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Two families with novel PMP22 point mutations: genotype-phenotype correlation.
Pisciotta C, Manganelli F, Iodice R, Bellone E, Geroldi A, Volpi N, Mandich P, Santoro L. Pisciotta C, et al. Among authors: mandich p. J Peripher Nerv Syst. 2009 Sep;14(3):208-12. doi: 10.1111/j.1529-8027.2009.00235.x. J Peripher Nerv Syst. 2009. PMID: 19909487 No abstract available.
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: mandich p. J Med Genet. 1992 Jul;29(7):492-3. J Med Genet. 1992. PMID: 1640430 Free PMC article. No abstract available.
Homozygous hypertrophic hereditary motor and sensory neuropathies.
Sghirlanzoni A, Pareyson D, Marazzi R, Cavaletti G, Bellone E, Mandich P, Balestrini MR, Riva D. Sghirlanzoni A, et al. Among authors: mandich p. Ital J Neurol Sci. 1994 Feb;15(1):5-14. doi: 10.1007/BF02343492. Ital J Neurol Sci. 1994. PMID: 8206746
De novo duplication in Charcot-Marie-Tooth type 1A.
Mandich P, Bellone E, Schenone A, Mancardi G, Abbruzzese M, Ajmar F. Mandich P, et al. Am J Hum Genet. 1996 Sep;59(3):739-40. Am J Hum Genet. 1996. PMID: 8751877 Free PMC article. No abstract available.
198 results