Estournet, Brigitte: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

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

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

3

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

Susana Quijano-Roy, Lucı́a Galan, Ana Ferreiro, Fawzia Cheliout-Héraut, Françoise Gray, Michel Fardeau, Annie Barois, Pascale Guicheney, Norma B Romero, Brigitte Estournet

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 503 KB

english, 2002

4

Les principaux changements apportés par la trachéotomie chez des enfants atteints de maladies neuromusculaires

Rul, Brigitte, Quijano-Roy, Susana, Golse, Anne, Beynier, Dominique, Estournet, Brigitte, Desguerre, Isabelle, Barnerias, Christine, Herve, Christian

Journal:

Recherche en soins infirmiers

Year:

2013

Language:

french

File:

PDF, 678 KB

french, 2013

5

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

6

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

7

Muscle histopathology innebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, M

Journal:

Acta Neuropathologica Communications

Year:

2014

Language:

english

File:

PDF, 651 KB

english, 2014

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

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

10

Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy

Ioos, Christine, Leclair-Richard, Danièle, Mrad, Slah, Barois, Annie, Estournet-Mathiaud, Brigitte

Journal:

Year:

2004

Language:

english

File:

PDF, 299 KB

english, 2004

11

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A.

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

12

Diaphragmatic dysfunction in SEPN1-related myopathy

Caggiano, Serena, Khirani, Sonia, Dabaj, Ivana, Cavassa, Eliana, Amaddeo, Alessandro, Arroyo, Jorge Olmo, Desguerre, Isabelle, Richard, Pascale, Cutrera, Renato, Ferreiro, Ana, Estournet, Brigitte, Qu

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 882 KB

english, 2017

13

Ondine's Curse: A Discussion of Five Cases

Commare, Marie, François, Bénédicte, Estournet, Brigitte, Barois, Annie

Journal:

Neuropediatrics

Year:

1993

Language:

english

File:

PDF, 187 KB

english, 1993

14

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

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

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

17

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

18

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

19

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

20

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

21

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

22

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children

Catteruccia, Michela, Vuillerot, Carole, Vaugier, Isabelle, Leclair, Danielle, Azzi, Viviane, Viollet, Louis, Estournet, Brigitte, Bertini, Enrico, Quijano-Roy, Susana

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 300 KB

english, 2015

23

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

Bolocan, Anamaria, Quijano-Roy, Susana, Seferian, Andreea M., Baumann, Clarisse, Allamand, Valérie, Richard, Pascale, Estournet, Brigitte, Carlier, Robert, Cavé, Hélène, Gartioux, Corine, Blin, Nathal

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

24

Allele-Specific Amplification for the Diagnosis of Autosomal Recessive Spinal Muscular Atrophy

Ravard-Goulvestre, Claire, Boucly, Catherine, Mathieu, Bertille, Van Amerongen, Geneviève, Viollet, Louis, Estournet, Brigitte, Barois, Annie, de Mazancourt, Philippe

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

25

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

26

90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands

Luciano Merlini, Brigitte Estournet-Mathiaud, Susan Iannaccone, Judith Melki, Francesco Muntoni, Sabine Rudnik-Schöneborn, Haluk Topaloǧlu, Giuseppe Vita, Thomas Voit

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 115 KB

english, 2002

27

Quels accompagnements à l’hôpital pour un enfant atteint d’amyotrophie spinale de type I et sa famille ?

Jouinot, Patricia, Estournet, Brigitte

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Year:

2010

Language:

french

File:

PDF, 176 KB

french, 2010

28

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

29

Effect of salbutamol on respiratory muscle strength in spinal muscular atrophy

Khirani, Sonia, Dabaj, Ivana, Amaddeo, Alessandro, Olmo Arroyo, Jorge, Ropers, Jacques, Tirolien, Stéphane, Coudert, Véronique, Estournet, Brigitte, Fauroux, Brigitte, Quijano-Roy, Susana

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 679 KB

english, 2017

30

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

Behzad Moghadaszadeh, Haluk Topaloglu, Luciano Merlini, Francesco Muntoni, Brigitte Estournet, Caroline Sewry, Isam Naom, Annie Barois, Michel Fardeau, Fernando M.S. Tomé, Pascale Guicheney

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

31

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

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски