1 - 25 of 61 results for author:"Fardeau M." in Literature citations
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| Methanomassiliicoccus luminyensis gen. nov., sp. nov., a methanogenic archaeon isolated from human faeces. Dridi B., Fardeau M.L., Ollivier B., Raoult D., Drancourt M. Int. J. Syst. Evol. Microbiol. 62:1902-1907(2012) · UniProtKB (1) |
| Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Bevilacqua J.A., Monnier N., Bitoun M., Eymard B., Ferreiro A., Monges S., Lubieniecki F., Taratuto A.L., Laquerriere A., Claeys K.G. et al. Neuropathol. Appl. Neurobiol. 37:271-284(2011) · Mapped (6) |
| No title Ramachandran N., Munteanu I., Wang P., Aubourg P., Rilstone J.J., Israelian N., Naranian T., Paroutis P., Guo R., Ren Z.-P. et al. Cell 142:984-984(2010) · UniProtKB (1) |
| Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Ben Ammar A., Petit F., Alexandri N., Gaudon K., Bauche S., Rouche A., Gras D., Fournier E., Koenig J., Stojkovic T. et al. |
| Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Huze C., Bauche S., Richard P., Chevessier F., Goillot E., Gaudon K., Ben Ammar A., Chaboud A., Grosjean I., Lecuyer H.A. et al. Am. J. Hum. Genet. 85:155-167(2009) · UniProtKB (1) · Mapped (3) |
| VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Ramachandran N., Munteanu I., Wang P., Aubourg P., Rilstone J.J., Israelian N., Naranian T., Paroutis P., Guo R., Ren Z.-P. et al. |
| Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Stojkovic T., Hammouda e.l. H., Richard P., Lopez de Munain A., Ruiz-Martinez J., Camano P., Gonzalez P.C., Laforet P., Penisson-Besnier I., Ferrer X. et al. Neuromuscul. Disord. 19:316-323(2009) · Mapped (6) |
| Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Claeys K.G., van der Ven P.F., Behin A., Stojkovic T., Eymard B., Dubourg O., Laforet P., Faulkner G., Richard P., Vicart P. et al. Acta Neuropathol. 117:293-307(2009) · Mapped (6) |
| A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Bitoun M., Bevilacqua J.A., Eymard B., Prudhon B., Fardeau M., Guicheney P., Romero N.B. |
| "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Bevilacqua J.A., Bitoun M., Biancalana V., Oldfors A., Stoltenburg G., Claeys K.G., Lacene E., Brochier G., Manere L., Laforet P. et al. Acta Neuropathol. 117:283-291(2009) · Mapped (5) |
| COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., Marro B., Desmettre T., Cohen S.Y., Roullet E. et al. N. Engl. J. Med. 357:2687-2695(2007) · UniProtKB (1) · Mapped (4) |
| Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Bitoun M., Bevilacqua J.A., Prudhon B., Maugenre S., Taratuto A.L., Monges S., Lubieniecki F., Cances C., Uro-Coste E., Mayer M. et al. |
| New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Yanagisawa A., Bouchet C., Van den Bergh P.Y., Cuisset J.M., Viollet L., Leturcq F., Romero N.B., Quijano-Roy S., Fardeau M., Seta N. et al. |
| C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Carmignac V., Salih M.A.M., Quijano-Roy S., Marchand S., Al Rayess M.M., Mukhtar M.M., Urtizberea J.A., Labeit S., Guicheney P., Leturcq F. et al. |
| Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Olive M., Armstrong J., Miralles F., Pou A., Fardeau M., Gonzalez L., Martinez F., Fischer D., Martinez Matos J.A., Shatunov A. et al. Neuromuscul. Disord. 17:443-450(2007) · Mapped (13) |
| Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Baer H., Goudeau B., Waelde S., Casteras-Simon M., Muecke N., Shatunov A., Goldberg Y.P., Clarke C., Holton J.L., Eymard B. et al. Hum. Mutat. 28:374-386(2007) · UniProtKB (1) |
| Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene. Fischer D., Herasse M., Ferreiro A., Barragan-Campos H.M., Chiras J., Viollet L., Maugenre S., Leroy J.P., Monnier N., Lunardi J. et al. Neurology 67:2217-2220(2006) · Mapped (6) |
| Desulfomicrobium thermophilum sp. nov., a novel thermophilic sulphate-reducing bacterium isolated from a terrestrial hot spring in Colombia. Thevenieau F., Fardeau M.L., Ollivier B., Joulian C., Baena S. Extremophiles 11:295-303(2007) · UniProtKB (2) |
| Myotilinopathy in a family with late onset myopathy. Penisson-Besnier I., Talvinen K., Dumez C., Vihola A., Dubas F., Fardeau M., Hackman P., Carpen O., Udd B. Neuromuscul. Disord. 16:427-431(2006) · Mapped (3) |
| Mutations in dynamin 2 cause dominant centronuclear myopathy. Bitoun M., Maugenre S., Jeannet P.-Y., Lacene E., Ferrer X., Laforet P., Martin J.-J., Laporte J., Lochmueller H., Beggs A.H. et al. Nat. Genet. 37:1207-1209(2005) · UniProtKB (1) · Mapped (10) |
| Protein 4.1R expression in normal and dystrophic skeletal muscle. Delhommeau F., Dalla Venezia N., Moriniere M., Collin H., Maillet P., Guerfali I., Leclerc P., Fardeau M., Delaunay J., Baklouti F. C. R. Biol. 328:43-56(2005) · Mapped (8) |
| MUSK, a new target for mutations causing congenital myasthenic syndrome. Chevessier F., Faraut B., Ravel-Chapuis A., Richard P., Gaudon K., Bauche S., Prioleau C., Herbst R., Goillot E., Ioos C. et al. Hum. Mol. Genet. 13:3229-3240(2004) · UniProtKB (1) · Mapped (12) |
| Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ferreiro A., Ceuterick-de Groote C., Marks J.J., Goemans N., Schreiber G., Hanefeld F., Fardeau M., Martin J.-J., Goebel H.H., Richard P. et al. Ann. Neurol. 55:676-686(2004) · UniProtKB (1) |
| Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Romero N.B., Monnier N., Viollet L., Cortey A., Chevallay M., Leroy J.P., Lunardi J., Fardeau M. |
| 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., Bauche S., Barois A., Ioos C., Mayer M., Routon M.C. et al. J. Med. Genet. 40:e81-e81(2003) · Mapped (1) |