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Items: 1 to 20 of 428

1.

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.

Hum Mutat. 1996;7(1):36-45.

PMID:
8664899
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.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

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

PMID:
16106622
4.

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.

Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML.

Hum Mutat. 1996;8(4):304-10.

PMID:
8956034
5.

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.

Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 7. Review.

6.

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
7.

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP.

J Neurol Sci. 2004 Apr 15;219(1-2):95-100.

PMID:
15050444
8.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
9.

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

Nowakowski A, Kochański A.

Acta Biochim Pol. 2004;51(1):273-80.

10.

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.

Hum Mutat. 2002 Nov;20(5):392-8.

PMID:
12402337
11.

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, et al.

Hum Mutat. 1995;6(1):50-4.

PMID:
7550231
12.

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.

Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K, Uyemura K, Hayasaka K.

Neurosci Lett. 1996 Feb 9;204(3):173-6.

PMID:
8938258
13.

[Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].

Hayasaka K.

Rinsho Shinkeigaku. 1995 Dec;35(12):1444-6. Review. Japanese.

PMID:
8752425
14.

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.

Eur J Paediatr Neurol. 2004;8(4):221-4.

PMID:
15261887
15.

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM.

Brain Pathol. 2000 Apr;10(2):235-48.

PMID:
10764043
16.

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Su Y, Brooks DG, Li L, Lepercq J, Trofatter JA, Ravetch JV, Lebo RV.

Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10856-60.

17.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.

Hum Mutat. 2000;15(4):340-7. Erratum in: Hum Mutat 2000;16(2):175.

PMID:
10737979
18.

Inherited neuropathies: from gene to disease.

Keller MP, Chance PF.

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

PMID:
10219749
19.

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.

20.

Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).

Zschüntzsch J, Dibaj P, Pilgram S, Kötting J, Gerding WM, Neusch C.

J Neurol Sci. 2009 Jun 15;281(1-2):113-5. doi: 10.1016/j.jns.2009.03.008. Epub 2009 Apr 3.

PMID:
19344920
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