Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

Letter to the Editor

(2020) Perry B. Shieh et al.   HUMAN GENE THERAPY

Normal Liver Stiffness Measured with MR Elastography in Children

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Recent advances in understanding the molecular mechanisms of cholestatic pruritus: A review

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X-linked myotubular myopathy

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An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

(2018) I. Vandersmissen et al.   NEUROMUSCULAR DISORDERS

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

(2017) Alan H. Beggs et al.   MUSCLE & NERVE

A natural history study of X-linked myotubular myopathy

(2017) Kimberly Amburgey et al.   NEUROLOGY

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

(2016) Michael W. Lawlor et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

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Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

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The bile salt export pump (BSEP) in health and disease

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Phosphatidylinositol-3-kinase p110γ contributes to bile salt-induced apoptosis in primary rat hepatocytes and human hepatoma cells

(2010) Simon Hohenester et al.   JOURNAL OF HEPATOLOGY

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sequential Actions of Myotubularin Lipid Phosphatases Regulate Endosomal PI(3)P and Growth Factor Receptor Trafficking

(2008) Canhong Cao et al.   MOLECULAR BIOLOGY OF THE CELL