Associated Papers
Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease.
Powis G et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Halperin D et al.
Neurogenetics, 2020
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D et al.
Annals of Neurology, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Wang H et al.
Frontiers in Neuroscience, 2019
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Zambon AA et al.
Neuromuscular Disorders : Nmd, 2017
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
Luigetti M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Recessively transmitted predominantly motor neuropathies.
Parman Y et al.
Handbook of Clinical Neurology, 2013
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Nouioua S et al.
Neuromuscular Disorders : Nmd, 2011
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
Goryunov D et al.
Journal of Neurochemistry, 2008
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Previtali SC et al.
Expert Reviews in Molecular Medicine, 2007
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
Bolis A et al.
Molecular Neurobiology, 2007
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Previtali SC et al.
Human Molecular Genetics, 2003
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Berger P et al.
Human Molecular Genetics, 2002
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