PMC Articles for MedGen (Select 346869) - PMC

Select item 65814411.

A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs)

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

Ann Neurol. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Ann Neurol. 2019 Jul; 86(1): 55–67. Published online 2019 May 27. doi: 10.1002/ana.25500

PMCID:: PMC6581441

Article PDF–771K

Select item 62364872.

An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination

Danielle C. Robinson, Anna E. Mammel, Anne M. Logan, Aubree A. Larson, Eric J. Schmidt, Alec F. Condon, Fred L. Robinson

ASN Neuro. 2018 Jan-Dec; 10: 1759091418803282. Published online 2018 Nov 12. doi: 10.1177/1759091418803282

PMCID:: PMC6236487

Article PDF–2.1M

Select item 59398523.

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

Nathalie Danièle, Christelle Moal, Laura Julien, Martina Marinello, Thibaud Jamet, Samia Martin, Alban Vignaud, Michael W Lawlor, Ana Buj-Bello

J Neuropathol Exp Neurol. 2018 Apr; 77(4): 282–295. Published online 2018 Feb 2. doi: 10.1093/jnen/nly002

PMCID:: PMC5939852

Article PDF–1.6M

Select item 53476884.

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans

Bryan P. Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D. Miller, Anne O'Neill, Joseph A. Sparano, Gloria Xue, Tatiana Foroud, George W. Sledge, Jr

Oncotarget. 2016 Dec 13; 7(50): 82244–82253. Published online 2016 Oct 9. doi: 10.18632/oncotarget.12545

PMCID:: PMC5347688

Article PDF–1.3M

Select item 48301945.

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Marta Romani, Cybel Mehawej, Tommaso Mazza, Andre Mégarbané, Enza Maria Valente

Neurol Genet. 2016 Apr; 2(2): e61. Published online 2016 Mar 3. doi: 10.1212/NXG.0000000000000061

PMCID:: PMC4830194

Article PDF–236K

Select item 44114146.

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi

Genomics Proteomics Bioinformatics. 2014 Oct; 12(5): 221–227. Published online 2014 Oct 28. doi: 10.1016/j.gpb.2014.09.003

PMCID:: PMC4411414

Article PDF–718K

Select item 43698507.

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

LUÍS NEGRÃO, LUCIANO ALMENDRA, JOANA RIBEIRO, ANABELA MATOS, ARGEMIRO GERALDO, JORGE PINTO-BASTO

Acta Myol. 2014 Dec; 33(3): 144–148.

PMCID:: PMC4369850

Article PDF–252K

Select item 36058288.

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression

Aubree A. Ng, Anne M. Logan, Eric J. Schmidt, Fred L. Robinson

Hum Mol Genet. 2013 Apr 15; 22(8): 1493–1506. Published online 2013 Jan 7. doi: 10.1093/hmg/dds562

PMCID:: PMC3605828

Article PDF–700K

Select item 22908009.

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot–Marie–Tooth 4B2-like peripheral neuropathy in mice

Fred L. Robinson, Ingrid R. Niesman, Kristina K. Beiswenger, Jack E. Dixon

Proc Natl Acad Sci U S A. 2008 Mar 25; 105(12): 4916–4921. Published online 2008 Mar 18. doi: 10.1073/pnas.0800742105

PMCID:: PMC2290800

Article PDF–1.2M

Select item 118026710.

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

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

Am J Hum Genet. 2003 May; 72(5): 1141–1153. Published online 2003 Apr 8. doi: 10.1086/375034

PMCID:: PMC1180267

Article PDF–763K

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