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Items: 1 to 20 of 139

1.

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR.

Ann Neurol. 2002 Jun;51(6):709-15.

PMID:
12112076
2.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790
3.

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K.

J Hum Genet. 2004;49(7):376-9. Epub 2004 Jun 12.

PMID:
15197604
4.

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G.

Brain. 2004 Nov;127(Pt 11):2540-50. Epub 2004 Oct 6. Erratum in: Brain. 2007 Jul;130(7):1972. Necefov, Ayaz [corrected to Najafov, Ayaz].

PMID:
15469949
5.

Four novel cases of periaxin-related neuropathy and review of the literature.

Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.

Neurology. 2010 Nov 16;75(20):1830-8. doi: 10.1212/WNL.0b013e3181fd6314. Review.

PMID:
21079185
6.

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
7.

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C.

Neurology. 1999 Jun 10;52(9):1827-32.

PMID:
10371530
8.

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M.

Hum Mol Genet. 2001 Feb 15;10(4):415-21.

PMID:
11157804
9.

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.

PMID:
14711881
10.

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.

Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.

Ann Neurol. 1997 Apr;41(4):463-9.

PMID:
9124803
11.

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
12.
13.

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.

Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M.

Neuromuscul Disord. 2011 Aug;21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.

PMID:
21741241
14.
15.

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
16.

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G.

Ann Neurol. 1999 Apr;45(4):518-22.

PMID:
10211478
17.

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H.

Neurogenetics. 2012 Nov;13(4):359-65. doi: 10.1007/s10048-012-0338-5. Epub 2012 Aug 1.

PMID:
22847150
18.

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.

19.

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.

Arch Neurol. 2003 Apr;60(4):598-604.

PMID:
12707075
20.

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.

Neurogenetics. 2003 Aug;4(4):191-7. Epub 2003 Jul 5.

PMID:
12845552

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