2013

Language:

english

File:

PDF, 243 KB

english, 2013

93

PALIPED, équipe ressource en soins palliatifs pédiatriques en Île-de-France

Auvrignon, A., Desguerre, I., Lescoeur, B., Nisenbaum, N., Pellegrino, B.

Journal:

Revue d'Oncologie Hématologie Pédiatrique

Year:

2013

Language:

french

File:

PDF, 726 KB

french, 2013

94

Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients

Servais, L., Deconinck, N., Moraux, A., Benali, M., Canal, A., Van Parys, F., Vereecke, W., Wittevrongel, S., Mayer, M., Desguerre, I., Maincent, K., Themar-Noel, C., Quijano-Roy, S., Serari, N., Voit

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 666 KB

english, 2013

95

Aspect en IRM cérébrale des maladies mitochondriales. Algorithme décisionnel des maladies mitochondriales les plus fréquentes

Devaux-Bricout, M., Grévent, D., Lebre, A.-S., Rio, M., Desguerre, I., De Lonlay, P., Valayannopoulos, V., Brunelle, F., Rötig, A., Munnich, A., Boddaert, N.

Journal:

Revue Neurologique

Year:

2014

File:

PDF, 1.05 MB

2014

96

Medical Societies

Desguerre, Isabelle, Barnerias, Christine

Journal:

Year:

1953

Language:

english

File:

PDF, 570 KB

english, 1953

97

Medical News.

Desguerre, Isabelle, Barnerias, Christine

Journal:

Year:

1889

Language:

english

File:

PDF, 419 KB

english, 1889

98

Posterior fossa imaging in 158 children with ataxia

Boddaert, N., Desguerre, I., Bahi-Buisson, N., Romano, S., Valayannopoulos, V., Saillour, Y., Seidenwurm, D., Grevent, D., Berteloot, L., Lebre, A.-S., Zilbovicius, M., Puget, S., Salomon, R., Attie-B

Journal:

Journal of Neuroradiology

Year:

2010

Language:

english

File:

PDF, 856 KB

english, 2010

99

P17 – 2103 Early epileptic encephalopathies associated with STXBP1 mutations: three new patients with different electroclinical profile evoluting to infantile spasms

Barcia, G, Chemaly, N, Van Bogaert, P, Gobin, S, Barnerias, C, Kaminska, A, Munnich, A, Desguerre, I, Dulac, O, Nabbout, R

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

100

Mitochondrial disorders and epilepsy

Desguerre, I., Hully, M., Rio, M., Nabbout, R.

Journal:

Revue Neurologique

Year:

2014

File:

PDF, 346 KB

2014