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Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.
Bellone E, Mandich P, Mancardi GL, Schenone A, Uccelli A, Abbruzzese M, Sghirlanzoni A, Pareyson D, Ajmar F. Bellone E, et al. Among authors: ajmar f. J Med Genet. 1992 Jul;29(7):492-3. J Med Genet. 1992. PMID: 1640430 Free PMC article. No abstract available.
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.
Bellone E, Rodolico C, Toscano A, Di Maria E, Cassandrini D, Pizzuti A, Pigullo S, Mazzeo A, Macaione V, Girlanda P, Vita G, Ajmar F, Mandich P. Bellone E, et al. Among authors: ajmar f. Neuromuscul Disord. 2002 Mar;12(3):286-91. doi: 10.1016/s0960-8966(01)00282-6. Neuromuscul Disord. 2002. PMID: 11801401
120 results