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Items: 1 to 20 of 394

1.

Phenotype of Charcot-Marie-Tooth disease Type 2.

Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M.

Neurology. 2007 May 15;68(20):1658-67.

PMID:
17502546
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.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.

Brain. 2006 Aug;129(Pt 8):2103-18. Epub 2006 Jul 10.

PMID:
16835246
4.

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.

Lawson VH, Graham BV, Flanigan KM.

Neurology. 2005 Jul 26;65(2):197-204.

PMID:
16043786
5.

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

Choi BO, Nakhro K, Park HJ, Hyun YS, Lee JH, Kanwal S, Jung SC, Chung KW.

Clin Genet. 2015 Jun;87(6):594-8. doi: 10.1111/cge.12432. Epub 2014 Jun 18.

PMID:
24863639
6.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790
7.

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.

Arch Neurol. 2007 Jul;64(7):966-70.

PMID:
17620486
8.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR.

Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085.

9.

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Niemann A, Berger P, Suter U.

Neuromolecular Med. 2006;8(1-2):217-42. Review.

PMID:
16775378
10.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V.

Brain. 2006 Aug;129(Pt 8):2093-102. Epub 2006 May 19.

PMID:
16714318
11.

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.

BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48.

12.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.

PMID:
17347251
13.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

14.

A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.

Lv H, Wang L, Zhang W, Wang Z, Zuo Y, Liu J, Yuan Y.

J Neurol Sci. 2015 Nov 15;358(1-2):153-7. doi: 10.1016/j.jns.2015.08.1528. Epub 2015 Aug 28.

PMID:
26382835
15.

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.

16.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S.

J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22.

17.

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
18.

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C.

Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284.

PMID:
20008656
19.

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM.

Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1.

PMID:
18832141
20.

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP.

Brain. 2000 Aug;123 ( Pt 8):1612-23.

PMID:
10908191

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