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1

EMG and nerve conduction studies in children with congenital muscular dystrophy

Susana Quijano-Roy, Francis Renault, Norma Romero, Pascale Guicheney, Michel Fardeau, Brigitte Estournet

Journal:

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

2

M.P.5.05 Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

S. Quijano-Roy, D. Avila-Smirnow, M. Zayani, S. Chaabane, M. Hamida, B. Estournet, L. Viollet, D. Fischer, P. Cuvelier, A. Ferreiro, N. Dehlinger, N.B. Romero, L. Briñas, C. Gartioux, P. Guicheney, P.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

3

Gangliosidose à GM1 révélée par un syndrome de Silverman

C Ioos, S Lamer, A Picard, B Estournet-Mathiaut, J.M Pinard

Journal:

Archives de Pédiatrie

Year:

2000

Language:

french

File:

PDF, 855 KB

french, 2000

4

Troubles de l'organisation du sommeil chez l'enfant épileptique

S. Veyrières, M. Farmer, C. Ioos, J.M. Delage, A. Picard, B. Estournet Mathiaud, J.M. Pinard, F. Chéliout Héraut

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

2002

Language:

french

File:

PDF, 22 KB

french, 2002

5

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Baujat, G., Huber, C., El Hokayem, J., Caumes, R., Do Ngoc Thanh, C., David, A., Delezoide, A.-L., Dieux-Coeslier, A., Estournet, B., Francannet, C., Kayirangwa, H., Lacaille, F., Le Bourgeois, M., Ma

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

6

Pourquoi une Association Générale des Administrateurs Civils ?

Rémy ESTOURNET

Journal:

La Revue administrative

Year:

1950

Language:

french

File:

PDF, 273 KB

french, 1950

7

Whole-body muscle magnetic resonance imaging in SEPN1 -related myopathy shows a homogeneous and recognizable pattern

Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Ge

Journal:

Year:

2015

Language:

english

File:

PDF, 321 KB

english, 2015

8

Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid

Labrune, Philippe, Fabre, Monique, Trioche, Pascale, Estournet-Mathiaud, Brigitte, Grangeponte, Marie-Claire, Rambaud, Caroline, Maurage, Chantal, Bernard, Olivier

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 759 KB

english, 1999

9

Multi-minicore disease–searching for boundaries: Phenotype analysis of 38 cases

Ana Ferreiro, Brigitte Estournet, Danielle Chateau, Norma B. Romero, Cécile Laroche, Sylvie Odent, Annick Toutain, Ana Cabello, Daniel Fontan, Heloísa G. Dos Santos, Charles-Antoine Haenggeli, Enrico

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 4.81 MB

english, 2000

10

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Louis Viollet, Annie Barois, Jean G. Rebeiz, Ziad Rifai, Philippe Burlet, Mohammed Zarhrate, Elodie Vial, Michel Dessainte, Brigitte Estournet, Bernard Kleinknecht, John Pearn, Raymond D. Adams, Jon A

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 430 KB

english, 2002

11

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano-Roy, Yeliz Yuva, Ralf Herrmann, Susan C. Brown, Silvia Torelli, Victor Dubowitz, Derek J. Blake, Norma B. Romero, Brigitte Estournet,

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 168 KB

english, 2003

12

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

Nigel F. Clarke, Warren Kidson, Susana Quijano-Roy, Brigitte Estournet, Ana Ferreiro, Pascale Guicheney, James I. Manson, Andrew J. Kornberg, Lloyd K. Shield, Kathryn N. North

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

13

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

Nicole Monnier, Isabelle Marty, Julien Faure, Claudia Castiglioni, Claude Desnuelle, Sabrina Sacconi, Brigitte Estournet, Ana Ferreiro, Norma Romero, Annie Laquerriere, Leila Lazaro, Jean-Jacques Mart

Journal:

Year:

2008

Language:

english

File:

PDF, 325 KB

english, 2008

14

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

15

Tracheostomy in chronic lung disease: Care and follow-up

Estournet-Mathiaud, Brigitte

Journal:

Pediatric Pulmonology

Year:

2001

Language:

english

File:

PDF, 211 KB

english, 2001

16

Tracheostomy in chronic lung disease: Care and follow-up

Dr. Brigitte Estournet-Mathiaud

Journal:

Pediatric Pulmonology

Year:

2001

Language:

english

File:

PDF, 211 KB

english, 2001

17

Plasma exchange in the treatment of myasthenia gravis

B. Estournet, Ph. Gajdos, A. Bussel, M. Goulon

Journal:

Intensive Care Medicine

Year:

1979

Language:

english

File:

PDF, 97 KB

english, 1979

18

Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities

Jean Dubousset, Ph. Wicart, V. Pomero, A. Barois, B. Estournet

Journal:

Journal of Orthopaedic Science

Year:

2003

Language:

english

File:

PDF, 371 KB

english, 2003

19

NewFKRPmutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, NormaB. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Journal:

Year:

2004

Language:

english

File:

PDF, 768 KB

english, 2004

20

Riluzole pharmacokinetics in young patients with spinal muscular atrophy

Chadi Abbara, Brigitte Estournet, Lucette Lacomblez, Benedicte Lelièvre, Amal Ouslimani, Blandine Lehmann, Louis Viollet, Annie Barois, Bertrand Diquet

Journal:

British Journal of Clinical Pharmacology

Year:

2011

Language:

english

File:

PDF, 892 KB

english, 2011

21

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 988 KB

english, 2011

22

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

23

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

24

Impacts psychologiques des amyotrophies spinales infantiles : éclairages théoriques et témoignages

P. Jouinot, A. Barois, C. Grisard, B. Paumier, B. Estournet

Journal:

Neuropsychiatrie de l'Enfance et de l'Adolescence

Year:

2008

Language:

french

File:

PDF, 120 KB

french, 2008

25

263 Multi-minicore disease myopathy: 20 cases

B. Estournet-Mathiaud, A. Barois, J. Bataille

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 123 KB

english, 1999

26

262 Merosine-positive congenital dystrophies

B. Estournet-Mathiaud, A. Barois, J. Bataille

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 123 KB

english, 1999

27

Humoral and Cellular Immunity to Intrinsic Factor in Myasthenia Gravis

J. Zittoun, M. Tulliez, B. Estournet, M. Goulon

Journal:

European Journal of Haematology

Year:

1979

Language:

english

File:

PDF, 435 KB

english, 1979

28

Dystrophies musculaires congénitales. À propos des formes avec déficience en mérosine

J.A. Urtizberea, A. Barois, B. Estournet-Matthiaud

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 138 KB

1995

29

Histoire naturelle des amyotrophies spinales infantiles (ASI). A propos de 273 cas

B. Estournet, A. Barois, D. Leclair-Richard, L. Viollet

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 100 KB

1996

30

À propos d'un cas de dystrophie musculaire congénitale de type occidental avec mutation ponctuelle dans le gène condant pour la mérosine

J.A. Urtizberea, B. Estournet-Mathiaud, A. Barois, F. Tomé, M. Fardeau, P. Guicheney

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 282 KB

1996

31

Néphropathie interstitielle aiguë immunoallergique néonatale : à propos d’un cas

A. Essid, N. Allani-Essid, R. Rubinsztajn, B. Estournet, J. Bataille

Journal:

Archives de Pédiatrie

Year:

2010

File:

PDF, 164 KB

2010

32

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

Heinz Jungbluth, Alan Beggs, Carsten Bönnemann, Kate Bushby, Chantal Ceuterick-de Groote, Brigitte Estournet-Mathiaud, Nathalie Goemans, Pascale Guicheney, Alain Lescure, Joël Lunardi, Francesco Munto

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

33

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands

E. Bertini, A. Burghes, K. Bushby, B. Estournet-Mathiaud, R.S. Finkel, R.A.C. Hughes, S.T. Iannaccone, J. Melki, E. Mercuri, F. Muntoni, T. Voit, B. Reitter, K.J. Swoboda, D. Tiziano, E. Tizzano, H. T

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 180 KB

english, 2005

34

P.P.1 02 Combined approaches to diagnosis of congenital muscular dystrophies with α-dystroglycan hypoglycosylation

C. Bouchet, H. Manya, A. Yanagisawa, S. Maugenre, S. Quijano-Roy, B. Estournet, L. Merlini, H. Topaloglu, N.B. Romero, F. Leturcq, N. Seta, T. Endo, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

35

G.P.7 01 Whole-body muscular MRI in early-onset muscle diseases

P. Cuvelier, S. Quijano-Roy, S. Chaabane, A. Ferreiro, D. Fisher, D. Orlikowski, N. Pellegrini, M. Hamida, N.B. Romero, P. Guicheney, P. Richard, B. Estournet, R.Y. Carlier

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

36

C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?

C. Vincitorio, V. Carmignac, M. Beuvin, B. Estournet, S. Quijano-Roy, A. Barois, F. Boyer, Y. Chaix, B. Eymard, N. Goemans, S. Iannaccone, L. Lazaro, D. Menard, V. Straub, P. Richard, L. Viollet, E. B

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

37

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

P. Richard, C. Ledeuil, C. Gartioux, L. Torrieri, L. Briñas, A. Ferreiro, A. Toutain, S. Makri, E. Ollagnon, B. Eymard, S. Quijano-Roy, B. Estournet, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

38

C.O.3 Endoplasmic reticulum retention of COL6 chains in Ullrich congenital muscular dystrophy

V. Allamand, C. Gartioux, E. Lacène, J. Lainé, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Viollet, P. Jeannet, D. Herlicoviez, M. Penniello-Valette, P. Richard, B. Estournet, N. Romero, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

39

C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation

L. Briñas, C. Gartioux, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Merlini, H. Topaloglu, F. Roelens, V. Hovers, P. Jeannet, B. Estournet, P. Richard, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 65 KB

english, 2007

40

G.P.13.14 A new form of congenital myopathy with severe fibre immaturity

H. Amthor, S. Quijano-Roy, M. Mayer, K. Maincent, B. Estournet, J. Bataille, A. Essid, A. Lombes, P. Guicheney, M. Fardeau, K. Claeys, C. Rambaud, A. Gelot, G. Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

41

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

S. Vuillaumier-Barrot, S. Quijano-Roy, C. Bouchet-Seraphin, S. Maugenre, S. Peudenier, P. Van den Bergh, P. Marcorelles, D. Avila-Smirnow, M. Chelbi, N.B. Romero, R.Y. Carlier, B. Estournet, P. Guiche

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 2.49 MB

english, 2009

42

G.P.7.04 Mosaic of an ACTA1 mutation in a child with nemaline myopathy and cardiomyopathy

H. Amthor, S. Quijano-Roy, S. Drouhin, K.G. Claeys, J. Bataille, B. Estournet, N.B. Romero, N. Monnier, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

43

G.P.7.05 Prognosis of neonatal onset nemaline myopathy without molecular diagnosis

L. Servais, S. Quijano-Roy, B. Estournet, N. Laing, T. Voit, N.B. Romero

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

44

EM.P.4.02 Comprehensive clinical, cellular and molecular assessment of 64 French families with COL6-related muscle disorders: Clues for genotype/phenotype correlations

P. Richard, L. Briñas, S. Quijano-Roy, C. Ledeuil, A. Ferreiro, C. Gartioux, I. Pénisson-Besnier, A. Béhin, P. Laforet, M. Mayer, L. Viollet, P. Guicheney, B. Eymard, B. Estournet, T. Stojkovic, V. Al

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

45

P2.37 Long term prognosis of congenital myasthenic syndromes (CMS): The French CMS network experience

B. Eymard, N. Alexandri, A. Ben Ammar, F. Petit, I. Wargon, P. Laforêt, T. Stojkovic, A. Béhin, B. Estournet, M. Mayer, L. Viollet, E. Fournier, M. Fardeau, D. Orlikowski, J. Pouget, C. Desnuelle, I.

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

46

P4.33 The Motor Function Measure (MFM), an outcome measure for neuromuscular disorders: Preliminary results in congenital muscular dystrophy (CMD)

C.A.M. Payan, D. de Castro, S. Quijano-Roy, T. Stojkovic, C. Bérard, B. Estournet

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

47

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

48

P5.14 Challenges in diagnosis and management of a patient with severe congenital myasthenic syndrome mutated in CHRNE

J. Linzoain, D. Avila-Smirnov, N. Essid, R. Rubinzstajn, V. Bigué, F. Renault, G. Bassez, D. Sternberg, B. Estournet, S. Quijano-Roy

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

49

P2.4 Searching for pulmonary outcome measures in ’Early Onset’ COL6-related myopathy

S. Wehbi, N. Essid, L. Briñas, D. Leclair-Richard, L. Viollet, N.B. Romero, P. Richard, V. Allamand, B. Estournet, S. Quijano-Roy

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

50

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

Mohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, Anthony Béhin, Daniela Avila-Smirnov, Norma Beatriz Romero, Valérie Allamand, Pascale Richard, Annie Barois, Adrien May, Brigitte Estournet, Eugeni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

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