Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
Pénisson-Besnier, I, Hackman, P, Suominen, T, Sarparanta, J, Huovinen, S, Richard-Crémieux, I, Udd, B
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2010)
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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.
Published in Annals of neurology (01.08.2000)
Published in Annals of neurology (01.08.2000)
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Journal Article
Dehydroepiandrosterone for myotonic dystrophy type 1
Pénisson-Besnier, I, Devillers, M, Porcher, R, Orlikowski, D, Doppler, V, Desnuelle, C, Ferrer, X, Bes, M-C A, Bouhour, F, Tranchant, C, Lagrange, E, Vershueren, A, Uzenot, D, Cintas, P, Solé, G, Hogrel, J-Y, Laforêt, P, Vial, C, Vila, A L, Sacconi, S, Pouget, J, Eymard, B, Chevret, S, Annane, D
Published in Neurology (05.08.2008)
Published in Neurology (05.08.2008)
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Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis
de Bray, J M, Penisson-Besnier, I, Dubas, F, Emile, J
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1997)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.1997)
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Conference Proceeding
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay
Krahn, M, Pécheux, C, Chapon, F, Béroud, C, Drouin-Garraud, V, Laforet, P, Romero, NB, Penisson-Besnier, I, Bernard, R, Urtizberea, JA, Leturcq, F, Lévy, N
Published in Clinical genetics (01.12.2007)
Published in Clinical genetics (01.12.2007)
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Journal Article
Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series
Furby, A, Béhin, A, Lefaucheur, J-P, Beauvais, K, Marcorelles, P, Mussini, J-M, Bassez, G, Créange, A, Eymard, B, Pénisson-Besnier, I
Published in Journal of neurology, neurosurgery and psychiatry (2010)
Published in Journal of neurology, neurosurgery and psychiatry (2010)
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Journal Article
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
Eymard, B, Romero, N B, Leturcq, F, Piccolo, F, Carrié, A, Jeanpierre, M, Collin, H, Deburgrave, N, Azibi, K, Chaouch, M, Merlini, L, Thémar-Noël, C, Penisson, I, Mayer, M, Tanguy, O, Campbell, K P, Kaplan, J C, Tomé, F M, Fardeau, M
Published in Neurology (01.05.1997)
Published in Neurology (01.05.1997)
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Development, activities and orientations of multidisciplinary consultations for neuromuscular diseases of the Nantes-Angers Reference center for rare diseases
Mahe, J.-Y, Kieny, P, N’guyen Te Tich, S, Perrier, J, Magot, A, Durigneux, J, Deries, X, David, A, Isidor, B, Le Fort, M, Mussini, J.-M, Perraud-Gouin, A.-S, Liorit, C, Chasserrieau, R, Chevalier, B, Lafaye-Meret, N, Penisson, I, Pereon, Y
Published in Annals of physical and rehabilitation medicine (01.10.2011)
Published in Annals of physical and rehabilitation medicine (01.10.2011)
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Journal Article
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, J.-Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F., Eymard, B., Desnuelle, C., Pouget, J.
Published in Revue neurologique (01.08.2013)
Published in Revue neurologique (01.08.2013)
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Journal Article
Ocular motor deficits in oculopharyngeal muscular dystrophy
Gautier, D., Pénisson-Besnier, I., Rivaud-Péchoux, S., Rabaute, C., Milea, D.
Published in European journal of neurology (01.04.2012)
Published in European journal of neurology (01.04.2012)
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Journal Article
Évolution, activités et orientations des consultations multidisciplinaires des maladies neuromusculaires du centre de référence des maladies rares Nantes-Angers
Mahe, J.-Y, Kieny, P, N’guyen Te Tich, S, Perrier, J, Magot, A, Durigneux, J, Deries, X, David, A, Isidor, B, Le Fort, M, Mussini, J.-M, Perraud-Gouin, A.-S, Liorit, C, Chasserrieau, R, Chevalier, M.-B, Lafaye-Meret, N, Penisson, I, Pereon, Y
Published in Annals of physical and rehabilitation medicine (01.10.2011)
Published in Annals of physical and rehabilitation medicine (01.10.2011)
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Journal Article
G.P.281
Nectoux, J, de Cid, R, Baulande, S, Leturcq, F, Urtizberea, J.A, Penisson-Besnier, I, Nadaj Pakleza, A, Roudaut, C, Criqui, A, Orhant, L, Peyroulan, D, Yaou, R. Ben, Nelson, I, Arné-Bes, M.C, Nitschke, P, Claustres, M, Bonne, G, Lévy, N, Chelly, J, Richard, I, Cossée, M
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
P.5.16 Predominant right ventricular involvement in patients with laminopathies
Ben Yaou, R, Wahbi, K, Meune, C, Fressart, V, Feldman, L, Behin, A, Pénisson-Besnier, I, Urtizberea, J.A, Eymard, B, Richard, P, Bonne, G, Duboc, D
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme® )
Laforêt, P, Payan, C, Laloui, K, Hogrel, J.-Y, Wary, C, Carlier, R, Pellegrini, N, Bedat-Millet, A.-L, Durieu, I, Furby, A, Penisson-Besnier, I, Praline, J, Orlikowski, D, Guffon-Fouilhoux, N, Levy, A, Eymard, B
Published in Clinical therapeutics (01.06.2011)
Published in Clinical therapeutics (01.06.2011)
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Journal Article
Nemaline bodies as unique pathological feature in the course of treated dermatomyositis
Letournel, F, Le Clec'h, C, Croué, A, Marcorelles, P, Lavigne, C, Pénisson-Besnier, I
Published in Clinical neuropathology (01.11.2010)
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Published in Clinical neuropathology (01.11.2010)
Journal Article
Current French Pompe Prevalence Study (French PoPS)
Sacconi, S, Piraud, M, Echaniz-Laguna, A, Tranchant, C, Boutte, C, Nadaj, A, Penisson-Besnier, I, Bouhour, F, Gervais, H, Petiot, P, Manel, V, Gallard, J, Salort-Campana, E, Solé, G, Pages, M, Echenne, B, Fourquet, I, Lacour, A, Feasson, L, Magot, A, Chabrol, B, Chapon, F, Clavelou, P, Martinez, E, Baëz, E, Laforêt, P, Pouget, J, Desnuelle, C
Published in Clinical therapeutics (01.06.2011)
Published in Clinical therapeutics (01.06.2011)
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