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Journal Abstract Search

315 related items for PubMed ID: 10071056

  • 1.
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  • 2. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
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  • 3. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
    Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM.
    Brain Pathol; 2000 Apr; 10(2):235-48. PubMed ID: 10764043
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  • 4. Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
    Kurihara S, Adachi Y, Imai C, Araki H, Hattori N, Numakura C, Lin Y, Hayasaka K, Sobue G, Nakashima K.
    J Neurol Neurosurg Psychiatry; 2004 Oct; 75(10):1492-4. PubMed ID: 15377707
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  • 6. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
    Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G, Study Group for Hereditary Neuropathy in Japan.
    Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701
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  • 7. Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
    Bienfait HM, Faber CG, Baas F, Gabreëls-Festen AA, Koelman JH, Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M.
    J Neurol Neurosurg Psychiatry; 2006 Apr; 77(4):534-7. PubMed ID: 16543539
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  • 8. [Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
    Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G.
    Rinsho Shinkeigaku; 2000 Feb; 40(2):149-54. PubMed ID: 10835936
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  • 9. Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
    Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.
    Neurogenetics; 2003 Aug; 4(4):191-7. PubMed ID: 12845552
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  • 11. The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
    Fabrizi GM, Tamburin S, Cavallaro T, Cabrini I, Ferrarini M, Taioli F, Magrinelli F, Zanette G.
    Clin Neurophysiol; 2018 Jan; 129(1):21-32. PubMed ID: 29136549
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  • 12. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
    Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A.
    J Neurol Neurosurg Psychiatry; 1999 Jun; 66(6):779-82. PubMed ID: 10329755
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  • 13. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
    Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D.
    J Neurol Neurosurg Psychiatry; 2007 Nov; 78(11):1263-6. PubMed ID: 17940173
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  • 14. Axonal and demyelinating forms of the MPZ Thr124Met mutation.
    Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K.
    Acta Neurol Scand; 2003 Sep; 108(3):157-60. PubMed ID: 12911457
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  • 16. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
    Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA.
    Muscle Nerve; 2010 Aug; 42(2):184-8. PubMed ID: 20544920
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  • 17. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
    Santoro L, Manganelli F, Di Maria E, Bordo D, Cassandrini D, Ajmar F, Mandich P, Bellone E.
    J Neurol Neurosurg Psychiatry; 2004 Feb; 75(2):262-5. PubMed ID: 14742601
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  • 18. Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.
    Drac H, Kabzińska D, Moszyńska I, Strugalska-Cynowska H, Hausmanowa-Petrusewicz I, Kochański A.
    J Appl Genet; 2011 May; 52(2):177-83. PubMed ID: 21107784
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  • 19. A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
    Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Carolina O, Heuss D, Del Valle G, Rautenstrauss B.
    Rev Biol Trop; 2014 Dec; 62(4):1285-93. PubMed ID: 25720167
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