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Results: 1 to 20 of 256

1.

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.

PMID:
17564959
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
17564972
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
19221294
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23171661
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

PMID:
11799477
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
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 Apr 2. doi: 10.1111/ahg.12017. [Epub ahead of print]

PMID:
23550889
[PubMed - as supplied by publisher]
9.

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.

PMID:
14574644
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.

Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8.

PMID:
12687498
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.

Pasteris NG, Nagata K, Hall A, Gorski JL.

Gene. 2000 Jan 25;242(1-2):237-47.

PMID:
10721717
[PubMed - indexed for MEDLINE]
13.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790
[PubMed - indexed for MEDLINE]
14.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E.

J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74.

PMID:
10209165
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D.

Neuromuscul Disord. 2003 Jan;13(1):60-7.

PMID:
12467734
[PubMed - indexed for MEDLINE]
16.

Importance of spatial activation of Cdc42 and rac small G proteins by frabin for microspike formation in MDCK cells.

Yasuda T, Ohtsuka T, Inoue E, Yokoyama S, Sakisaka T, Kodama A, Takaishi K, Takai Y.

Genes Cells. 2000 Jul;5(7):583-91.

PMID:
10947844
[PubMed - indexed for MEDLINE]
17.

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.

Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.

PMID:
11112660
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.

Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19.

PMID:
18492089
[PubMed - indexed for MEDLINE]
19.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

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

PMID:
16106622
[PubMed - indexed for MEDLINE]
20.

Role of guanine nucleotide exchange factors for Rho family GTPases in the regulation of cell morphology and actin cytoskeleton in fission yeast.

Iwaki N, Karatsu K, Miyamoto M.

Biochem Biophys Res Commun. 2003 Dec 12;312(2):414-20.

PMID:
14637153
[PubMed - indexed for MEDLINE]

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