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Results: 1 to 20 of 151

Similar articles for PubMed (Select 1303228)

1.

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
2.

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R, et al.

Nat Genet. 1992 Jun;1(3):176-9.

PMID:
1303231
3.

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
4.

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
5.

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, et al.

Nat Genet. 1992 Jun;1(3):166-70.

PMID:
1303229
6.

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
7.
8.

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.

PMID:
8862346
9.

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.

J Med Genet. 1994 Oct;31(10):811-5.

10.

[Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].

Yoshikawa H, Nishimura T, Yanagihara T.

Rinsho Shinkeigaku. 1995 Dec;35(12):1441-3. Review. Japanese.

PMID:
8752424
11.

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

Blair IP, Kennerson ML, Nicholson GA.

Clin Chem. 1995 Aug;41(8 Pt 1):1105-8.

12.

Genetic basis of inherited peripheral neuropathies.

Suter U, Patel PI.

Hum Mutat. 1994;3(2):95-102. Review.

PMID:
7515304
13.

Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?

Meekins GD, Emery MJ, Weiss MD.

J Peripher Nerv Syst. 2004 Sep;9(3):177-82.

PMID:
15363066
14.

Charcot-Marie-Tooth syndrome.

Chance PF, Pleasure D.

Arch Neurol. 1993 Nov;50(11):1180-4. Review.

PMID:
8215977
15.

Inherited neuropathies: from gene to disease.

Keller MP, Chance PF.

Brain Pathol. 1999 Apr;9(2):327-41. Review.

PMID:
10219749
16.

[A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].

Inoue M, Kojima M, Aikoh H, Sugai K, Murakami N, Nonaka I, Hayasaka K, Yamamoto M, Sobue G.

No To Hattatsu. 1999 Sep;31(5):452-7. Japanese.

PMID:
10487071
17.

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR.

Nat Genet. 1992 Dec;2(4):292-300.

PMID:
1303282
18.

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
19.

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.

Hum Genet. 1996 May;97(5):642-9.

PMID:
8655146
20.
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