المؤلفون: Pons, N., Fernández-Eulate, G., Pegat, A., Théaudin, M., Guieu, R., Ripellino, P., Devedjian, M., Mace, P., Masingue, M., Léonard-Louis, S., Petiot, P., Roche, P., Bernard, E., Bouhour, F., Good, J.M., Verschueren, A., Grapperon, A.M., Salort, E., Grosset, A., Chanson, J.B., Nadaj-Pakleza, A., Bédat-Millet, A.L., Choumert, A., Barnier, A., Hamdi, G., Lesca, G., Prieur, F., Bruneel, A., Latour, P., Stojkovic, T., Attarian, S., Bonello-Palot, N.

المصدر: European journal of neurology, vol. 30, no. 7, pp. 2001-2011

مصطلحات موضوعية: Humans, Switzerland, Mutation, Charcot-Marie-Tooth Disease/genetics, Genotype, Muscular Atrophy, SORD, Charcot-Marie-Tooth, neuropathy, peripheral neuropathy

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/36943151; info:eu-repo/semantics/altIdentifier/eissn/1468-1331; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EBAC3490A2103; https://serval.unil.ch/notice/serval:BIB_EBAC3490A210; https://serval.unil.ch/resource/serval:BIB_EBAC3490A210.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_EBAC3490A210
https://doi.org/10.1111/ene.15793
https://serval.unil.ch/resource/serval:BIB_EBAC3490A210.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EBAC3490A2103

المؤلفون: Fernández-Eulate, G., Querin, G., Moore, U., Behin, A., Masingue, M., Bassez, G., Leonard-Louis, S., Laforêt, P., Maisonobe, T., Merle, P.E., Spinazzi, M., Solé, G., Kuntzer, T., Bedat-Millet, A.L., Salort-Campana, E., Attarian, S., Péréon, Y., Feasson, L., Graveleau, J., Nadaj-Pakleza, A., Leturcq, F., Gorokhova, S., Krahn, M., Eymard, B., Straub, V., Evangelista, T., Stojkovic, T.

المساهمون: Jain COS Consortium

المصدر: European journal of neurology, vol. 28, no. 6, pp. 2092-2102

مصطلحات موضوعية: Adult, Female, Humans, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Retrospective Studies, LGMDR2, dysferlin, late onset, muscle pathology, myopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33715265; info:eu-repo/semantics/altIdentifier/eissn/1468-1331; https://serval.unil.ch/notice/serval:BIB_83EEA2DA8BDF

الاتاحة: https://serval.unil.ch/notice/serval:BIB_83EEA2DA8BDF
https://doi.org/10.1111/ene.14821

المؤلفون: Béreau, M., Anheim, M., Echaniz-Laguna, A., Magot, A., Verny, C., Goideau-Sevrain, M., Barth, M., Amati-Bonneau, P., Allouche, S., Ayrignac, X., Bédat-Millet, A.L., Guyant-Maréchal, L., Kuntzer, T., Ochsner, F., Petiot, P., Vial, C., Omer, S., Sole, G., Taieb, G., Carvalho, N., Tio, G., Kremer, S., Acquaviva-Bourdain, C., de Camaret, B.M., Tranchant, C.

المصدر: Journal of the neurological sciences, vol. 368, pp. 70-76

مصطلحات موضوعية: Adult, Age of Onset, Aged, 80 and over, Brain/diagnostic imaging, DNA-Directed DNA Polymerase/genetics, Europe, Female, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mitochondrial Diseases/classification, Mitochondrial Diseases/diagnosis, Mitochondrial Diseases/genetics, Mitochondrial Diseases/physiopathology, Muscles/pathology, Mutation, Missense, Phenotype, Retrospective Studies, Tertiary Care Centers, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/27538604; info:eu-repo/semantics/altIdentifier/eissn/1878-5883; https://serval.unil.ch/notice/serval:BIB_E4292471AAA5

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E4292471AAA5
https://doi.org/10.1016/j.jns.2016.06.062

المؤلفون: Eymard, B., Payan, C., Laloui, K., Hogrel, J.Y., Wary, C., Carlier, R., Pellegrini, N., Bedat-Millet, A.L., Durieu, I., Furby, A., Pénisson-Besnier, I., Praline, J., Orlikowski, D., Guffon-Fouilhoux, N., Levy, A., Laforêt, P.

المصدر: Neuromuscular Disorders ; volume 20, issue 9-10, page 673-674 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2010.07.246
https://api.elsevier.com/content/article/PII:S0960896610005171?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896610005171?httpAccept=text/plain