These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 12554688)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. [Molecular genetics of inherited neuropathies].
    Takashima H
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
    Nelis E; Erdem S; Tan E; Löfgren A; Ceuterick C; De Jonghe P; Van Broeckhoven C; Timmerman V; Topaloglu H
    Neuromuscul Disord; 2002 Nov; 12(9):869-73. PubMed ID: 12398840
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T; Kutoku Y; Nishimura H; Hayashi M; Abe A; Hayasaka K; Sunada Y
    J Neurol Sci; 2013 Nov; 334(1-2):176-9. PubMed ID: 23962696
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
    Hirano R; Takashima H; Umehara F; Arimura H; Michizono K; Okamoto Y; Nakagawa M; Boerkoel CF; Lupski JR; Osame M; Arimura K
    Neurology; 2004 Aug; 63(3):577-80. PubMed ID: 15304601
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
    Bolino A; Lonie LJ; Zimmer M; Boerkoel CF; Takashima H; Monaco AP; Lupski JR
    Neurogenetics; 2001 Mar; 3(2):107-9. PubMed ID: 11354824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
    Bolino A; Muglia M; Conforti FL; LeGuern E; Salih MA; Georgiou DM; Christodoulou K; Hausmanowa-Petrusewicz I; Mandich P; Schenone A; Gambardella A; Bono F; Quattrone A; Devoto M; Monaco AP
    Nat Genet; 2000 May; 25(1):17-9. PubMed ID: 10802647
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
    Robinson FL; Dixon JE
    J Biol Chem; 2005 Sep; 280(36):31699-707. PubMed ID: 15998640
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
    Robinson FL; Niesman IR; Beiswenger KK; Dixon JE
    Proc Natl Acad Sci U S A; 2008 Mar; 105(12):4916-21. PubMed ID: 18349142
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
    Berger P; Bonneick S; Willi S; Wymann M; Suter U
    Hum Mol Genet; 2002 Jun; 11(13):1569-79. PubMed ID: 12045210
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
    Houlden H; King RH; Wood NW; Thomas PK; Reilly MM
    Brain; 2001 May; 124(Pt 5):907-15. PubMed ID: 11335693
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
    Pareyson D; Stojkovic T; Reilly MM; Leonard-Louis S; Laurà M; Blake J; Parman Y; Battaloglu E; Tazir M; Bellatache M; Bonello-Palot N; Lévy N; Sacconi S; Guimarães-Costa R; Attarian S; Latour P; Solé G; Megarbane A; Horvath R; Ricci G; Choi BO; Schenone A; Gemelli C; Geroldi A; Sabatelli M; Luigetti M; Santoro L; Manganelli F; Quattrone A; Valentino P; Murakami T; Scherer SS; Dankwa L; Shy ME; Bacon CJ; Herrmann DN; Zambon A; Tramacere I; Pisciotta C; Magri S; Previtali SC; Bolino A
    Ann Neurol; 2019 Jul; 86(1):55-67. PubMed ID: 31070812
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
    Robinson DC; Mammel AE; Logan AM; Larson AA; Schmidt EJ; Condon AF; Robinson FL
    ASN Neuro; 2018; 10():1759091418803282. PubMed ID: 30419760
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
    Chen M; Wu J; Liang N; Tang L; Chen Y; Chen H; Wei W; Wei T; Huang H; Yi X; Qi M
    Genomics Proteomics Bioinformatics; 2014 Oct; 12(5):221-7. PubMed ID: 25462154
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.