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[CADASIL: genetics and physiopathology].
Joutel A, François A, Chabriat H, Vahedi K, Andreux F, Domenga V, Cecillon M, Maciazek J, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: andreux f. Bull Acad Natl Med. 2000;184(7):1535-42; discussion 1542-4. Bull Acad Natl Med. 2000. PMID: 11261257 Review. French.
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, Domenga V, Cécillon M, Vahedi K, Ducros A, Cave-Riant F, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: andreux f. Lancet. 2001 Dec 15;358(9298):2049-51. doi: 10.1016/S0140-6736(01)07142-2. Lancet. 2001. PMID: 11755616
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D. Yasaki E, et al. Among authors: andreux f. Neuromuscul Disord. 2004 Jan;14(1):24-32. doi: 10.1016/j.nmd.2003.07.002. Neuromuscul Disord. 2004. PMID: 14659409
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, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D. Richard P, et al. Among authors: andreux f. J Med Genet. 2003 Jun;40(6):e81. doi: 10.1136/jmg.40.6.e81. J Med Genet. 2003. PMID: 12807980 Free PMC article. No abstract available.
32 results