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Items: 1 to 20 of 106

1.

Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.

Young T, Shuey N, Partridge J, Bremner FD, Nicholl DJ.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):234-6. doi: 10.1136/jnnp-2012-302469. Epub 2012 Nov 29. No abstract available.

PMID:
23197742
2.

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

Murphy SM, Laurá M, Blake J, Polke J, Bremner F, Reilly MM.

Neuromuscul Disord. 2011 Mar;21(3):223-6. doi: 10.1016/j.nmd.2010.12.010. Epub 2011 Jan 21.

PMID:
21256749
3.

Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).

Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl H.

Neurogenetics. 2000 Sep;3(1):49-50. No abstract available.

PMID:
11085599
4.

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H, Kabzińska D, Moszyńska I, Strugalska-Cynowska H, Hausmanowa-Petrusewicz I, Kochański A.

J Appl Genet. 2011 May;52(2):177-83. doi: 10.1007/s13353-010-0003-3. Epub 2010 Nov 3.

PMID:
21107784
5.

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.

Bienfait HM, Baas F, Gabreëls-Festen AA, Koelman JH, Langerhorst CT, de Visser M.

Neuromuscul Disord. 2002 Mar;12(3):281-5.

PMID:
11801400
6.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
7.

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
8.

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.

Bienfait HM, Faber CG, Baas F, Gabreëls-Festen AA, Koelman JH, Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M.

J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):534-7.

9.

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M.

Clin Genet. 2011 Nov;80(5):497-9. doi: 10.1111/j.1399-0004.2011.01657.x. No abstract available.

PMID:
22243284
10.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

11.

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.

Lee YC, Soong BW, Liu YT, Lin KP, Kao KP, Wu ZA.

J Neurol. 2005 Feb;252(2):151-5.

PMID:
15729519
12.

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK, Kim BJ, Sung DH, Ki CS, Kim JW.

Clin Genet. 2006 Sep;70(3):253-6. No abstract available.

PMID:
16922730
13.
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: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD.

Neuromuscul Disord. 2002 Oct;12(7-8):643-50.

PMID:
12207932
16.

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al.

Eur J Hum Genet. 1996;4(1):25-33.

PMID:
8800924
17.

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.

Gess B, Schirmacher A, Boentert M, Young P.

Neuromuscul Disord. 2013 Aug;23(8):647-51. doi: 10.1016/j.nmd.2013.05.005. Epub 2013 Jun 3.

PMID:
23743332
18.

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW.

Hum Mutat. 2003 Jan;21(1):100.

PMID:
12497641
19.

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
20.

Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.

Eggers SD, Keswani SC, Melli G, Cornblath DR.

Muscle Nerve. 2004 Jun;29(6):867-9.

PMID:
15170620

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