| 1 | Small heat-shock protein HSPB1 mutants stabilize micr otubules in Charcot-Marie-Tooth neuropathy. (22031878) | Almeida-Souza L.... Janssens S. | 2011 | HSPB1 |
| 2 | TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. (21288981) | Klein C.J.... Dyck P.J. | 2011 | TRPV4 |
| 3 | Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. (20220177) | Lupski J.R.... Gibbs R.A. | 2010 | SH3TC2 |
| 4 | Increased monomerization of mutant HSPB1 leads to pro tein hyperactivity in Charcot-Marie-Tooth neuropathy. (20178975) | Almeida-Souza L.... Janssens S. | 2010 | HSPB1 |
| 5 | Phenotypic spectrum of dynamin 2 mutations in Charcot -Marie-Tooth neuropathy. (19502294) | Claeys K.G.... De Jonghe P. | 2009 | DNM2 |
| 6 | Dominant mutations in the tyrosyl-tRNA synthetase gen e recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. (19561293) | Storkebaum E.... Jordanova A. | 2009 | YARS |
| 7 | The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. (19329989) | Abe A.... Hayasaka K. | 2009 | GARS |
| 8 | Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. (18425620) | Brockmann K.... Rautenstrauss B. | 2008 | MFN2 |
| 9 | Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. (17309650) | Cho H.J.... Ki C.S. | 2007 | MFN2 |
| 10 | Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. (16373087) | Beauvais K.... Latour P. | 2006 | EGR2, GJB1, LITAF |
| 11 | Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. (17030746) | Sabet A.... Cambi F. | 2006 | MPZ |
| 12 | Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. (16429158) | Jordanova A.... Timmerman V. | 2006 | FABP3, RBBP4, YARS |
| 13 | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). (16762064) | Engelfried K.... Meins M. | 2006 | MFN2 |
| 14 | Myelin disorders: Causes and perspectives of Charcot-Marie-Tooth neuropathy. (16632877) | Meyer Zu HAPrste G.... Sereda M.W. | 2006 | PMP22 |
| 15 | Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (15549395) | Kijima K.... Hayasaka K. | 2005 | MFN2, KIF1B |
| 16 | Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. (16041800) | Kobsar I.... Martini R. | 2005 | PMP22, MPZ |
| 17 | The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot- Marie-Tooth neuropathy. (14733962) | Zuechner S.... Schroeder J.M. | 2004 | NEFL |
| 18 | Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. (15508871) | Wu T.... Huang C.C. | 2004 | GJB1 |
| 19 | Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (15241803) | Choi B.-O.... Chung K.W. | 2004 | EGR2, NEFL, GJB1 |
| 20 | Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. (15064763) | Zuechner S.... Vance J.M. | 2004 | MFN2 |
| 21 | Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. (12554688) | Senderek J.... Zerres K. | 2003 | MTMR2, MTM1, SBF2 |
| 22 | Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. (12207932) | Street V.A.... Bird T.D. | 2002 | GJB1, PMP22, MPZ |
| 23 | Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. (11533912) | Kennerson M.L.... Nicholson G.A. | 2001 | DNM2 |
| 24 | Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. (11545686) | Takashima H.... Lupski J.R. | 2001 | EGR2, GJB1, PMP22 |
| 25 | Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. (10965800) | Fabrizi G.M.... Rizzuto N. | 2000 | MPZ |
| 26 | Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met. (10764043) | Senderek J.... Schroder J.M. | 2000 | MPZ |
| 27 | Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. (10737979) | Mersiyanova I.V.... Evgrafov O.V. | 2000 | GJB1, PMP22, MPZ |
| 28 | Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene. (10894999) | Felice K.J.... Seltzer W.K. | 2000 | GJB1 |
| 29 | Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (10489052) | Fabrizi G.M.... Rizzuto N. | 1999 | PMP22, CMT1A |
| 30 | Mutation testing in Charcot-Marie-Tooth neuropathy. (10586262) | Nicholson G.A. | 1999 | MPZ |
| 31 | Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. (9626246) | Fabrizi G.M.... Rizzuto N. | 1998 | PMP22 |
| 32 | Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. (9324088) | Ionasescu V.V.... Arberas C. | 1997 | PMP22 |
| 33 | Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie- Tooth neuropathy type 1: identification of five new mutations. (8990008) | Nelis E.... Van Broeckhoven C. | 1997 | GJB1 |
| 34 | Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. (8807343) | Schiavon F.... Mostacciuolo M.L. | 1996 | GJB1 |
| 35 | A point mutation in codon 3 of connexin-32 is associated with X- linked Charcot-Marie-Tooth neuropathy. (8956046) | Gupta S.... Guernsey D. | 1996 | GJB1 |
| 36 | X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. (8698335) | Ressot C.... Pham-Dinh D. | 1996 | GJB1 |
| 37 | Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. (8757034) | Ionasescu V.V.... Werner R. | 1996 | GJB1 |
| 38 | Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (8628473) | Timmerman V.... Van Broeckhoven C. | 1996 | GJB1 |
| 39 | Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. (8004109) | Ionasescu V.... Ionasescu R. | 1994 | GJB1 |
| 40 | Molecular genetics of Charcot-Marie-Tooth neuropathy. (7762451) | Roa B.B.... Lupski J.R. | 1994 | PMP22, MPZ |
| 41 | X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38- methionine substitution of connexin32. (7833935) | Orth U.... Gal A. | 1994 | GJB1 |
| 42 | Charcot-Marie-Tooth Neuropathy T ype 2D/Distal Spinal Muscular Atrophy V (20301420) | Goldfarb L.G.... Sivakumar K. | 1993 | GARS, BSCL2 |
| 43 | Charcot-Marie-Tooth Neuropathy T ype 4C (20301514) | Azzedine H.... Leguern E. | 1993 | SH3TC2 |
| 44 | Charcot-Marie-Tooth Neuropathy X Type 1 (20301548) | Bird T.D. | 1993 | GJB1 |
| 45 | New mutation of the myelin P0 gene in a pedigree of Charcot-Marie- Tooth neuropathy 1. (7505151) | Himoro M.... Hayasaka K. | 1993 | MPZ |
| 46 | Charcot-Marie-Tooth Neuropathy X Type 5 (20301731) | Kim J.W.... Kim H.J. | 1993 | PRPS1 |
| 47 | Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. (7688964) | Hayasaka K.... Murai Y. | 1993 | MPZ |
| 48 | Charcot-Marie-Tooth Neuropathy Type 4A (20301711) | Zuchner S.... Vance J.M. | 1993 | GDAP1 |
| 49 | Charcot-Marie-Tooth Neuropathy Ty pe 1 (20301384) | Bird T.D. | 1993 | DNM2, EGR2, NEFL |
| 50 | Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. (1822787) | Raeymaekers P.... Bolhuis P.A. | 1991 | PMP22 |
