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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Among authors: di maria e. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111
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: di maria e. Neuromuscul Disord. 2002 Mar;12(3):286-91. doi: 10.1016/s0960-8966(01)00282-6. Neuromuscul Disord. 2002. PMID: 11801401
Does parkin play a role in the peripheral nervous system? A family report.
Abbruzzese G, Pigullo S, Schenone A, Bellone E, Marchese R, Di Maria E, Benedetti L, Ciotti P, Nobbio L, Bonifati V, Ajmar F, Mandich P. Abbruzzese G, et al. Among authors: di maria e. Mov Disord. 2004 Aug;19(8):978-81. doi: 10.1002/mds.20113. Mov Disord. 2004. PMID: 15300670
Congenital hypomyelination due to myelin protein zero Q215X mutation.
Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A. Mandich P, et al. Among authors: di maria e. Ann Neurol. 1999 May;45(5):676-8. doi: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k. Ann Neurol. 1999. PMID: 10319895
83 results