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Items: 1 to 20 of 102

1.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B.

Neurogenetics. 2009 Oct;10(4):275-87. doi: 10.1007/s10048-009-0183-3. Epub 2009 Mar 17. Erratum in: Neurogenetics. 2009 Oct;10(4):375-6. Sereda, Michael [corrected to Sereda, Michael Werner]; Stassart, Ruth Martha [added].

2.

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.

3.

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U.

Nat Genet. 1992 Jun;1(3):159-65.

PMID:
1303228
4.

A transgenic rat model of Charcot-Marie-Tooth disease.

Sereda M, Griffiths I, Pühlhofer A, Stewart H, Rossner MJ, Zimmerman F, Magyar JP, Schneider A, Hund E, Meinck HM, Suter U, Nave KA.

Neuron. 1996 May;16(5):1049-60.

5.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Zu Horste GM, Nave KA, Reis A, Rautenstrauss B.

Neurogenetics. 2009 Oct;10(4):375-376. No abstract available.

6.

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
7.

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F.

Hum Genet. 1997 Jun;99(6):746-54.

PMID:
9187667
8.

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR.

N Engl J Med. 1993 Jul 8;329(2):96-101.

9.

Animal models of Charcot-Marie-Tooth disease type 1A.

Sereda MW, Nave KA.

Neuromolecular Med. 2006;8(1-2):205-16. Review.

PMID:
16775377
10.

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.

Lupski JR, Garcia CA.

Brain Pathol. 1992 Oct;2(4):337-49. Review.

PMID:
1341967
11.

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al.

Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84.

PMID:
1303230
12.

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Hayasaka K, Takada G, Ionasescu VV.

Hum Mol Genet. 1993 Sep;2(9):1369-72.

PMID:
7694726
13.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

14.

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA.

Nat Genet. 1992 Dec;2(4):288-91.

PMID:
1303281
15.
16.

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF.

Neurology. 2003 Jan 14;60(1):22-6.

PMID:
12525712
17.

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

Sinkiewicz-Darol E, Kabzińska D, Moszyńska I, Kochański A.

Acta Biochim Pol. 2010;57(3):373-7. Epub 2010 Sep 15.

18.

Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y.

Biochem Biophys Res Commun. 1993 Aug 16;194(3):1317-22.

PMID:
7688964
19.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

20.

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F.

Neurology. 1997 Feb;48(2):489-93.

PMID:
9040744

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