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Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2017, Volume 1043, pp. 113 - 140
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2013, Volume 125, Issue 3, pp. 439 - 457
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show... 
Pathology | Neurosciences | Medicine & Public Health | Vacuolar ATP-ase | Vacuolar myopathy | Splicing mutations | Autophagy | Lysosomal acidification | PROTEIN | CHAPERONE-MEDIATED AUTOPHAGY | EXCESSIVE AUTOPHAGY | PATHOLOGY | X-LINKED MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGRADATION | H+-ATPASE | MICE | SKELETAL-MUSCLES | ACCUMULATION | SUBUNIT | Vacuolar Proton-Translocating ATPases - genetics | Saccharomyces cerevisiae - genetics | Humans | Lysosomes - genetics | Lysosomal Storage Diseases - prevention & control | Male | Muscle, Skeletal - metabolism | Subcellular Fractions - pathology | Saccharomyces cerevisiae - metabolism | Lysosomes - metabolism | Time Factors | Muscular Diseases - prevention & control | Autophagy - genetics | RNA Interference - physiology | Leucine - metabolism | RNA, Messenger - genetics | Cells, Cultured | Muscle, Skeletal - ultrastructure | Adenosine Triphosphatases - metabolism | Lysosomal Storage Diseases - genetics | Muscular Diseases - pathology | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Subcellular Fractions - metabolism | Lysosomal Storage Diseases - pathology | Animals | Saccharomyces cerevisiae Proteins - metabolism | Vacuoles - metabolism | Mice | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Vacuolar Proton-Translocating ATPases - deficiency | Hydrogen-Ion Concentration | Muscles | Amino acids | Children | Adenosine triphosphatase | Diseases | Protons | Adenosinetriphosphatase | X chromosome | Chaperones | pH effects | Skeletal muscle | Atrophy | H super(+)-transporting ATPase | Cytoplasm | Phagocytosis | Myopathy
Journal Article
Journal Article
Journal Article
Journal Article
Cell, ISSN 0092-8674, 2009, Volume 137, Issue 2, pp. 235 - 246
This article has been retracted. Please see Elsevier Policy on Article Withdrawal ( ). Reason: Our paper reported the identification of mutations in the gene... 
Nervous system diseases | Children's hospitals
Journal Article
01/2018, ISBN 9780438671034
Lafora disease (LD) is an intractable, neurodegenerative epilepsy caused by loss-of-function mutations in the EPM2A or EPM2B genes. Central to LD is the... 
Genetics | Biochemistry | Molecular biology
Dissertation
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