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Items: 1 to 50 of 140

1.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, Bouchet-Séraphin C, Romero NB, Rio M, Quijano-Roy S, Ferreiro A.

J Neuromuscul Dis. 2020;7(1):69-76. doi: 10.3233/JND-190413.

PMID:
31796684
2.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
3.

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

Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S137-47. doi: 10.1016/j.nmd.2012.06.347.

PMID:
22980765
4.

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

Abbara C, Estournet B, Lacomblez L, Lelièvre B, Ouslimani A, Lehmann B, Viollet L, Barois A, Diquet B.

Br J Clin Pharmacol. 2011 Mar;71(3):403-10. doi: 10.1111/j.1365-2125.2010.03843.x.

5.

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

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.

6.

Core-rod myopathy caused by mutations in the nebulin gene.

Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C.

Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. No abstract available.

PMID:
19805734
7.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877
8.

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B.

Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.

PMID:
18551513
9.

[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation].

Do Ngoc Thanh C, Barois A, Estournet-Mathiaud B, Bataille J, Ioos C.

Bull Acad Natl Med. 2007 Oct;191(7):1411-29; discussion 1429-32. French.

PMID:
18447062
10.

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG.

Ann Neurol. 2007 Feb;61(2):175-84.

PMID:
17187373
11.

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E.

Neurology. 2006 Jun 13;66(11):1721-6. Erratum in: Neurology. 2006 Aug 22;67(4):727.

PMID:
16769947
12.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L.

Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25.

PMID:
16728649
13.

'Cap myopathy': case report of a family.

Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallée L.

Neuromuscul Disord. 2006 Apr;16(4):277-81. Epub 2006 Mar 13.

PMID:
16531045
14.

[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].

Barois A, Mayer M, Desguerre I, Chabrol B, Berard C, Cuisset JM, Leclair-Richard D, Visconti-Lougovoy J, Hatton F, Estournet-Mathiaud B.

Bull Acad Natl Med. 2005 Jun;189(6):1181-98; discussion 1198-9. French.

PMID:
16433443
15.

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

Romero NB, Braun S, Benveniste O, Leturcq F, Hogrel JY, Morris GE, Barois A, Eymard B, Payan C, Ortega V, Boch AL, Lejean L, Thioudellet C, Mourot B, Escot C, Choquel A, Recan D, Kaplan JC, Dickson G, Klatzmann D, Molinier-Frenckel V, Guillet JG, Squiban P, Herson S, Fardeau M.

Hum Gene Ther. 2004 Nov;15(11):1065-76.

PMID:
15610607
16.

Respiratory capacity course in patients with infantile spinal muscular atrophy.

Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B.

Chest. 2004 Sep;126(3):831-7.

PMID:
15364763
17.

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B.

Neuropediatrics. 2004 Aug;35(4):246-9.

PMID:
15328566
18.

[Congenital myasthenic syndromes due to mutations in the rapsyn gene].

Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy JP, Koenig J, Richard P, Hantaï D.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S78-84. Review. French.

PMID:
15269664
19.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A.

Eur J Hum Genet. 2004 Jun;12(6):483-8.

20.

Evoked potentials in spinal muscular atrophy.

Cheliout-Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-Mathiaud B.

J Child Neurol. 2003 Jun;18(6):383-90.

PMID:
12886971
21.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D.

J Med Genet. 2003 Jun;40(6):e81. No abstract available.

22.

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

Dubousset J, Wicart P, Pomero V, Barois A, Estournet B.

J Orthop Sci. 2003;8(1):41-9.

PMID:
12560885
23.

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

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S.

Ann Neurol. 2002 May;51(5):585-92.

PMID:
12112104
24.

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

Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Héraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B.

Neuromuscul Disord. 2002 Jun;12(5):466-75.

PMID:
12031620
25.

[Thoracic scoliosis: exothoracic and endothoracic deformations and the spinal penetration index].

Dubousset J, Wicart P, Pomero V, Barois A, Estournet B.

Rev Chir Orthop Reparatrice Appar Mot. 2002 Feb;88(1):9-18. French.

PMID:
11973530
26.

[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity].

Lesca G, Cournu-Rebeix I, Azoulay-Cayla A, Lyon-Caen O, Barois A, Dulac O, Fontaine B.

Rev Neurol (Paris). 2001 Oct;157(10):1279-81. French.

PMID:
11885521
27.

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.

He Y, Jones KJ, Vignier N, Morgan G, Chevallay M, Barois A, Estournet-Mathiaud B, Hori H, Mizuta T, Tomé FM, North KN, Guicheney P.

Neurology. 2001 Oct 9;57(7):1319-22.

PMID:
11591858
28.

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A.

Am J Med Genet. 2000 May 15;92(2):117-21. Review.

PMID:
10797435
29.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM.

Neurology. 2000 Mar 14;54(5):1075-9.

PMID:
10720277
30.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.

Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P.

Neuromuscul Disord. 1999 Oct;9(6-7):376-82.

PMID:
10545040
31.

[Respiratory problems in severe scoliosis].

Barois A.

Bull Acad Natl Med. 1999;183(4):721-30. Review. French.

PMID:
10437294
32.

Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy.

Ravard-Goulvestre C, Boucly C, Mathieu B, Van Amerongen G, Viollet L, Estournet B, Barois A, de Mazancourt P.

Clin Chem Lab Med. 1999 Feb;37(2):133-5.

PMID:
10219501
33.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K.

J Med Genet. 1998 Mar;35(3):211-7.

34.

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

Lamer S, Carlier RY, Pinard JM, Mompoint D, Bagard C, Burdairon E, Estournet B, Barois A, Vallée C.

Radiology. 1998 Mar;206(3):811-6.

PMID:
9494506
35.

[Coma and its prognoses].

Barois A.

Soins Pediatr Pueric. 1997 May;(176):7-10. French. No abstract available.

PMID:
9239112
36.

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.

Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M.

Neuromuscul Disord. 1997 May;7(3):180-6.

PMID:
9185182
37.

Respiratory problems in spinal muscular atrophies.

Barois A, Estournet-Mathiaud B.

Pediatr Pulmonol Suppl. 1997;16:140-1. Review. No abstract available.

PMID:
9443243
38.

Thoracoabdominal pattern of breathing in neuromuscular disorders.

Perez A, Mulot R, Vardon G, Barois A, Gallego J.

Chest. 1996 Aug;110(2):454-61.

PMID:
8697851
39.

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D.

Rev Neurol (Paris). 1996 Jan;152(1):11-9. French.

PMID:
8729391
40.

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B, et al.

C R Acad Sci III. 1995 Dec;318(12):1245-52.

PMID:
8745640
41.

Autopsies of sudden infant death syndrome--classification and epidemiology.

Hatton F, Bouvier-Colle MH, Barois A, Imbert MC, Leroyer A, Bouvier S, Jougla E.

Acta Paediatr. 1995 Dec;84(12):1366-71.

PMID:
8645952
42.

Diaphragmatic paralysis in children: a review of 11 cases.

Commare MC, Kurstjens SP, Barois A.

Pediatr Pulmonol. 1994 Sep;18(3):187-93. Review.

PMID:
7800436
43.

Congenital muscular dystrophy with merosin deficiency.

Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M.

C R Acad Sci III. 1994 Apr;317(4):351-7.

PMID:
8000914
44.

Mediastinitis due to non-typhi Salmonella.

Nordmann P, Commare MC, Ronco E, Barois A, Nauciel C.

Clin Infect Dis. 1994 Feb;18(2):255-6. No abstract available.

PMID:
8161639
45.

Ondine's curse: a discussion of five cases.

Commare MC, François B, Estournet B, Barois A.

Neuropediatrics. 1993 Dec;24(6):313-8.

PMID:
8133976
46.

[Acute quinine poisoning treated with high dose of diazepam].

Hachfi-Soussi F, Coudert V, Biron R, Barois A.

Arch Fr Pediatr. 1993 Jun-Jul;50(6):485-8. French.

PMID:
8135608
47.

[Carbon monoxide poisoning].

Barois A.

Rev Infirm. 1993 Mar;43(6):42-3. French. No abstract available.

PMID:
8511493
48.

[Respiratory form mof myasthenia gravis].

Fauroux B, Trang H, Renolleau S, Boule M, Barois A, Tournier G.

Arch Fr Pediatr. 1992 Aug-Sep;49(7):633-5. French.

PMID:
1476481
49.

[Whooping cough with Bordetella parapertussis isolation in an HIV positive child].

François B, Nordmann P, Barois A.

Arch Fr Pediatr. 1992 Mar;49(3):197-8. French.

PMID:
1610277
50.

Whooping cough associated with Bordetella parapertussis in a human immunodeficiency virus-infected child.

Nordmann P, François B, Menozzi FD, Commare MC, Barois A.

Pediatr Infect Dis J. 1992 Mar;11(3):248. No abstract available.

PMID:
1565547

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