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Annie Barois

Research Profile

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Mohamed Jarraya; Adrien May; Eugenio Mercuri; Nicole Monnier; Susana Quijano-Roy; Pascale Richard; Norma Beatriz Romero; Valérie Allamand; Daniela Avila-Smirnov; Annie Barois; Anthony Béhin; Pierre G Carlier; Brigitte Estournet; Robert Carlier
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
Rabah Ben Yaou; Claire Navarro; Susana Quijano-Roy; Anne T Bertrand; Catherine Massart; Annachiara De Sandre-Giovannoli; Juan Cadiñanos; Kamel Mamchaoui; Gillian Butler-Browne; Brigitte Estournet; Pascale Richard; Annie Barois; Nicolas Lévy; Gisèle Bonne
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Chadi Abbara; Brigitte Estournet; Lucette Lacomblez; Benedicte Lelièvre; Amal Ouslimani; Blandine Lehmann; Louis Viollet; Annie Barois; Bertrand Diquet
Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

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All Publications

2012: Mohamed Jarraya; Adrien May; Eugenio Mercuri; Nicole Monnier; Susana Quijano-Roy; Pascale Richard; Norma Beatriz Romero; Valérie Allamand; Daniela Avila-Smirnov; Annie Barois; Anthony Béhin; Pierre G Carlier; Brigitte Estournet; Robert Carlier
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
Neuromuscular disorders : NMD 2012;22 Suppl 2():S137-47.
2011: Rabah Ben Yaou; Claire Navarro; Susana Quijano-Roy; Anne T Bertrand; Catherine Massart; Annachiara De Sandre-Giovannoli; Juan Cadiñanos; Kamel Mamchaoui; Gillian Butler-Browne; Brigitte Estournet; Pascale Richard; Annie Barois; Nicolas Lévy; Gisèle Bonne
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
European journal of human genetics : EJHG 2011;19(6):647-54.
2011: Chadi Abbara; Brigitte Estournet; Lucette Lacomblez; Benedicte Lelièvre; Amal Ouslimani; Blandine Lehmann; Louis Viollet; Annie Barois; Bertrand Diquet
Riluzole pharmacokinetics in young patients with spinal muscular atrophy.
British journal of clinical pharmacology 2011;71(3):403-10.
2008: Susana Quijano-Roy; Blaise Mbieleu; Carsten G Bönnemann; Pierre-Yves Jeannet; Jaume Colomer; Nigel F Clarke; Jean-Marie Cuisset; Helen Roper; Linda De Meirleir; Adele D'Amico; Rabah Ben Yaou; Andrés Nascimento; Annie Barois; Laurence Demay; Enrico Bertini; Ana Ferreiro; Caroline A Sewry; Norma B Romero; Monique Ryan; Francesco Muntoni; Pascale Guicheney; Pascale Richard; Gisèle Bonne; Brigitte Estournet
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
2007: Claire Do Ngoc Thanh; Annie Barois; Brigitte Estournet-Mathiaud; Jacques Bataille; Christine Ioos
[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation].
Bulletin de l'Académie nationale de médecine 2007;191(7):1411-29; discussion 1429-32.
2007: Kristen J Nowak; Caroline A Sewry; Carmen Navarro; Waney Squier; Cristina Reina; José R Ricoy; Sandeep S Jayawant; Anne-Marie Childs; J Angus Dobbie; Richard E Appleton; Roger C Mountford; Kendall R Walker; Sophie Clement; Annie Barois; Francesco Muntoni; Norma B Romero; Nigel G Laing
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Annals of neurology 2007;61(2):175-84.
2006: Isabelle Maystadt; Mohamed Zarhrate; Danièle Leclair-Richard; Brigitte Estournet; Annie Barois; Francis Renault; MC Routon; M-C Durand; Suzie Lefebvre; Arnold Munnich; Christine Verellen-Dumoulin; Louis Viollet
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.
Neurology 2006;67(1):120-4.
2006: Odile Dubourg; Hamid Azzedine; R Ben Yaou; J Pouget; Annie Barois; Vincent Meininger; D Bouteiller; Merle Ruberg; Alexis Brice; Eric LeGuern
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Neurology 2006;66(11):1721-6.
2006: Jean-Marie Cuisset; Claude-Alain Maurage; J F Pellissier; Annie Barois; J Andoni Urtizberea; N Laing; H Tajsharghi; Louis Vallée
'Cap myopathy': case report of a family.
Neuromuscular disorders : NMD 2006;16(4):277-81.
2005: Annie Barois; Michèle Mayer; Isabelle Desguerre; Brigitte Chabrol; Carole Berard; Jean-Marie Cuisset; Danièle Leclair-Richard; Jacqueline Visconti-Lougovoy; Françoise Hatton; Brigitte Estournet-Mathiaud
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].
Bulletin de l'Académie nationale de médecine 2005;189(6):1181-98; discussion 1198-9.
2004: Norma B Romero; Serge Braun; Olivier Benveniste; France Leturcq; Jean-Yves Hogrel; Glenn E Morris; Annie Barois; Bruno Eymard; Christine Payan; Véronique Ortega; Anne-Laure Boch; Lise Lejean; Christine Thioudellet; Brigitte Mourot; Christophe Escot; Aurore Choquel; Dominique Recan; Jean-Claude Kaplan; George Dickson; David Klatzmann; Valérie Molinier-Frenckel; Jean-Gérard Guillet; Patrick Squiban; Serge Herson; Michel Fardeau
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
Human gene therapy 2004;15(11):1065-76.
2004: Christine Ioos; Danièle Leclair-Richard; Slah Mrad; Annie Barois; Brigitte Estournet-Mathiaud
Respiratory capacity course in patients with infantile spinal muscular atrophy.
Chest 2004;126(3):831-7.
2004: Christine Ioos; Annie Barois; Pascale Richard; Bruno Eymard; Daniel Hantaï; Brigitte Estournet-Mathiaud
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
Neuropediatrics 2004;35(4):246-9.
2004: Louis Viollet; Mohamed Zarhrate; Isabelle Maystadt; Brigitte Estournet-Mathiaut; Annie Barois; Isabelle Desguerre; Michèle Mayer; Brigitte Chabrol; Bruno Leheup; Veronica Cusin; Thierry Billette de Villemeur; Dominique Bonneau; Pascale Saugier-Veber; Anne Touzery-De Villepin; Anne Delaubier; Jocelyne Kaplan; Marc Jeanpierre; JOSUE FEINGOLD; Arnold Munnich
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
European journal of human genetics : EJHG 2004;12(6):483-8.
2004: Bruno Eymard; Christine Ioos; Annie Barois; Brigitte Estournet; Michèle Mayer; Emmanuel Fournier; Eriko Yasaki; Cassandra Prioleau; Stéphanie Bauché; Karen Gaudon; Jean-Paul Leroy; Jeanine Koenig; Pascale Richard; Daniel Hantaï
[Congenital myasthenic syndromes due to mutations in the rapsyn gene].
Revue neurologique 2004;160(5 Pt 2):S78-84.
2003: Fawzia Cheliout-Heraut; Annie Barois; Andoni Urtizberea; Louis Viollet; Brigitte Estournet-Mathiaud
Evoked potentials in spinal muscular atrophy.
Journal of child neurology 2003;18(6):383-90.
2003: Pascale Richard; Karen Gaudon; Frédéric Andreux; Eriko Yasaki; Cassandra Prioleau; Stéphanie Bauché; Annie Barois; Christine Ioos; Michèle Mayer; MC Routon; M Mokhtari; Jean-Paul Leroy; Emmanuel Fournier; Bernard Hainque; Jeanine Koenig; Michel Fardeau; Bruno Eymard; Daniel Hantaï
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Journal of medical genetics 2003;40(6):e81.
2003: Jean Dubousset; Philippe Wicart; Vincent Pomero; Annie Barois; Brigitte Estournet
Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2003;8(1):41-9.
2002: Susana Quijano-Roy; Lucía Galan; Ana Ferreiro; Fawzia Cheliout-Héraut; Françoise Gray; Michel Fardeau; Annie Barois; Pascale Guicheney; Norma B Romero; Brigitte Estournet
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.
Neuromuscular disorders : NMD 2002;12(5):466-75.
2002: Louis Viollet; Annie Barois; Jean G Rebeiz; Ziad Rifai; Philippe Burlet; Mohamed Zarhrate; Elodie Vial; Michel Dessainte; Brigitte Estournet; Bernard Kleinknecht; John Pearn; Raymond D Adams; J Andoni Urtizberea; Didier Cros; Kate Bushby; Arnold Munnich; Suzie Lefebvre
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
Annals of neurology 2002;51(5):585-92.
2002: Jean Dubousset; Philippe Wicart; Vincent Pomero; Annie Barois; Brigitte Estournet
[Thoracic scoliosis: exothoracic and endothoracic deformations and the spinal penetration index].
Revue de chirurgie orthopédique et réparatrice de l'appareil moteur 2002;88(1):9-18.
2001: Y He; K J Jones; Nicolas Vignier; G Morgan; M Chevallay; Annie Barois; Brigitte Estournet-Mathiaud; H Hori; T Mizuta; Fernando M S Tomé; K N North; Pascale Guicheney
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Neurology 2001;57(7):1319-22.
2001: Gaëtan Lesca; Isabelle Cournu-Rebeix; Ariele Azoulay-Cayla; Olivier Lyon-Caen; Annie Barois; O Dulac; Bertrand Fontaine
[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity].
Revue neurologique 2001;157(10):1279-81.
2000: André Mégarbané; I Desguerres; E Rizkallah; Valérie Delague; R Nabbout; Annie Barois; Andoni Urtizberea
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?
American journal of medical genetics 2000;92(2):117-21.
2000: Luciano Merlini; Jean-Claude Kaplan; C Navarro; Annie Barois; Dominique Bonneau; J Brasa; B Echenne; Pía Gallano; L Jarre; Marc Jeanpierre; Luba Kalaydjieva; France Leturcq; A Levi-Gomes; Annick Toutain; Ivailo Tournev; Andoni Urtizberea; J M Vallat; T Voit; J M Warter
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
1999: Behzad Moghadaszadeh; Haluk Topaloglu; Luciano Merlini; Francesco Muntoni; Brigitte Estournet; Caroline Sewry; IS Naom; Annie Barois; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: C Ravard-Goulvestre; Catherine Boucly; Bertille Mathieu; Geneviève Van Amerongen; Louis Viollet; Brigitte Estournet; Annie Barois; Philippe de Mazancourt
Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy.
Clinical chemistry and laboratory medicine : CCLM / FESCC 1999;37(2):133-5.
1998: Pascale Guicheney; Nicolas Vignier; X Zhang; Y He; C Cruaud; V Frey; AH Helbling-Leclerc; Pascale Richard; Brigitte Estournet; Luciano Merlini; Haluk Topaloglu; Marina Mora; J P Harpey; Christine Haenggeli; Annie Barois; Bernard Hainque; Ketty Schwartz; Fernando M S Tomé; Michel Fardeau; K Tryggvason
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Journal of medical genetics 1998;35(3):211-7.
1998: S Lamer; Robert Carlier; Jean-Marc Pinard; Dominique M Mompoint; C Bagard; E Burdairon; Brigitte Estournet; Annie Barois; Christian Vallée
Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.
Radiology 1998;206(3):811-6.
1997: Pascale Guicheney; Nicolas Vignier; AH Helbling-Leclerc; M Nissinen; X Zhang; C Cruaud; J C Lambert; C Richelme; Haluk Topaloglu; Luciano Merlini; Annie Barois; Ketty Schwartz; Fernando M S Tomé; K Tryggvason; Michel Fardeau
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Neuromuscular disorders : NMD 1997;7(3):180-6.
1997: Annie Barois; Brigitte Estournet-Mathiaud
Respiratory problems in spinal muscular atrophies.
Pediatric pulmonology. Supplement 1997;16():140-1.
1996: M Fardeau; Fernando M S Tomé; AH Helbling-Leclerc; T Evangelista; A Ottolini; M Chevallay; Annie Barois; Brigitte Estournet; J P Harpey; S Fauré; Pascale Guicheney; D Hillaire
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
Revue neurologique 1996;152(1):11-9.
1995: AH Helbling-Leclerc; Haluk Topaloglu; Fernando M S Tomé; C Sewry; G Gyapay; IS Naom; Francesco Muntoni; Victor Dubowitz; Annie Barois; Brigitte Estournet
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(12):1245-52.
1994: M C Commare; S P Kurstjens; Annie Barois
Diaphragmatic paralysis in children: a review of 11 cases.
Pediatric pulmonology 1994;18(3):187-93.
1994: Fernando M S Tomé; T Evangelista; A Leclerc; Y Sunada; E Manole; Brigitte Estournet; Annie Barois; K P Campbell; M Fardeau
Congenital muscular dystrophy with merosin deficiency.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(4):351-7.
1994: patrice nordmann; M C Commare; Esthel Ronco; Annie Barois; C Nauciel
Mediastinitis due to non-typhi Salmonella.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1994;18(2):255-6.
1993: M C Commare; B François; Brigitte Estournet; Annie Barois
Ondine's curse: a discussion of five cases.
Neuropediatrics 1993;24(6):313-8.
1993: F Hachfi-Soussi; V Coudert; R Biron; Annie Barois
[Acute quinine poisoning treated with high dose of diazepam].
Archives françaises de pédiatrie 1993;50(6):485-8.
1992: B François; patrice nordmann; Annie Barois
[Whooping cough with Bordetella parapertussis isolation in an HIV positive child].
Archives françaises de pédiatrie 1992;49(3):197-8.
1992: patrice nordmann; B François; F D Menozzi; M C Commare; Annie Barois
Whooping cough associated with Bordetella parapertussis in a human immunodeficiency virus-infected child.
The Pediatric infectious disease journal 1992;11(3):248.
1991: J Bataille; F Guillon; A Urtizberea; Brigitte Estournet; S Richard; Annie Barois
[Pathological anatomy of the heart in myopathies and infantile muscular atrophies].
Annales de médecine interne 1991;142(1):5-8.
1991: Brigitte Estournet; Charles Duyckaerts; C Marsac; N Chabbi; J Bataille; Annie Barois; JEAN-JACQUES HAUW; M Goulon
[Familial mitochondrial encephalopathy. A clinicopathologic study].
Revue neurologique 1991;147(6-7):491-6.
1989: Brigitte Estournet; Annie Barois
[Oxygen therapy and assisted ventilation in children at home].
La Revue du praticien 1989;39(21):1861-6.
1989: Annie Barois; Brigitte Estournet; G Duval-Beaupère; J Bataille; D Leclair-Richard
[Infantile spinal muscular atrophy].
Revue neurologique 1989;145(4):299-304.
1987: Christiane Chabenat; N Moore; J L Flipo; Annie Barois; F Boismare; P Boucly
[Diffusion of vancomycin in the cerebrospinal fluid, in the dog, in the absence of meningeal inflammation].
Pathologie-biologie 1987;35(9):1235-8.
1987: H Descamps; J Bataille; Brigitte Estournet; Annie Barois
[Myasthenia in children: long-term course].
Annales de médecine interne 1987;138(8):615-9.
1986: Annie Barois; Brigitte Estournet; J B Moranne; J Piliot; Christiane Chabenat; J Bataille
[Ventricular staphylococcal infections. Treatment with vancomycin by continuous venous infusion].
Presse médicale (Paris, France : 1983) 1986;15(36):1805-8.
1986: Jean-Claude Raphael; C Masson; V Morice; D Brunel; Philippe Gajdos; Annie Barois; M Goulon
[The Landry-Guillain-Barré syndrome. Study of prognostic factors in 223 cases].
Revue neurologique 1986;142(6-7):613-24.
1985: Annie Barois; Brigitte Estournet; S Baron; M Levy-Alcover
[Long-term prognosis of states of prolonged convulsive disorders. Apropos of 29 cases of states of convulsive disorders in excess of 24 hours].
Annales de pédiatrie 1985;32(7):621-6.
1985: Annie Barois; J Bataille; Brigitte Estournet
[Oral ventilation at home in children with neuromuscular diseases].
Agressologie: revue internationale de physio-biologie et de pharmacologie appliquées aux effets de l'agression 1985;26(8):645-9.
1985: G Duval-Beaupère; Annie Barois; I Quinet; Brigitte Estournet
[Respiratory, spinal and thoracic problems in children with prolonged infantile spinal amyotrophy].
Archives françaises de pédiatrie 1985;42 Suppl 1():625-34.
1984: H D Outin; A Chatelin; Esthel Ronco; C Nauciel; Philippe Gajdos; Annie Barois; M Goulon
[Aeromonas hydrophila septicemia: 3 cases, 1 with mediastinitis].
Annales de médecine interne 1984;135(4):287-90.
1982: J B Moranne; Brigitte Estournet; A Adrien; M C Seurat; Annie Barois
[Staphylococcus, the most frequent agent of serious complications of acute sinusitis in children. 5 cases].
Annales de médecine interne 1982;133(7):462-7.
1981: P Gajdos; Annie Barois; M Goulon
[Effects of assisted ventilation on cerebral circulation and intracranial pressure].
Annales de l'anesthésiologie française 1981;22(5):477-82.