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Journal Abstract Search

199 related items for PubMed ID: 12868504

  • 21. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
    Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.
    Nat Genet; 2002 Jan; 30(1):21-2. PubMed ID: 11743579
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  • 22. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.
    Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
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  • 28. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
    Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
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  • 32. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
    Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L.
    J Peripher Nerv Syst; 2012 Sep; 17(3):351-5. PubMed ID: 22971097
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  • 33. Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
    Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K.
    J Hum Genet; 2013 May; 58(5):273-8. PubMed ID: 23466821
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  • 34. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
    Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.
    Neurogenetics; 2018 May; 19(2):67-76. PubMed ID: 29396836
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  • 36. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
    Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.
    Neurology; 2011 Aug 09; 77(6):540-8. PubMed ID: 21753178
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