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Items: 1 to 20 of 94

1.

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P.

Hum Mutat. 1999 Oct;14(4):353-4.

PMID:
10502832
2.

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G.

J Neurol Sci. 2001 Mar 1;184(2):149-53.

PMID:
11239949
3.

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.

Nat Genet. 1998 Apr;18(4):382-4.

PMID:
9537424
4.

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Warner LE, Svaren J, Milbrandt J, Lupski JR.

Hum Mol Genet. 1999 Jul;8(7):1245-51.

PMID:
10369870
5.

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C.

Neurology. 1999 Jun 10;52(9):1827-32.

PMID:
10371530
6.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

Suppl Clin Neurophysiol. 2004;57:228-42. Review.

PMID:
16106622
7.

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.

Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P.

J Med Genet. 2002 Dec;39(12):e81. No abstract available.

8.

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR.

Neurogenetics. 2001 Jul;3(3):153-7.

PMID:
11523566
9.

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR.

Neurogenetics. 2007 Nov;8(4):257-62. Epub 2007 Aug 24.

PMID:
17717711
10.

Regulation of myelin-specific gene expression. Relevance to CMT1.

Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.

Ann N Y Acad Sci. 1999 Sep 14;883:91-108. Review.

PMID:
10586235
11.

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.

Ann Neurol. 2002 Feb;51(2):190-201.

PMID:
11835375
12.

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L.

Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27.

13.

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Ceuterick C, Martin JJ, Van Broeckhoven C.

Arch Neurol. 1999 Oct;56(10):1283-8.

PMID:
10520946
14.

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

Musso M, Balestra P, Taroni F, Bellone E, Mandich P.

Neurobiol Dis. 2003 Feb;12(1):89-95.

PMID:
12609493
15.

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM.

Neuromolecular Med. 2006;8(1-2):43-62. Review.

PMID:
16775366
16.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
17.

Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO.

Neurogenetics. 2005 Sep;6(3):159-63. Epub 2005 Sep 28.

PMID:
15947997
18.

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N.

Neurology. 2001 Jul 10;57(1):101-5.

PMID:
11445635
19.

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N.

Genet Med. 2006 Aug;8(8):532-5.

PMID:
16912585
20.

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F.

Hum Mutat. 2001;18(1):32-41.

PMID:
11438991

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