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Items: 1 to 20 of 133

1.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.

Am J Hum Genet. 2007 Jul;81(1):158-64. Epub 2007 May 24.

2.

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N.

Am J Hum Genet. 2007 Jul;81(1):1-16. Epub 2007 May 15.

3.

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.

Brain. 2012 Dec;135(Pt 12):3567-83. doi: 10.1093/brain/aws275. Epub 2012 Nov 20.

4.

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.

Neurology. 2009 Mar 31;72(13):1160-4. doi: 10.1212/01.wnl.0000345373.58618.b6.

PMID:
19332693
5.

Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves.

Okuda T, Higashi Y, Kokame K, Tanaka C, Kondoh H, Miyata T.

Mol Cell Biol. 2004 May;24(9):3949-56.

6.

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.

Perea J, Robertson A, Tolmachova T, Muddle J, King RH, Ponsford S, Thomas PK, Huxley C.

Hum Mol Genet. 2001 May 1;10(10):1007-18.

7.

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM.

Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc.

8.

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V.

Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2.

PMID:
23550889
9.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.

N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122.

10.

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.

Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V.

Am J Hum Genet. 2003 Oct;73(4):926-32. Epub 2003 Aug 19.

11.
12.

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V.

J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x.

PMID:
22734899
13.

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME.

J Comp Neurol. 2006 Sep 10;498(2):252-65.

PMID:
16856127
14.

Inflammatory demyelination in a patient with CMT1A.

Vital A, Vital C, Lagueny A, Ferrer X, Ribière-Bachelier C, Latour P, Petry KG.

Muscle Nerve. 2003 Sep;28(3):373-6.

PMID:
12929199
15.

Autosomal-recessive Charcot-Marie-Tooth diseases.

Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.

J Neuropathol Exp Neurol. 2005 May;64(5):363-70. Review.

PMID:
15892292
16.

Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A.

Kobsar I, Hasenpusch-Theil K, Wessig C, Müller HW, Martini R.

J Neurosci Res. 2005 Sep 15;81(6):857-64.

PMID:
16041800
17.

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM.

J Neuropathol Exp Neurol. 2014 Mar;73(3):223-33. doi: 10.1097/NEN.0000000000000047.

PMID:
24487800
18.

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.

Vallat JM, Magy L, Lagrange E, Sturtz F, Magdelaine C, Grid D, Tazir M.

Acta Neuropathol. 2007 Apr;113(4):443-9. Epub 2007 Feb 10.

PMID:
17294201
19.

Ndrg1 in development and maintenance of the myelin sheath.

King RH, Chandler D, Lopaticki S, Huang D, Blake J, Muddle JR, Kilpatrick T, Nourallah M, Miyata T, Okuda T, Carter KW, Hunter M, Angelicheva D, Morahan G, Kalaydjieva L.

Neurobiol Dis. 2011 Jun;42(3):368-80. doi: 10.1016/j.nbd.2011.01.030. Epub 2011 Feb 12.

PMID:
21303696
20.

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.

Stendel C, Roos A, Kleine H, Arnaud E, Ozçelik M, Sidiropoulos PN, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J.

Brain. 2010 Aug;133(Pt 8):2462-74. doi: 10.1093/brain/awq168.

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