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Items: 1 to 20 of 105

1.

Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.

Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H.

Neurogenetics. 2012 Feb;13(1):77-82. doi: 10.1007/s10048-012-0313-1. Epub 2012 Jan 25.

PMID:
22271166
2.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
3.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PMID:
21252112
4.

The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.

Reményi V, Inczédy-Farkas G, Gál A, Bereznai B, Pál Z, Karcagi V, Mechler F, Molnár MJ.

Ideggyogy Sz. 2014 Nov 30;67(11-12):420-5.

PMID:
25720245
5.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

6.

A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.

Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M.

J Peripher Nerv Syst. 2012 Jun;17(2):206-9. doi: 10.1111/j.1529-8027.2012.00403.x.

PMID:
22734907
7.

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24.

PMID:
26204789
8.

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P.

Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11.

9.

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.

Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379.

PMID:
22131320
10.

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.

Keckarevic-Markovic M, Milic-Rasic V, Mladenovic J, Dackovic J, Kecmanovic M, Keckarevic D, Savic-Pavicevic D, Romac S.

J Peripher Nerv Syst. 2009 Jun;14(2):125-36. doi: 10.1111/j.1529-8027.2009.00222.x.

PMID:
19691535
11.

Successful alternative treatment containing vindesine for acute lymphoblastic leukemia with Charcot-Marie-Tooth disease.

Ichikawa M, Suzuki D, Inamoto J, Ohshima J, Cho Y, Saitoh S, Kaneda M, Iguchi A, Ariga T.

J Pediatr Hematol Oncol. 2012 Apr;34(3):239-41. doi: 10.1097/MPH.0b013e3182352cf5.

PMID:
22246157
12.

Vincristine neuropathy: neurophysiological and genetic studies in a case of Wilms tumor.

Schiavetti A, Frascarelli M, Uccini S, Novelli A.

Pediatr Blood Cancer. 2004 Oct;43(5):606-9.

PMID:
15382281
13.

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
14.

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D.

Int J Mol Med. 2001 Oct;8(4):461-8.

PMID:
11562788
15.

Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia.

Nishikawa T, Kawakami K, Kumamoto T, Tonooka S, Abe A, Hayasaka K, Okamoto Y, Kawano Y.

J Pediatr Hematol Oncol. 2008 Jul;30(7):519-21. doi: 10.1097/MPH.0b013e31816624a4.

PMID:
18797198
16.

Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study.

Hsieh SY, Kuo HC, Chu CC, Lin KP, Huang CC.

Chang Gung Med J. 2004 Apr;27(4):300-6.

17.

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
19.

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan.

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PMID:
12477701
20.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790

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