| 1 | CMT4A, GDAP1
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| Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
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| Huber N, Guimaraes S, Schrader M, Suter U, Niemann A.
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| EMBO Rep 14(6):545-52. doi: 10.1038/embor.2013.56. Epub 2013 Apr 30.
2013
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| 2 | CMT4A, GDAP1
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| Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
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| Noack R, Frede S, Albrecht P, Henke N, Pfeiffer A, Knoll K, Dehmel T, Meyer Zu Hörste G, Stettner M, Kieseier BC, Summer H, Golz S, Kochanski A, Wiedau-Pazos M, Arnold S, Lewerenz J, Methner A.
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| Hum Mol Genet 21(1):150-62. doi: 10.1093/hmg/ddr450. Epub 2011 Sep 28.
2012
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| 3 | CMT2K, CMT4A, GDAP1
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| Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
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| 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.
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| Neurology 77(6):540-8. Epub 2011 Jul 13. 2011
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| 4 | CMT4A, GDAP1
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| The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
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| Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC.
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| PLoS One 6(12):e29393. doi: 10.1371/journal.pone.0029393. Epub 2011 Dec 19. Erratum in: PLoS One. 2012;7(1). doi:10.1371/annotation/23743 2011
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| 5 | CMT4A, GDAP1
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| Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
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| Estela A, Pla-Martín D, Sánchez-Piris M, Sesaki H, Palau F.
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| J Biol Chem 286(42):36777-86. doi: 10.1074/jbc.M111.260042. Epub 2011 Sep 2.
2011
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| 6 | CMT2K, CMT4A, GDAP1
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| GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
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| Niemann A, Wagner KM, Ruegg M, Suter U.
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| Neurobiol Dis 36(3):509-20. Epub 2009 Sep 25.PMID: 19782751 2009
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| 7 | CMT4A, GDAP1
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| Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
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| Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T, Pareyson D, Taroni F.
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| Neuromuscul Disord 19(7):476-80. Epub 2009 Jun 4.PMID: 19500985 2009
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| 8 | CMT4A, GDAP1
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| Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
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| Pedrola L, Espert A, Valdés-Sánchez T, Sánchez-Piris M, Sirkowski EE, Scherer SS, Fariñas I, Palau F.
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| J Cell Mol Med 12(2):679-89. Epub 2007 Nov 16.PMID: 18021315 2008
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| 9 | CMT4A, GDAP1
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| A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
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| Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.
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| Can J Neurol Sci 34(4):421-6.PMID: 18062449 2007
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| 10 | GDAP1, CMT4A
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| A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
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| Kabzi–ska D, Kocha–ski A, Drac H, Rowi–ska-Marci–ska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.
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| J Neurol Sci 241(1-2):7-11. Epub 2005 Dec 15. 2006
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| 11 | GDAP1, CMT4A, CMT2K
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| GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
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| Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C.
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| J Neurol 253(9):1234-5. Epub 2006 Apr 10. No abstract available. 2006
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| 12 | CMT4A, GDAP1
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| Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
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| Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski JR, Vilchez JJ, Espinos C, Palau F.
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| J Med Genet 42(4):358-65. No abstract available. 2005
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| 13 | GDAP1, CMT4A
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| GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
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| Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F.
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| Hum Mol Genet 14(8):1087-94. Epub 2005 Mar 16. 2005
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| 14 | CMT4A, GDAP1
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| Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
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| Kabzinska D, Kochanski A, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I.
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| Neuropediatrics 36(3):206-9. 2005
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| 15 | GDAP1, CMT4A
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| Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
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| Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
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| Neuromuscul Disord 14(4):261-4. 2004
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| 16 | GDAP1, CMT4A
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| A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
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| Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E.
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| J Neurol Neurosurg Psychiatry 75(10):1495-8. 2004
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| 17 | CMT2K, CMT4A, GDAP1
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| Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
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| Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ.
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| Brain 126(Pt 9):2023-33. Epub 2003 Jun 23. 2003
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| 18 | GDAP1, CMT4A
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| Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
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| Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.
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| Neuromuscul Disord 13(9):720-8. 2003
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| 19 | CMT4A, GDAP1
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| The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
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| Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F.
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| Nat Genet 30(1):22-5. 2002
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| 20 | CMT4A, GDAP1
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| Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
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| 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.
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| Nat Genet 30(1):21-2. 2002
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| 21 | CMT4A
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| Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths : clinical, electrophysiologic, and genetic aspects of a large family.
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| Quattrone A, et al.
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| Neurology 46 : 1318-1324. 1996
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| 22 | CMT4A, PMP2
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| Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
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| Ben Othmane K, et al.
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| Genomics 28 : 286-290. 1995
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| 23 | CMT4A
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| Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
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| Ben Othmane K, et al.
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| Hum Mol Genet 2 : 1625-1628. 1993
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