| 1 | Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and agg resome-autophagy pathways. (21896645) | Lee S.M.... Li L. | 2011 | LITAF |
| 2 | Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis. (19950375) | Benson B.... Blitzer A. | 2010 | NEFL, MPZ, PRX |
| 3 | Mistargeting of SH3TC2 away from the recycling endoso me causes Charcot-Marie-Tooth disease type 4C. (20028792) | Roberts R.C.... Luzio J.P. | 2010 | RAB11A, SH3TC2 |
| 4 | Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. (20865121) | Guernsey D.L.... Samuels M.E. | 2010 | LRSAM1 |
| 5 | Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. (19427854) | Cartoni R.... Martinou J.C. | 2009 | MFN2 |
| 6 | Ultrastructural lesions of axonal mitochondria in pa tients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations (19718987) | Funalot B.... Vallat J.M. | 2009 | LMNA, MTMR2, MFN2 |
| 7 | Charcota89Mariea89Tooth disease type 2J with MPZ Thr124Me t mutation: clinico-electrophysiological and MRI study of a family. (19629567) | Gallardo E.... Berciano J. | 2009 | MPZL1 |
| 8 | Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. (18560793) | Gallardo E.... Berciano J. | 2008 | DNM2 |
| 9 | Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. (18698610) | Al-Thihli K.... der Kaloustian V.M. | 2008 | PMP22 |
| 10 | Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. (17595294) | Nangle L.A.... Schimmel P. | 2007 | GARS |
| 11 | Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. (17215403) | Baloh R.H.... Milbrandt J. | 2007 | MFN2 |
| 12 | Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437) | Massa R.... Modesti A. | 2006 | ERBB2, ERBB3 |
| 13 | Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. (16488608) | Fabrizi G.M.... Rizzuto N. | 2006 | MPZ |
| 14 | Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. (16481890) | Szigeti K.... Lupski J.R. | 2006 | PMP22 |
| 15 | Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. (16770524) | Otagiri T.... Hayasaka K. | 2006 | PRX |
| 16 | Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. (16750429) | Kirfel J.... Buettner R. | 2006 | SBF2 |
| 17 | Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549. (17297705) | Jakubiczka S.... Wieacker P. | 2006 | MPZ |
| 18 | SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. (15776429) | Saifi G.M.... Lupski J.R. | 2005 | NEDD4, HGS, TSG101 |
| 19 | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot- Marie-Tooth disease family. (15947997) | Chung K.W.... Choi B.O. | 2005 | EGR2, GJB1 |
| 20 | Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. (15786462) | Meggouh F.... Baas F. | 2005 | PMP22, LITAF |
| 21 | Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. (16087758) | Tang B.... Jiang H. | 2005 | HSPB1 |
| 22 | Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. (15944907) | Kabzinska D.... Hausmanowa-Petrusewicz I. | 2005 | GDAP1 |
| 23 | De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. (15625576) | KochaA8ski A.... KabziA8ska D. | 2004 | PMP22 |
| 24 | Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. (14607793) | Tazir M.... Grid D. | 2004 | LMNA |
| 25 | Transient, recurrent, white matter lesions in X-linked Charcot-Marie- Tooth disease with novel connexin 32 mutation. (12707076) | Hanemann C.O.... Sperfeld A.-D. | 2003 | GJB1 |
| 26 | Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. (12542510) | Takashima H.... Osame M. | 2003 | GJB1, DLX4 |
| 27 | Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease (12673592) | Luo W.... Xia J. | 2003 | NEFL |
| 28 | Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. (12477167) | Yoshihara T.... Sobue G. | 2002 | NEFL |
| 29 | A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing (12362307) | Luo W.... Xia J. | 2002 | GJB1 |
| 30 | Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). (11393532) | Matsuyama W.... Osame M. | 2001 | GJB1 |
| 31 | A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (11239949) | Yoshihara T.... Sobue G. | 2001 | EGR2 |
| 32 | A novel connexin 32 missense mutation (E208G) causing Charcot-Marie- Tooth disease. (11180613) | Kochanski A.... Latos-Bielenska A. | 2001 | GJB1 |
| 33 | Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. (11571214) | Dubourg O.... Leguern E. | 2001 | GJB1 |
| 34 | Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. (11734543) | Bondurand N.... Goossens M. | 2001 | EGR2, GJB1, SOX10 |
| 35 | Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. (10891594) | Wang H.L.... Fang W. | 2000 | GJB1 |
| 36 | Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ). (11085599) | Ekici A.B.... Grehl H. | 2000 | GJB1, PMP22, MPZ |
| 37 | Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. (10751671) | Abrams C.K.... Bargiello T.A. | 2000 | GJB1 |
| 38 | Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. (10329755) | Chapon F.... Vandenberghe A. | 1999 | MPZ |
| 39 | A unique point mutation in the PMP22 gene is associated with Charcot- Marie-Tooth disease and deafness. (10330345) | Kovach M.J.... Kimonis V.E. | 1999 | PMP22 |
| 40 | Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. (9469569) | Yoshimura T.... Fujikura Y. | 1998 | GJB1, PLP1 |
| 41 | New mutations in the X-linked form of Charcot-Marie-Tooth disease. (9018031) | Latour P.... Vandenberghe A. | 1997 | GJB1 |
| 42 | Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). (9099841) | Janssen E.A.M.... Bolhuis P.A. | 1997 | GJB1, PMP22 |
| 43 | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie- Tooth disease (CMTX1). (8162049) | Fairweather N.... Haites N.E. | 1994 | GJB1 |
| 44 | A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. (8076700) | Rabadan-Diehl C.... Werner R. | 1994 | GJB1 |
| 45 | Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. (7849745) | Chance P.F.... Fischbeck K.H. | 1994 | PMP22 |
| 46 | Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (8252046) | Roa B.B.... Lupski J.R. | 1993 | PMP22 |
| 47 | Linkage of a locus (CMT4A) for autosomal recessive Ch arcot-Marie-Tooth disease to chromosome 8q. (8268915) | Ben Othmane K.... Vance J.M. | 1993 | GDAP1 |
| 48 | DNA duplication associated with Charcot-Marie-Tooth disease type 1A. (1677316) | Lupski J.R.... Patel P.I. | 1991 | PMP22, CMT1A |
| 49 | The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1. (2892777) | Raeymaekers P.... Vandenberghe A. | 1988 | DARC |
| 50 | The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. (3467805) | Ouvrier R.A.... Conchin T.E. | 1987 | MPZ |
