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51

Apport de la génétique à la compréhension de l'autisme

N. Demonceau, A. Roubertie, R. Cheminal, J. Leydet, F. Rivier, B. Echenne

Journal:

Archives de Pédiatrie

Year:

2005

Language:

french

File:

PDF, 95 KB

french, 2005

52

Mouvements anormaux paroxystiques non épileptiques de l'enfant

A. Roubertie, J. Leydet, S. Soete, F. Rivier, R. Cheminal, B. Echenne

Journal:

Archives de Pédiatrie

Year:

2007

Language:

french

File:

PDF, 164 KB

french, 2007

53

Syndromes génétiques mimant les infections congénitales : à propos de 2 cas

M. Thibault, J. Leydet, E. Tournier-Lasserve, Y.-J. Crow, F. Rivier, B. Echenne, C. Langlois, H. Daudet, P. Sarda, A. Roubertie

Journal:

Archives de Pédiatrie

Year:

2011

File:

PDF, 424 KB

2011

54

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

Pascale Richard, Karen Gaudon, Emmanuel Fournier, Christopher Jackson, Stéphanie Bauché, Hafedh Haddad, Jeanine Koenig, Bernard Echenne, Daniel Hantaï, Bruno Eymard

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.48 MB

english, 2007

55

Partial Epilepsy and 47,XXX Karyotype: Report of Four Cases

Agathe Roubertie, Véronique Humbertclaude, Julie Leydet, Geneviève Lefort, Bernard Echenne

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 530 KB

english, 2006

56

Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

Bernard Echenne, Agathe Roubertie, Birgit Assmann, Thomas Lutz, Johann M. Penzien, Beat Thöny, Nenad Blau, Georg F. Hoffmann

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

57

Cerebrospinal Fluid Analysis in the Diagnosis and Treatment of Arterial Ischemic Stroke

Emilie M. Riou, Catherine Amlie-Lefond, Bernard Echenne, Marie Farmer, Guillaume Sébire

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 145 KB

english, 2008

58

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Bernard Echenne, Agathe Roubertie, Dorien Lugtenberg, Titske Kleefstra, Ben C.J. Hamel, Hans Van Bokhoven, Didier Lacombe, Christophe Philippe, Philippe Jonveaux, Arjan P.M. de Brouwer

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

59

Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus

Philippe Coubes, Agathe Roubertie, Nathalie Vayssiere, Simone Hemm, Bernard Echenne

Journal:

Year:

2000

Language:

english

File:

PDF, 56 KB

english, 2000

60

Analyse de la marche au cours de la dystrophie musculaire de Duchenne

K. Patte, J. Pélissier, C. Bénaim, E.M. Laassel, C. Guibal, B. Echenne

Journal:

Annales de Réadaptation et de Médecine Physique

Year:

2000

File:

PDF, 1.07 MB

2000

61

Infantile bilateral striatal necrosis following measles

Gilles Cambonie, Laure Houdon, Francois Rivier, Anne-France Bongrand, Bernard Echenne

Journal:

Brain and Development

Year:

2000

Language:

english

File:

PDF, 304 KB

english, 2000

62

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

Agathe Roubertie, Marcos Semprino, Anne Marie Chaze, François Rivier, Véronique Humbertclaude, Renée Cheminal, Geneviève Lefort, Bernard Echenne

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 261 KB

english, 2001

63

Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy

François Rivier, Bernard Echenne, Yves Chaix, Agnès Robert, Marie B Delisle, Patrick Calvas, Dominique Mornet

Journal:

Brain and Development

Year:

2000

Language:

english

File:

PDF, 270 KB

english, 2000

64

Familial Dandy-Walker malformation and leukodystrophy

Véronique T. Humbertclaude, Philippe A. Coubes, Nicolas Leboucq, Bernard B. Echenne

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 1.17 MB

english, 1997

65

Les myélites aiguës de l’enfant, à propos d’une cause rare : le virus de la chorioméningite lymphocytaire

V Humbertclaude, S Tourtet, M Semprino, A Roubertie, F Rivier, N Leboucq, J Astruc, B Echenne

Journal:

Archives de Pédiatrie

Year:

2001

Language:

french

File:

PDF, 74 KB

french, 2001

66

Les myopathies mitochondriales :leurs aspects cliniques, biologiques, morphologiques et moléculaires

B Echenne, F Rivier, H Bellet, V Humbertclaude, A Roubertie

Journal:

Archives de Pédiatrie

Year:

2002

Language:

french

File:

PDF, 32 KB

french, 2002

67

Traitement des syndromes dystoniques par stimulation électrique chronique du globus pallidus interne

P Coubes, L Cif, M Azais, A Roubertie, S Hemm, N Diakonova, N Vayssiere, C Monnier, E Hardouin, A Ganau, S Tuffery, M Claustre, B Echenne

Journal:

Archives de Pédiatrie

Year:

2002

Language:

french

File:

PDF, 25 KB

french, 2002

68

P300 - Séquelles neurologiques inattendues après anesthésie par le propofol chez le nourrisson : à propos de 3 cas

P. Meyer, C. Langlois, S. Soëte, J. Leydet, B. Echenne, F. Rivier, A. Bonafé, A. Roubertie

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 57 KB

french, 2010

69

P272 - Forme trompeuse de la maladie de Pompe : étude d’une fratrie

U. Walther-Louvier, H. Schlegel, M. Mercier, M. Carneiro, B. Echenne, H. Bataille, M. Piraud, M. Rolland, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 56 KB

french, 2010

70

P309 - Le syndrome de Barth : à propos d’un cas

U. Walther-Louvier, H. Schlegel, M. Mercier, M. Carneiro, B. Echenne, M. Voisin, S. Chabrier, S. Boyer, R. Touraine, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 56 KB

french, 2010

71

P301 - Syndromes génétiques mimant les infections congénitales : une nouvelle forme ?

M. Thibault, F. Rivier, B. Echenne, H. Daude, P. Sarda, A. Roubertie

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 57 KB

french, 2010

72

Mouvements anormaux paroxystiques dans les carences énergétiques (PDH, GLUT1)

A. Roubertie, M. Carneiro, B. Echenne

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 1.52 MB

french, 2011

73

Myopathies constitutionnelles : place des examens complémentaires

F. Rivier, Ul. Walther-Louvier, S. Chabrier, C. Cances, C. Espil, M. Carneiro, B. Echenne, P. Meyer

Journal:

Archives de Pédiatrie

Year:

2012

Language:

french

File:

PDF, 94 KB

french, 2012

74

Les vomissements cycliques de l’enfant: le point de vue du neuropédiatre

A. Roubertie, D. Doummar, B. Echenne

Journal:

Archives de Pédiatrie

Year:

2012

Language:

french

File:

PDF, 106 KB

french, 2012

75

A propos d'une observation de meningo-encephalo-myelite tuberculeuse

N. Sarran, G. Cambonie, M Rodiere, J. Perez, B Echenne, D Riev, J. Astruc

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 134 KB

1997

76

Épendymome anaplasique ectopique intrarachidien extradural chez un nourrisson

A Roubertie, P Coubes, V Humbertclaude, R Chemical, G Margueritte, C Marty Double, P Frerebeau, B Echenne

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 607 KB

1997

77

Stimulation électrique chronique bilatérale du globus pallidus interne dans un cas de dystonie musculaire déformante

V Humbertclaude, P Coubes, B Echenne, P Frerebeau

Journal:

Archives de Pédiatrie

Year:

1998

File:

PDF, 154 KB

1998

78

Les convulsions familiales bénignes du nourrisson

B. Échenne, F. Rivier, V. Humbertclaude, A. Roubertie, R. Cheminal, A. Malafosse

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 561 KB

1999

79

Convulsions bénignes du nourrisson. Étude collaboratrice française

A. Gautier, F. Pouplard, N. Bednarek, J. Motte, P. Berquin, C. Billard, F. Boidein, J. Boulloche, O. Dulac, B. Échenne, V. Humbertclaude

Journal:

Archives de Pédiatrie

Year:

1999

Language:

french

File:

PDF, 723 KB

french, 1999

80

Convulsions infantiles familiales benignes (CIFB): Un diagnostic d'elimination

F. Rivier, M. Semprino, V. Humbertclaude, A. Touzery de Villepin, R. Cheminal, A. Roubertie, A. Malafosse, B. Echenne

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 136 KB

1999

81

Accidents vasculaires cerebraux: Analyse neuropsychologique

R. Cheminal, F. Rivier, A. Roubertie, B. Echénne

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 96 KB

1999

82

A standardized method for the evaluation of respiratory muscle endurance in patients with Duchenne muscular dystrophy

Stefan Matecki, Nathalie Topin, Maurice Hayot, François Rivier, Bernard Echenne, Christian Prefaut, Michele Ramonatxo

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

83

Dose-dependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophy

Nathalie Topin, Stefan Matecki, Stephanie Le Bris, François Rivier, Bernard Echenne, Christian Prefaut, Michele Ramonatxo

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

84

Congenital muscular dystrophy and cerebellar hypoplasia. An original cerebro-muscular syndrome

B. Echenne, F. Rivier, M. Tardieu, M. Brive, D. Mornet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

85

Dystrophin associated glycoprotein complex in a particular case of Becker muscular dystrophy

F. Rivier, A. Robert, Y. Chaix, M.B. Delisle, A. Bonet-Kerrache, B. Echenne, D. Mornet

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

86

Standardized evaluation of respiratory muscle endurance in children with progressive muscular dystrophy

S. Matecki, M. Hayot, F. Rivier, M. Ramonatxo, B. Echenne, C. Prefaut

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

87

Malignant hyperthermia in a patient with King Denborough syndrome lack of correlation with the RYR gene mutation

B. Echenne, F. Rivier, A. Roubertie, J. Lunardi, E.M. Chambaz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

88

Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter

B. Echenne, F. Rivier, A.J. Jellali, M. Azais, D. Mornet, F. Pons

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 317 KB

english, 1997

89

Congenital club foot with survival motor neuron gene deletion

B. Echenne, F. Rivier, A. Roubertie, V. Humbertclaude

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

90

Association de parasomnies et d'une épilepsiechez une enfant : phénomène unique ou association fortuite?

A. Crespel, M. Baldy-Moulinier, B. Echenne, P. Coubes

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

1998

Language:

french

File:

PDF, 98 KB

french, 1998

91

Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque, Marguerite Gastaldi, Bernard Echenne, Jacques Motte, Pierre Genton, Ricardo Cersósimo, Véronique Humbertclaude, Natalio Fejerman, Anthony P. Monaco,

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 406 KB

english, 2001

92

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloglu, Bernard Echenne, Luciano Merlini, Pascale Guicheney

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.21 MB

english, 2002

93

Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

Sarah A. Shoichet, Kirsten Hoffmann, Corinna Menzel, Udo Trautmann, Bettina Moser, Maria Hoeltzenbein, Bernard Echenne, Michael Partington, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 5.57 MB

english, 2003

94

Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations

F. Bergametti, C. Denier, P. Labauge, M. Arnoult, S. Boetto, M. Clanet, P. Coubes, B. Echenne, R. Ibrahim, B. Irthum, G. Jacquet, M. Lonjon, J.J. Moreau, J.P. Neau, F. Parker, M. Tremoulet, E. Tournie

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.40 MB

english, 2005

95

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke

Darteyre, S., Chabrier, S., Presles, E., Bonafe, A., Roubertie, A., Echenne, B., Leboucq, N., Rivier, F.

Journal:

Year:

2012

Language:

english

File:

PDF, 356 KB

english, 2012

96

Particularités pédiatriques des mouvements anormaux

Roubertie, A., Carneiro, M., Echenne, B.

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

2012

File:

PDF, 50 KB

2012

97

Missense mutations inSURF1associated with deficient cytochrome

A. Poyau,K. Buchet,M. Fouad Bouzidi,M.-T. Zabot,B. Echenne,J. Yao…

Journal:

Year:

2000

Language:

english

File:

PDF, 639 KB

english, 2000

98

Congenital muscular dystrophy and cerebral CT scan anomalies: Results of a collaborative study of the Société de Neurologie Infantile

B. Echenne, M. Arthuis, C. Billard, J. Campos-Castello, Y. Castel, O. Dulac, D. Fontan, A. Gauthier, S. Kulakowski, G. De Meuron, J.R. Moore, M. Nieto-Barrera, M. Pages, D. Parain, L. Pavone, G. Ponso

Journal:

Journal of the Neurological Sciences

Year:

1986

Language:

english

File:

PDF, 1.44 MB

english, 1986

99

Congenital nonprogressive encephalopathy and deafness with intermittent episodes of coma and hyperkinureninuria: New disease?

R. Cheminal, B. Echenne, H. Bellet

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 123 KB

english, 1994

100

Language evolution under vigabatrin in children with severe language dysfunction

B. Echenne, R. Cheminal

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 117 KB

english, 1994