B. Échenne: search on Z-Library

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1

Dyslexie dysorthographie : définition, bases neurologiques et physiopathologiques

Journal:

Archives de Pédiatrie

Year:

2002

Language:

french

File:

PDF, 23 KB

french, 2002

2

Actualité de la prise en charge des mouvements anormaux chez l’enfant : la dystonie

Roubertie, A., Echenne, B.

Journal:

Annals of Physical and Rehabilitation Medicine

Year:

2012

Language:

french

File:

PDF, 160 KB

french, 2012

3

Traitement des dystonies de l’enfant

A. Roubertie, E. Roze, N. Bahi-Buisson, C. Payet, B. Echenne, D. Doummar

Journal:

Archives de Pédiatrie

Year:

2010

File:

PDF, 335 KB

2010

4

Dystrophies musculaires congénitales

Rivier, F., Mercier, M., Hugon, G., Mornet, D., Echenne, B.

Journal:

EMC - Neurologie

Year:

2010

Language:

french

File:

PDF, 1.05 MB

french, 2010

5

La maturation des potentiels evoques somesthesiques cerebraux

J. Cadilhac, Y. Zhu, M. Georgesco, B. Echenne, M. Rodiere

Journal:

Revue d'Electroencéphalographie et de Neurophysiologie Clinique

Year:

1985

File:

PDF, 676 KB

1985

6

Salla disease in one non-Finnish patient

B. Echenne, M. Vidal, I. Maire, J. C. Michalski, P. Baldet, J. Astruc

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 823 KB

english, 1986

7

Déficit moteur aigu non traumatique de l’enfant : orientations diagnostiques

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

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 1.48 MB

french, 2010

8

Interet de l'enregistrement polygraphique du sommeil de nuit chez l'enfant suspect de crises epileptiques, lorsque les EEG dë routine et apres privation de sommeil demeurent normaux

M. Billiard, B. Echenne, A. Besset, J. Touchon, M. Baldy-Moulinier, P. Passouant

Journal:

Revue d'Electroencéphalographie et de Neurophysiologie Clinique

Year:

1981

File:

PDF, 607 KB

1981

9

CL027 - Informité motrice cérébrale (IMC) et mutation du gène COL4A1 : diversité clinique dans une famille

A. Roubertie, B. Echenne, P. Labauge, F. Rivier, C. Langlois, K. Vahédi, E. Tournier-Lasserve

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 55 KB

french, 2010

10

036 Neurological features associated with 22q11 interstitial deletion: Phenotypic variability

A. Roubertie, M. Semprino, V. Humber-Claude, F. Rivier, R. Cheminal, G. Lefort, B. Echenne

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

11

Partial acute transverse myelitis is a predictor of multiple sclerosis in children

Meyer, P., Leboucq, N., Molinari, N., Roubertie, A., Carneiro, M., Walther-Louvier, U., Cuntz-Shadfar, D., Leydet, J., Cheminal, R., Cambonie, G., Echenne, B., Rondouin, G., Deiva, K., Mikaeloff, Y.,

Journal:

Multiple Sclerosis Journal

Year:

2014

Language:

english

File:

PDF, 997 KB

english, 2014

12

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

13

Les vitesses de conduction nerveuse motrice dans les formes precoces d'amyotrophie spinale infantile. Problemes diagnostiques

B. Echenne, M. Georgesco, G. Dapres

Journal:

Revue d'Electroencéphalographie et de Neurophysiologie Clinique

Year:

1984

File:

PDF, 323 KB

1984

14

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

15

Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy

François Rivier, Sylvie Tuffery, Abdel Jellil Jellali, Bernard Echenne, Dominique Mornet, Françoise Pons

Journal:

Year:

1998

Language:

english

File:

PDF, 256 KB

english, 1998

16

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

17

Retards importants de l'acquisition du langage parle: Quel devenir scolaire?

B. Echenne, R. Cheminal, D. Deiport, P. Klemm, F. Rivier

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 120 KB

1996

18

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Sylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, Bernard Echenne, Jean Marie Cuisset, François Rivier, Mireille Cossée, Christophe Philippe, Nicole Monnier, Eric Bieth, Dominique Recan, Marie An

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 223 KB

english, 2004

19

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency

Carole Tonetti, Jean-Marie Saudubray, Bernard Echenne, Pierre Landrieu, Stéphane Giraudier, Jacqueline Zittoun

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 232 KB

english, 2003

20

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

21

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

22

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

23

PP11.3 – 2494: Phenotype selection in DCD patients prior to quantitative PET imaging

Farmer, M., Echenne, B.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 113 KB

english, 2015

24

Absence of Dystrophin and Utrophin in a Boy with Severe Muscular Dystrophy

Chevron, Marie-Pierre, Echenne, Bernard, Demaille, Jacques

Journal:

Boston Medical and Surgical Journal

Year:

1994

File:

PDF, 3.95 MB

1994

25

Congenital Muscular Dystrophy and Rigid Spine Syndrome

Echenne, B., Astruc, J., Brunel, D., Pages, M., Baldet, P., Martinazzo, G.

Journal:

Neuropediatrics

Year:

1983

File:

PDF, 556 KB

1983

26

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia andCACNA1Amutation in a family

A. Roubertie, B. Echenne, J. Leydet, S. Soete, B. Krams, F. Rivier, F. Riant, E. Tournier-Lasserve

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

27

Antiglial Cell Autoantibodies and Childhood Epilepsy: A Case Report

Agathe Roubertie, Hassan Boukhaddaoui, Victor Sieso, Anne De Saint-Martin, Arielle Lellouch-Tubiana, Edouard Hirsch, Bernard Echenne, Jean Valmier

Journal:

Year:

2005

Language:

english

File:

PDF, 281 KB

english, 2005

28

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

29

Epileptic EEG abnormalities in developmental dysphasias

Echenne, Bernard, Cheminal, Renée, Rivier, François, Billiard, Michel

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 129 KB

english, 1992

30

Congenital muscular dystrophy and cerebellar atrophy

Echenne, B., Rivier, F., Tardieu, M., Brive, M., Robert, A., Pages, A. M., Pons, F., Mornet, D.

Journal:

Year:

1998

Language:

english

File:

PDF, 557 KB

english, 1998

31

Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity

Anne Ducros, Anne Joutel, Michaëlle Cecillon, Dr. Elisabeth Tournier-Lasserve, Katayoun Vahedi, Marie-Germaine Bousser, Antonio Ferreira, Evelyne Bernard, Albert Verier, Bernard Echenne, Adolfo Lopez

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 494 KB

english, 1997

32

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

33

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

34

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

35

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Daoud, F., Angeard, N., Demerre, B., Martie, I., Benyaou, R., Leturcq, F., Cossee, M., Deburgrave, N., Saillour, Y., Tuffery, S., Urtizberea, A., Toutain, A., Echenne, B., Frischman, M., Mayer, M., De

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

36

Vigabatrin-associated retinal cone system dysfunction

Roubertie, A., Bellet, H., Echenne, B.

Journal:

Year:

1998

Language:

english

File:

PDF, 242 KB

english, 1998

37

Recurrent Episodes of Coma: An Unusual Phenotype of Familial Hemiplegic Migraine with Linkage to Chromosome 1

Echenne, B., Ducros, A., Rivier, F., Joutel, A., Humbertclaude, V., Roubertie, A., Azaïs, M., Bousser, M., Tournier-Lasserve, E.

Journal:

Neuropediatrics

Year:

1999

Language:

english

File:

PDF, 372 KB

english, 1999

38

À propos d'une forme atypique de dystrophinopathie

F. Rivier, F. Pons, A.J. Jetlali, S. Tuffery, A.M. Pagès, B. Echenne

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 142 KB

1996

39

Que faire devant un enfant qui ne parle pas ?

Journal:

Archives de Pédiatrie

Year:

2005

Language:

french

File:

PDF, 78 KB

french, 2005

40

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

41

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

42

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

L Lambert, T Bienvenu, L Allou, M Valduga, B Echenne, B Diebold, C Mignot, D Héron, V Roth, A Saunier, A MoustaÏne, P Jonveaux, C Philippe

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 550 KB

english, 2012

43

Dominantly Inherited Hypoplasia of the Vermis

Rivier, F., Echenne, B.

Journal:

Neuropediatrics

Year:

1992

Language:

english

File:

PDF, 278 KB

english, 1992

44

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

45

Accidents vasculaires cerebraux: Analyse neuropsychologique

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

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 96 KB

1999

46

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

47

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

48

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

49

Cognitive impairment in children with CACNA 1A mutations

Humbertclaude, Veronique, Riant, Florence, Krams, Benjamin, Zimmermann, Valerie, Nagot, Nicolas, Annequin, Daniel, Echenne, Bernard, Tournier‐Lasserve, Elisabeth, Roubertie, Agathe, Bonnemains, Chryst

Journal:

Developmental Medicine & Child Neurology

Year:

2019

Language:

english

File:

PDF, 429 KB

english, 2019

50

Myotonic dystrophy type I in childhood: Long-term evolution in patients surviving the neonatal period

Bernard Echenne, Aline Rideau, Agathe Roubertie, Guillaume Sébire, François Rivier, Bernard Lemieux

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 469 KB

english, 2008

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