Literature DB >> 15477569

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).

F L Conforti1, M Muglia, R Mazzei, A Patitucci, P Valentino, A Magariello, T Sprovieri, F Bono, C Bergmann, A L Gabriele, G Peluso, R Nisticò, J Senderek, A Quattrone.   

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Year:  2004        PMID： 15477569     DOI： 10.1212/01.wnl.0000140617.02312.80

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  8 in total

1.  Genetics of non-conventional lipoprotein fractions.

Authors:  Alexis C Frazier-Wood
Journal:  Curr Genet Med Rep       Date:  2015-08-29

Review 2.  Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.

Authors:  Samuel M Lee; Lih-Shen Chin; Lian Li
Journal:  Mol Neurobiol       Date:  2016-01-05       Impact factor: 5.590

3.  Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

Authors:  Adel M Abuzenadah; Galila F Zaher; Ashraf Dallol; Ghazi A Damanhouri; Adeel G Chaudhary; Faten Al-Sayes; Mamdooh A Gari; Mofareh AlZahrani; Salwa Hindawi; Mohammed H Al-Qahtani
Journal:  J Thromb Thrombolysis       Date:  2013-11       Impact factor: 2.300

Review 4.  Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.

Authors:  Annalisa Bolis; Paola Zordan; Silvia Coviello; Alessandra Bolino
Journal:  Mol Neurobiol       Date:  2007-06       Impact factor: 5.590

5.  A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Authors:  Davide Pareyson; Tanya Stojkovic; Mary M Reilly; Sarah Leonard-Louis; Matilde Laurà; Julian Blake; Yesim Parman; Esra Battaloglu; Meriem Tazir; Mounia Bellatache; Nathalie Bonello-Palot; Nicolas Lévy; Sabrina Sacconi; Raquel Guimarães-Costa; Sharham Attarian; Philippe Latour; Guilhem Solé; André Megarbane; Rita Horvath; Giulia Ricci; Byung-Ok Choi; Angelo Schenone; Chiara Gemelli; Alessandro Geroldi; Mario Sabatelli; Marco Luigetti; Lucio Santoro; Fiore Manganelli; Aldo Quattrone; Paola Valentino; Tatsufumi Murakami; Steven S Scherer; Lois Dankwa; Michael E Shy; Chelsea J Bacon; David N Herrmann; Alberto Zambon; Irene Tramacere; Chiara Pisciotta; Stefania Magri; Stefano C Previtali; Alessandra Bolino
Journal:  Ann Neurol       Date:  2019-05-27       Impact factor: 11.274

6.  Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

Authors:  Luís Negrão; Luciano Almendra; Joana Ribeiro; Anabela Matos; Argemiro Geraldo; Jorge Pinto-Basto
Journal:  Acta Myol       Date:  2014-12

7.  Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.

Authors:  Meiyan Chen; Jing Wu; Ning Liang; Lihui Tang; Yanhua Chen; Huishuang Chen; Wei Wei; Tianying Wei; Hui Huang; Xin Yi; Ming Qi
Journal:  Genomics Proteomics Bioinformatics       Date:  2014-10-28       Impact factor: 7.691

8.  Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model.

Authors:  Nicolas Granger; Alejandro Luján Feliu-Pascual; Charlotte Spicer; Sally Ricketts; Rebekkah Hitti; Oliver Forman; Joshua Hersheson; Henry Houlden
Journal:  PeerJ       Date:  2019-11-21       Impact factor: 2.984
  8 in total

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