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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
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
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
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Bellone E, Balestra P, Ribizzi G, Schenone A, Zocchi G, Di Maria E, Ajmar F, Mandich P. Bellone E, et al. Among authors: di maria e. J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):538-40. doi: 10.1136/jnnp.2005.075242. Epub 2005 Sep 30. J Neurol Neurosurg Psychiatry. 2006. PMID: 16199442 Free PMC article.
83 results