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Items: 1 to 20 of 47

1.

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group.

J Inherit Metab Dis. 2018 Aug 28. doi: 10.1007/s10545-018-0243-7. [Epub ahead of print]

PMID:
30155607
2.

Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.

Hachulla E, Le Masson G, Solé G, Hamidou M, Desnuelle C, Azulay JP, Besson G, Swiader L, Abad S, Antoine JC, Bouhour F, Créange A, Grenouillet M, Magy L, Marcel S, Paquet JM, Rouhart F, Ziegler F, Mathis S, Gauthier-Darnis M, Puget S.

Biomed Res Int. 2018 Mar 15;2018:8147251. doi: 10.1155/2018/8147251. eCollection 2018.

3.

Incobotulinum toxin A in Parkinson's disease with foot dystonia: A double blind randomized trial.

Rieu I, Degos B, Castelnovo G, Vial C, Durand E, Pereira B, Simonetta-Moreau M, Sangla S, Fluchère F, Guehl D, Burbaud P, Geny C, Gayraud D, Ory-Magne F, Bouhour F, Llinares E, Derost P, Marques A, Durif F.

Parkinsonism Relat Disord. 2018 Jan;46:9-15. doi: 10.1016/j.parkreldis.2017.10.009. Epub 2017 Oct 19.

PMID:
29102441
4.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.

PMID:
28712002
5.

Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.

Robert-Varvat F, Jousserand G, Bouhour F, Vial C, Cintas P, Echaniz-Laguna A, Delmont E, Clavelou P, Chauplannaz G, Jomir L, Pereon Y, Leonard-Louis S, Manel V, Antoine JC, Lacour A, Camdessanche JP.

Muscle Nerve. 2018 Feb;57(2):217-221. doi: 10.1002/mus.25666. Epub 2017 Jun 11.

PMID:
28407266
6.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.

PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.

7.

Peripheral small fiber dysfunction and neuropathic pain in patients with Morvan syndrome.

Laurencin C, André-Obadia N, Camdessanché JP, Mauguière F, Ong E, Vukusic S, Peter-Derex L, Meyronet D, Bouhour F, Vial C, Ducray F, Honnorat J, Petiot P.

Neurology. 2015 Dec 8;85(23):2076-8. doi: 10.1212/WNL.0000000000002037. Epub 2015 Sep 23. No abstract available.

PMID:
26400578
8.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S.

Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1.

9.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22.

PMID:
25535305
10.

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B.

Neurology. 2014 Dec 2;83(23):2133-9. doi: 10.1212/WNL.0000000000001047. Epub 2014 Nov 5.

11.

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Sacconi S, Wahbi K, Theodore G, Garcia J, Salviati L, Bouhour F, Vial C, Duboc D, Laforêt P, Desnuelle C.

Neuromuscul Disord. 2014 Jul;24(7):648-50. doi: 10.1016/j.nmd.2014.04.005. Epub 2014 Apr 24.

PMID:
24844452
12.
13.

Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score.

Vuillerot C, Rippert P, Roche S, Bérard C, Margirier F, de Lattre C, Poirot I, Berruyer A, Tiffreau V, Fournier-Mehouas M, Bouhour F, Urtizberea JA, Renders A, Ecochard R; Le groupe d’étude NM-Score.

Ann Phys Rehabil Med. 2013 Dec;56(9-10):673-86. doi: 10.1016/j.rehab.2013.10.002. Epub 2013 Oct 18.

14.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3.

PMID:
24008051
15.

Absence of airway secretion accumulation predicts tolerance of noninvasive ventilation in subjects with amyotrophic lateral sclerosis.

Vandenberghe N, Vallet AE, Petitjean T, Le Cam P, Peysson S, Guérin C, Dailler F, Jay S, Cadiergue V, Bouhour F, Court-Fortune I, Camdessanche JP, Antoine JC, Philit F, Beuret P, Bin-Dorel S, Vial C, Broussolle E.

Respir Care. 2013 Sep;58(9):1424-32. doi: 10.4187/respcare.02103. Epub 2013 Jan 15.

16.

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

Zyss J, Béhin A, Couvert P, Bouhour F, Sassolas A, Kolev I, Denys V, Vial C, Lacour A, Carrié A, Stojkovic T.

J Neurol. 2012 Jun;259(6):1222-6. doi: 10.1007/s00415-011-6340-2. Epub 2011 Dec 17.

PMID:
22179783
17.

Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI.

Hiba B, Richard N, Hébert LJ, Coté C, Nejjari M, Vial C, Bouhour F, Puymirat J, Janier M.

J Magn Reson Imaging. 2012 Mar;35(3):678-85. doi: 10.1002/jmri.22849. Epub 2011 Nov 8.

PMID:
22069222
18.

[Identification and characterization of a monoclonal IgM reacting with disialylated gangliosides recognizing the CANOMAD syndrome].

Boussaïd I, Bouhour F, Vial C, Caudie C.

Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):476-80. doi: 10.1684/abc.2011.0603. French.

19.

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Carra-Dalliere C, Horzinski L, Ayrignac X, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Sedel F, Guennoc AM, Sartori E, Laplaud D, Antoine JC, Fogli A, Boespflug-Tanguy O, Labauge P.

Rev Neurol (Paris). 2011 Nov;167(11):802-11. doi: 10.1016/j.neurol.2011.03.008. Epub 2011 Jun 14. French.

PMID:
21676421
20.

[Serum antibody profiles against gangliosides and sulfatide in peripheral neuropathies: evaluation of a new immunoassay].

Caudie C, Vial C, Petiot P, Bouhour F.

Ann Biol Clin (Paris). 2010 Nov-Dec;68(6):675-80. doi: 10.1684/abc.2010.0495. French.

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