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Journal Abstract Search

137 related items for PubMed ID: 10918262

  • 1. Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
    Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, Hartung HP.
    Muscle Nerve; 2000 Aug; 23(8):1243-9. PubMed ID: 10918262
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  • 2. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P.
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
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  • 3. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
    Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P.
    Brain; 1997 May; 120 ( Pt 5)():813-23. PubMed ID: 9183252
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  • 4. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
    Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP.
    Brain; 2000 Aug; 123 ( Pt 8)():1612-23. PubMed ID: 10908191
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  • 5. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
    Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC.
    BMC Med Genet; 2013 Sep 16; 14():92. PubMed ID: 24041033
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  • 6. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P, Mazanec R, Ctvrtecková M, Smilková D.
    Int J Mol Med; 2001 Oct 16; 8(4):461-8. PubMed ID: 11562788
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  • 9. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr 16; 41(4):463-9. PubMed ID: 9124803
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  • 10. 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 16; 126(Pt 1):134-51. PubMed ID: 12477701
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  • 11. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
    De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C.
    Brain; 1999 Feb 16; 122 ( Pt 2)():281-90. PubMed ID: 10071056
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  • 12. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.
    Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME.
    Brain; 2000 Jul 16; 123 ( Pt 7)():1516-27. PubMed ID: 10869062
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  • 15. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
    Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR.
    Muscle Nerve; 1996 Jan 16; 19(1):74-8. PubMed ID: 8538673
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  • 16. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 16; 41(3):306-13. PubMed ID: 10962051
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  • 17. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
    Yamamoto M, Sobue G, Yasuda T, Yamamoto K, Kumazawa K, Mitsuma T.
    Rinsho Shinkeigaku; 1995 Oct 16; 35(10):1085-91. PubMed ID: 8821490
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  • 18. [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
    Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Jul 16; 35(7):788-92. PubMed ID: 8777804
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  • 19. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.
    Nicholson G, Nash J.
    Neurology; 1993 Dec 16; 43(12):2558-64. PubMed ID: 8255457
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