| 1 | CMT3A, MPZ
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| Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
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| Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).
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| Brain 138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.
2015
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| 2 | CMT2J, MPZ
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| Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
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| Tokuda N, Noto Y, Kitani-Morii F, Hamano A, Kasai T, Shiga K, Mizuta I, Niwa F, Nakagawa M, Mizuno T.
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| Intern Med 54(15):1919-22. doi: 10.2169/internalmedicine.54.4259. Epub 2015 Aug 1.
2015
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| 3 | MPZ, PLP1
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| Proteolipid protein cannot replace P0 protein as the major structural protein of peripheral nervous system myelin.
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| Yin X, Kiryu-Seo S, Kidd GJ, Feltri ML, Wrabetz L, Trapp BD.
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| Glia 63(1):66-77. doi: 10.1002/glia.22733. Epub 2014 Jul 28. 2015
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| 4 | CD401, MPZ
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| Costimulatory molecule CD40 is essential for myelin protein 0 peptide 106-125-induced experimental autoimmune neuritis in mice.
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| Brunn A, Utermöhlen O, Mihelcic M, Saupe L, Fiocco Z, Schmidt A, Carstov M, Montesinos-Rongen M, Deckert M.
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| J Neuropathol Exp Neurol 73(5):454-66. doi: 10.1097/NEN.0000000000000069.
2014
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| 5 | CMT1B, MPZ
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| Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.
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| Nishiyama S, Sugeno N, Tateyama M, Aoki M.
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| Clin Neurol Neurosurg 115(2):208-9. doi: 10.1016/j.clineuro.2012.04.016. Epub 2012 May 24. No abstract available.
2013
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| 6 | MPZ
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| L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough.
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| Yamaguchi Y, Hayashi A, Campagnoni CW, Kimura A, Inuzuka T, Baba H.
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| J Biol Chem 287(21):17765-76. doi: 10.1074/jbc.M111.314468. Epub 2012 Mar 28.
2012
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| 7 | MPZ
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| Isolation and function of mouse tissue resident vascular precursors marked by myelin protein zero.
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| Kubota Y, Takubo K, Hirashima M, Nagoshi N, Kishi K, Okuno Y, Nakamura-Ishizu A, Sano K, Murakami M, Ema M, Omatsu Y, Takahashi S, Nagasawa T, Shibuya M, Okano H, Suda T.
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| J Exp Med 208(5):949-60. doi: 10.1084/jem.20102187. Epub 2011 May 2.
2011
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| 8 | CMT1B, MPZ
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| A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
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| Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M, Simi P, Siciliano G.
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| Neuromuscul Disord 20(12):817-9. Epub 2010 Sep 17.
2010
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| 9 | MPZ
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| A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
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| Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program.
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| PLoS One 5(12):e14346. doi: 10.1371/journal.pone.0014346.
2010
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| 10 | CMT1B, CMT2I, CMT2J, CMT3A, MPZ
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| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
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| Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E.
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| Eur J Hum Genet 17(9):1129-34. Epub 2009 Mar 18.PMID: 19293842 2009
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| 11 | MPZ
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| MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.
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| Lee YC, Yu CT, Lin KP, Chang MH, Hsu SL, Liu YF, Lu YC, Soong BW.
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| Neurology 70(4):273-7. 2008
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| 12 | CMT1B, MPZ
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| Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
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| Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A.
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| Hum Mol Genet 17(13):1877-89. Epub 2008 Mar 12.
2008
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| 13 | CMT1B, MPZ
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| A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
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| Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y.
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| Muscle Nerve 38(2):1055-9.
2008
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| 14 | CMT2J, MPZ
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| Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
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| Kabzinska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochanski A.
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| Am J Med Genet A 143(18):2196-9. No abstract available. 2007
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| 15 | CMT1B, MPZ
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| New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
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| Floroskufi P, Panas M, Karadima G, Vassilopoulos D.
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| Muscle Nerve 35(5):667-9.
2007
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| 16 | MPZ
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| Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking.
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| Konde V, Eichberg J.
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| J Neurosci Res 83(6):957-64. 2006
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| 17 | CMT1B, MPZ
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| Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
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| Fabrizi GM, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N.
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| Neuromuscul Disord 16(3):183-7. Epub 2006 Feb 20. 2006
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| 18 | MPZ
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| Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
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| Burns TM, Phillips LH 2nd, Dimberg EL, Vaught BK, Klein CJ.
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| Neuromuscul Disord 16(5):308-10. Epub 2006 Apr 17. 2006
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| 19 | CMT2I, MPZ
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| Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
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| Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.
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| Neurology 61(10):1435-7. 2003
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| 20 | MPZ, CMT1B
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| Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
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| Matsuyama W, Nakagawa M, Takashima H, Osame M.
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| Acta Neuropathol (Berl) 103(5):501-8. Epub 2002 Jan 31. 2002
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| 21 | CMT1A, CMT2I, HNPP, MPZ
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| Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
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| Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.
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| Ann Neurol 51(2):190-201. 2002
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| 22 | CMT1B, MPZ
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| Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible hotspot on Thr124Met.
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| Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schroder JM.
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| Brain Pathol 10(2):235-48. 2000
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| 23 | CMT2J, MPZ
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| An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
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| Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G.
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| J Neurol Neurosurg Psychiatry 69(6):806-11. 2000
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| 24 | PMP22, MPZ
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| Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin.
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| D'Urso D, et al.
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| J Neurosci 19(9):3396-403. 1999
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| 25 | MPZ, CMT1B
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| A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
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| Nakagawa M, et al.
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| Neurology 52(6):1271-5. 1999
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| 26 | CMT3A, MPZ
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| Congenital hypomyelination due to myelin protein zero Q215X mutation.
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| Mandich P, et al.
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| Ann Neurol 45(5):676-8. 1999
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| 27 | CMT1B, MPZ
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| Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
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| Takashima H, et al.
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| Neuromuscul Disord 9(4):232-8 1999
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| 28 | CMTDID, CMT1B, CMT3A, MPZ
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| Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
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| Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.
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| J Neurol Neurosurg Psychiatry 67(2):174-9. 1999
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| 29 | CMT1B, MPZ
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| Novel mutation of the myelin PO gene in a CMT1B family.
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| Sorour E, et al.
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| Hum Mutat 9 : 74-77. 1997
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| 30 | CMT1B, MPZ
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| Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B : a 20-year study.
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| Bird TD, et al.
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| Ann Neurol 41 : 463-469. 1997
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| 31 | CMT1B, MPZ
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| De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
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| Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O.
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| J Neurol Sci 149(1):103-9. 1997
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| 32 | CMT1A, MPZ
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| Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
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| Warner LE, Shohat M, Shorer Z, Lupski JR.
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| Hum Mutat 10(1):21-4. 1997
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| 33 | CMT1B, MPZ
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| Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
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| Ikegami T, Ikeda H, Mitsui T, Hayasaka K, Ishii S.
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| Am J Med Genet 71(2):246-8. No abstract available. 1997
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| 34 | CMT1B, MPZ
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| Identification of a 4 bp deletion (1560del4) in Po gene in a family withsevere Charcot-Marie-Tooth disease.
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| Bellone E, et al.
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| Hum Mutat 7 : 377. 1996
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| 35 | CMT1B, MPZ
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| Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
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| Roa BB, et al.
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| Hum Mutat 7 : 36-45. 1996
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| 36 | CMT1B, MPZ
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| A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
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| Ikegami T, et al.
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| Biochem Biophys Res Commun 222 : 107-110. 1996
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| 37 | CMT1B, CMT3A, HNPP, MPZ
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| Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
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| Warner LE, et al.
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| Neuron 17 : 451-460. 1996
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| 38 | CMT1B, MPZ
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| Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.
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| Meijerink PHS, et al.
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| Ann Neurol 40 : 672-675. 1996
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| 39 | CMT1B, MPZ
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| Settling the myelin protein zero question in CMT1B.
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| Warner LE, et al.
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| Nat Genet 11 : 119-120. 1995
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| 40 | CMT1B, MPZ
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| Charcot-Marie-Tooth type 1B neuropathy : third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
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| Blanquet-Grossard F, et al.
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| Clin Genet 48 : 281-283. 1995
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| 41 | CMT1B, MPZ
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| Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
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| Latour P, et al.
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| Hum Mutat 6 : 50-54. 1995
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| 42 | CMT1B, MPZ
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| Identification of a De novo insertional mutation in Po in a patient with a DŽjŽrine-Sottas syndrome (DSS) phenotype.
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| Rautenstrauss B, et al.
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| Hum Mol Genet 3 : 1701-1702. 1994
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| 43 | BWS, ST5, MPZ
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| Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.
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| Sait SNJ, et al.
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| Genes Chromosomes Cancer 11 : 97-105. 1994
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| 44 | MPZ
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| Mutational analysis of the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth neuropathy type 1B. (abstr)
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| Roa BB, et al.
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| Am J Hum Genet 55 : A239. 1994
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| 45 | MPZ
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| DNA report. Short report on DNA markers at candidate loci. A Rsal RFLP at the human myelin protein zero (MPZ) locus.
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| Latour P, et al.
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| Clin Genet 46 : 327-328. 1994
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| 46 | MPZ
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| Partial structure and mapping of the human myelin P2 protein gene.
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| Narayanan V, et al.
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| J Neurochem 63 : 2010-2013. 1994
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| 47 | MPZ, CMT1B
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| Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients.
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| Su Y, et al.
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| Proc Natl Acad Sci U S A 90 : 10856-10860. 1993
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| 48 | CMT1B, MPZ
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| New mutation of the myelin Po gene in a pedigree of Charcot-Marie-Tooth neuropathy type-1.
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| Himoro M, et al.
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| Biochem Mol Biol Int 31 : 169-174. 1993
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| 49 | MPZ
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| The major peripheral myelin protein zero gene : structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.
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| Pham-Dinh D, et al.
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| Hum Mol Genet 2 : 2051-2054. 1993
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| 50 | CMT1B, MPZ
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| Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1B.
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| Hayasaka K, et al.
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| Hum Mol Genet 2 : 1369-1372. 1993
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| 51 | MPZ, CMT1B
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| Deletion of the serine 34 codon from the major peripheral myelin protein Po gene in Charcot-Marie-Tooth disease type 1B.
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| Kulkens T, et al.
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| Nat Genet 5 : 35-39. 1993
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| 52 | MPZ, CMT1B
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| Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin Po gene.
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| Hayasaka K, et al.
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| Nat Genet 5 : 31-34. 1993
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| 53 | MPZ
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| Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ).
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| Hayasaka K, et al.
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| Genomics 17 : 755-758. 1993
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| 54 | MPZ, CMT1B
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| Mutation of the myelin Po gene in Charcot-Marie-Tooth neuropathy type 1.
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| Hayasaka K, et al.
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| Biochem Biophys Res Commun 194 : 1317-1322. 1993
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| 55 | MPZ, CMT1B
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| De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
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| Hayasaka K, et al.
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| Nat Genet 5 : 266-268. 1993
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| 56 | MOAP1, MPZ
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| Construction of a physical map on mouse and human chromosome 1 : comparison of 13 Mb of mouse and 11 Mb of human DNA.
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| Oakey RJ, et al.
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| Hum Mol Genet 1 : 613-620. 1992
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| 57 | MPZ
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| Isolation and analysis of the gene encoding peripheral myelin protein zero.
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| Lemke G, et al.
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| Neuron 1 : 73-83. 1988
|