Myocardiopathie révélatrice d'une myopathie centro-nucléaire de l'adulte = Cardiomyopathy revealing a myotubular myopathy in an adultMANOUVRIER, J; LEYS, D; DUCLOUX, G et al.Annales de cardiologie et d'angéiologie (Paris). 1986, Vol 35, Num 9, pp 557-559, issn 0003-3928Article

Mutations in dynamin 2 cause dominant centronuclear myopathyBITOUN, Marc; MAUGENRE, Svetlana; FARDEAU, Michel et al.Nature genetics. 2005, Vol 37, Num 11, pp 1207-1209, issn 1061-4036, 3 p.Article

Un cas de myopathie centro-nucléaire de l'adulte de topographie facio-scapulo-péronière = A case of facio-scapulo-peronial centronuclear myopathy in an adultSERRATRICE, G; PELLISSIER, J. F; BES, A et al.Revue neurologique (Paris). 1987, Vol 143, Num 10, pp 693-697, issn 0035-3787Article

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyCEYHAN-BIRSOY, Ozge; AGRAWAL, Pankaj B; SHUR, Natasha et al.Neurology. 2013, Vol 81, Num 14, pp 1205-1214, issn 0028-3878, 10 p.Article

Predisposition to Subdural Hemorrhage in X-Linked Myotubular MyopathyKOGA, Hiroshi; MIYAKO, Kenichi; SUGA, Naohiro et al.Pediatric neurology. 2012, Vol 46, Num 5, pp 332-334, issn 0887-8994, 3 p.Article

La myopathie myotubulaire = Myotubular myopathyGUIRAUD-CHAUMEIL, C; LAPORTE, J; MANDEL, J.-L et al.Revue neurologique (Paris). 2000, Vol 156, Num 11, pp 960-964, issn 0035-3787Conference Paper

General anesthesia for a patient with centronuclear (myotubular) myopathyGOTTSCHALK, A; HEIMAN-PATTERSON, T; DEQUEVEDO, R. II et al.Anesthesiology (Philadelphia). 1998, Vol 89, Num 4, pp 1018-1020, issn 0003-3022Article

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATIONCLAEYS, K. G; MAISONOBE, T; BÖHM, J et al.Neurology. 2010, Vol 74, Num 6, pp 519-521, issn 0028-3878, 3 p.Article

Myotubular myopathy (centronuclear myopathy)MILES, J. M; GILBERT-BARNESS, E.American journal of diseases of children (1960). 1993, Vol 147, Num 8, pp 905-906, issn 0002-922XArticle

Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathiesFIGARELLA-BRANGER, D; CALORE, E. E; BOUCRAUT, J et al.Journal of the neurological sciences. 1992, Vol 109, Num 1, pp 69-76, issn 0022-510XArticle

High stature in neonatal myotubular myopathyLEGUENNEC, J.-C; BERNIER, J.-P; LAMARCHE, J et al.Acta paediatrica scandinavica. 1988, Vol 77, Num 4, pp 610-611, issn 0001-656XArticle

Gene expression analyses in X-linked myotubular myopathyNOGUCHI, S; FUJITA, M; MURAYAMA, K et al.Neurology. 2005, Vol 65, Num 5, pp 732-737, issn 0028-3878, 6 p.Article

Centronuclear myopathy with unusual clinical pictureGRAZIA LOVASTE, M; ALDOVINI, D; FERRARI, G et al.European neurology. 1987, Vol 26, Num 3, pp 153-160, issn 0014-3022Article

Congenital centronuclear (myotubular) myopathy: a clinical pathological and genetic study in eight childrenHECKMATT, J. Z; SEWRY, C. A; HODES, D et al.Brain. 1985, Vol 108, Num 4, pp 941-964, issn 0006-8950Article

Adult centronuclear myopathies: A hospital-based studyECHANIZ-LAGUNA, A; BIANCALANA, V; BÖHM, J et al.Revue neurologique (Paris). 2013, Vol 169, Num 8-9, pp 625-631, issn 0035-3787, 7 p.Article

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATIONBITOUN, M; BEVILACQUA, J. A; EYMARD, B et al.Neurology. 2009, Vol 72, Num 1, pp 93-95, issn 0028-3878, 3 p.Article

X-linked myotubular and centronuclear myopathiesPIERSON, Christopher R; TOMCZAK, Kinga; AGRAWAL, Pankaj et al.Journal of neuropathology and experimental neurology. 2005, Vol 64, Num 7, pp 555-564, issn 0022-3069, 10 p.Article

Expression hémicorporelle d'une myopathie myotubulaire liée à l'X (XLMTM) chez deux des trois femmes conductrices d'une même famille sans cas masculin = Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected maleDROUET, A; OLLAGNON-ROMAN, E; STREICHENBERGER, N et al.Revue neurologique (Paris). 2008, Vol 164, Num 2, pp 169-176, issn 0035-3787, 8 p.Article

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogsPELE, Manuel; TIRET, Laurent; KESSLER, Jean-Louis et al.Human molecular genetics (Print). 2005, Vol 14, Num 11, pp 1417-1427, issn 0964-6906, 11 p.Article

Etude de la fonction de la myotubularine, une phosphatase dont l'activité est absente dans la myopathie myotubulaire = Functional studies of myotubularin, a protein with phosphatase activity which is absent in myotubular myopathyBlondeau, Francois; Mandel, Jean-Louis.2000, 116 p.Thesis

Centronuclear myopathy : Clinical aspects of ten Brazilian patients with childhood onsetZANOTELI, E; OLIVEIRA, A. S. B; SCHMIDT, B et al.Journal of the neurological sciences. 1998, Vol 158, Num 1, pp 76-82, issn 0022-510XArticle

Familial centronuclear myopathy: a clinical and pathological studyRESKE-NIELSEN, E; HEIN-SORENSEN, O; VORRE, P et al.Acta neurologica scandinavica. 1987, Vol 76, Num 2, pp 115-122, issn 0001-6314Article

Centronuclear myopathy in black african children. Report of 4 casesMOOSA, A; DAWOOD, A. A.Neuropediatrics. 1987, Vol 18, Num 4, pp 213-217, issn 0174-304XArticle

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeBIANCALANA, Valérie; CARON, Olivier; MANDEL, Jean-Louis et al.Human genetics. 2003, Vol 112, Num 2, pp 135-142, issn 0340-6717, 8 p.Article

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2TIRET, Laurent; BLOT, Stéphane; KESSLER, Jean-Louis et al.Human genetics. 2003, Vol 113, Num 4, pp 297-306, issn 0340-6717, 10 p.Article