147 related articles for article (PubMed ID: 16750429)
1. Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
Kirfel J; Senderek J; Moser M; Röper A; Stendel C; Bergmann C; Zerres K; Buettner R
Gene Expr Patterns; 2006 Oct; 6(8):978-84. PubMed ID: 16750429
[TBL] [Abstract][Full Text] [Related]
2. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
3. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Senderek J; Bergmann C; Weber S; Ketelsen UP; Schorle H; Rudnik-Schöneborn S; Büttner R; Buchheim E; Zerres K
Hum Mol Genet; 2003 Feb; 12(3):349-56. PubMed ID: 12554688
[TBL] [Abstract][Full Text] [Related]
4. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.
Berger P; Berger I; Schaffitzel C; Tersar K; Volkmer B; Suter U
Hum Mol Genet; 2006 Feb; 15(4):569-79. PubMed ID: 16399794
[TBL] [Abstract][Full Text] [Related]
5. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
Tersar K; Boentert M; Berger P; Bonneick S; Wessig C; Toyka KV; Young P; Suter U
Hum Mol Genet; 2007 Dec; 16(24):2991-3001. PubMed ID: 17855448
[TBL] [Abstract][Full Text] [Related]
6. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV; Mersiyanova I; Irobi J; Van Den Bosch L; Dierick I; Leung CL; Schagina O; Verpoorten N; Van Impe K; Fedotov V; Dadali E; Auer-Grumbach M; Windpassinger C; Wagner K; Mitrovic Z; Hilton-Jones D; Talbot K; Martin JJ; Vasserman N; Tverskaya S; Polyakov A; Liem RK; Gettemans J; Robberecht W; De Jonghe P; Timmerman V
Nat Genet; 2004 Jun; 36(6):602-6. PubMed ID: 15122254
[TBL] [Abstract][Full Text] [Related]
7. Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.
Ng GY; McDonald T; Bonnert T; Rigby M; Heavens R; Whiting P; Chateauneuf A; Coulombe N; Kargman S; Caskey T; Evans J; O'neill GP; Liu Q
Genomics; 1999 Mar; 56(3):288-95. PubMed ID: 10087195
[TBL] [Abstract][Full Text] [Related]
8. An animal model for Charcot-Marie-Tooth disease type 4B1.
Bonneick S; Boentert M; Berger P; Atanasoski S; Mantei N; Wessig C; Toyka KV; Young P; Suter U
Hum Mol Genet; 2005 Dec; 14(23):3685-95. PubMed ID: 16249189
[TBL] [Abstract][Full Text] [Related]
9. [Charcot-Marie-Tooth disease].
Lee YC; Chang MH; Lin KP
Acta Neurol Taiwan; 2008 Sep; 17(3):203-13. PubMed ID: 18975529
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18492089
[TBL] [Abstract][Full Text] [Related]
11. Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
Negrão L; Almendra L; Ribeiro J; Matos A; Geraldo A; Pinto-Basto J
Acta Myol; 2014 Dec; 33(3):144-8. PubMed ID: 25873783
[TBL] [Abstract][Full Text] [Related]
12. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Jordanova A; Irobi J; Thomas FP; Van Dijck P; Meerschaert K; Dewil M; Dierick I; Jacobs A; De Vriendt E; Guergueltcheva V; Rao CV; Tournev I; Gondim FA; D'Hooghe M; Van Gerwen V; Callaerts P; Van Den Bosch L; Timmermans JP; Robberecht W; Gettemans J; Thevelein JM; De Jonghe P; Kremensky I; Timmerman V
Nat Genet; 2006 Feb; 38(2):197-202. PubMed ID: 16429158
[TBL] [Abstract][Full Text] [Related]
13. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
Berger P; Niemann A; Suter U
Glia; 2006 Sep; 54(4):243-57. PubMed ID: 16856148
[TBL] [Abstract][Full Text] [Related]
14. Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Laššuthová P; Vill K; Erdem-Ozdamar S; Schröder JM; Topaloglu H; Horvath R; Müller-Felber W; Bansagi B; Schlotter-Weigel B; Gläser D; Neupauerová J; Sedláčková L; Staněk D; Mazanec R; Weis J; Seeman P; Senderek J
Clin Genet; 2018 Nov; 94(5):467-472. PubMed ID: 30028002
[TBL] [Abstract][Full Text] [Related]
15. Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene.
Gao Y; Jheon A; Nourkeyhani H; Kobayashi H; Ganss B
Gene; 2004 Oct; 341():101-10. PubMed ID: 15474293
[TBL] [Abstract][Full Text] [Related]
16. [Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM; Grid D; Magdelaine C; Sturtz F; Levy N; Tazir M
Bull Acad Natl Med; 2005 Jan; 189(1):55-68; discussion 68-9. PubMed ID: 16119880
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 12687498
[TBL] [Abstract][Full Text] [Related]
18. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Claramunt R; Sevilla T; Lupo V; Cuesta A; Millán JM; Vílchez JJ; Palau F; Espinós C
Clin Genet; 2007 Apr; 71(4):343-9. PubMed ID: 17470135
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S; Noureddine M; Kennerson M; Verhoeven K; Claeys K; De Jonghe P; Merory J; Oliveira SA; Speer MC; Stenger JE; Walizada G; Zhu D; Pericak-Vance MA; Nicholson G; Timmerman V; Vance JM
Nat Genet; 2005 Mar; 37(3):289-94. PubMed ID: 15731758
[TBL] [Abstract][Full Text] [Related]
20. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.
Zhai J; Lin H; Julien JP; Schlaepfer WW
Hum Mol Genet; 2007 Dec; 16(24):3103-16. PubMed ID: 17881652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
