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Items: 1 to 50 of 74

1.

Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.

Khirani S, Dabaj I, Amaddeo A, Olmo Arroyo J, Ropers J, Tirolien S, Coudert V, Estournet B, Fauroux B, Quijano-Roy S.

Pediatr Neurol. 2017 Aug;73:78-87.e1. doi: 10.1016/j.pediatrneurol.2017.04.013. Epub 2017 Apr 20.

PMID:
28668232
2.

Diaphragmatic dysfunction in SEPN1-related myopathy.

Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B.

Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26.

PMID:
28606403
3.

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

Catteruccia M, Vuillerot C, Vaugier I, Leclair D, Azzi V, Viollet L, Estournet B, Bertini E, Quijano-Roy S.

J Neuromuscul Dis. 2015 Nov 21;2(4):453-462.

4.

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Gómez-Andrés D, Dabaj I, Mompoint D, Hankiewicz K, Azzi V, Ioos C, Romero NB, Ben Yaou R, Bergounioux J, Bonne G, Richard P, Estournet B, Yves-Carlier R, Quijano-Roy S.

Muscle Nerve. 2016 Aug;54(2):192-202. doi: 10.1002/mus.25018. Epub 2016 Feb 22.

PMID:
26670690
5.

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

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
6.

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

Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB.

Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.

PMID:
25070542
7.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

8.

[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].

Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I.

Arch Pediatr. 2014 Apr;21(4):347-54. doi: 10.1016/j.arcped.2014.01.017. Epub 2014 Mar 12. French.

PMID:
24630620
9.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PMID:
24319099
10.

Diaphragmatic dysfunction in Collagen VI myopathies.

Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B.

Neuromuscul Disord. 2014 Feb;24(2):125-33. doi: 10.1016/j.nmd.2013.11.002. Epub 2013 Nov 16.

PMID:
24314752
11.

[What a tracheostomy changes in a child with a neuromuscular disease].

Rul B, Quijano-Roy S, Golse A, Beynier D, Estournet B, Desguerre I, Barnerias C, Herve C.

Rech Soins Infirm. 2013 Sep;(114):46-57. French.

PMID:
24236398
12.

Respiratory care in neuromuscular disorders.

Estournet B.

Handb Clin Neurol. 2013;113:1485-90. doi: 10.1016/B978-0-444-59565-2.00018-6. Review.

PMID:
23622371
13.

Congenital myasthenic syndromes.

Eymard B, Hantaï D, Estournet B.

Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Review.

PMID:
23622369
14.

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 AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.

J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282.

PMID:
23339108
15.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.

Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11.

PMID:
23236030
16.

Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy.

Cuisset JM, Estournet B; French Ministry of Health.

Rev Neurol (Paris). 2012 Dec;168(12):902-9. doi: 10.1016/j.neurol.2012.07.020. Epub 2012 Oct 26. Review.

PMID:
23107878
17.

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
18.

Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context.

Rul B, Carnevale F, Estournet B, Rudler M, Hervé C.

Nurs Ethics. 2012 May;19(3):408-18. doi: 10.1177/0969733011429014. Epub 2012 Feb 8.

PMID:
22323397
19.

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.

20.

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.

21.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
22.

[A neonatal case of immunoallergic acute interstitial nephritis].

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

Arch Pediatr. 2010 Nov;17(11):1559-61. doi: 10.1016/j.arcped.2010.08.014. Epub 2010 Sep 28. French.

PMID:
20880680
23.

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, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J.

Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14.

PMID:
19602481
24.

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

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

Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.

PMID:
19179078
25.

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
26.

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

Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.

Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696.

PMID:
18253926
27.

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P.

Neuromuscul Disord. 2008 Jan;18(1):45-51. Epub 2007 Sep 14.

PMID:
17869517
28.

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A.

Ann Neurol. 2007 Apr;61(4):340-51. Erratum in: Ann Neurol. 2012 May;71(5):728.

PMID:
17444505
29.

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
30.

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Quijano-Roy S, Martí-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Carlier RY.

Brain Dev. 2006 May;28(4):232-42. Epub 2005 Dec 20.

PMID:
16368217
31.

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.

Ann Neurol. 2006 Mar;59(3):546-52.

PMID:
16365872
32.

[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
33.

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Quijano-Roy S, Renault F, Romero N, Guicheney P, Fardeau M, Estournet B.

Muscle Nerve. 2004 Feb;29(2):292-9.

PMID:
14755496
34.

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

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F.

Neurogenetics. 2004 Feb;5(1):27-34. Epub 2003 Dec 2.

35.

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

Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F.

Ann Neurol. 2003 Apr;53(4):537-42.

PMID:
12666124
36.

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
37.

Long-term noninvasive mechanical ventilation for children at home: a national survey.

Fauroux B, Boffa C, Desguerre I, Estournet B, Trang H.

Pediatr Pulmonol. 2003 Feb;35(2):119-25.

PMID:
12526073
38.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P.

Am J Hum Genet. 2002 Oct;71(4):739-49. Epub 2002 Aug 21.

39.

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
40.

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
41.

[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
42.

Prognostic value of evoked potentials and sleep recordings in the prolonged comatose state of children. Preliminary data.

Chéliout-Heraut F, Rubinsztajn R, Ioos C, Estournet B.

Neurophysiol Clin. 2001 Oct;31(5):283-92.

PMID:
11817270
43.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

44.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P.

Nat Genet. 2001 Sep;29(1):17-8.

PMID:
11528383
45.

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.

Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M.

Ann Neurol. 2000 Nov;48(5):745-57.

PMID:
11079538
46.

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
47.

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
48.

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.

49.

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
50.

[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

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