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Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 42 - 63
Journal Article
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2008, Volume 31, Issue 7, pp. 499 - 502
Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline... 
Neurology | Retinopathy | Neurodegeneration | Lysosomal storage disorder | Dementia | PROTEIN | GENE | DISEASE | MUTATION | CLINICAL NEUROLOGY | CATHEPSIN-D DEFICIENCY | Neuronal Ceroid-Lipofuscinoses - therapy | Diagnosis, Differential | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Humans | Age of Onset | Mutation | Neuronal Ceroid-Lipofuscinoses - diagnosis | Children | Neurons | Diseases
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2/2008, Volume 17, Issue 4, pp. 469 - 477
It is estimated that more than 40 different lysosomal storage disorders (LSDs) cumulatively affect one in 5000 live births, and in the majority of the LSDs,... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | NEURONAL CEROID-LIPOFUSCINOSES | THIOESTERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | LEADS | ENDOPLASMIC-RETICULUM STRESS | INCL | BRAIN | Gangliosidosis, GM1 - metabolism | Superoxide Dismutase - genetics | Apoptosis - drug effects | Humans | Endoplasmic Reticulum - metabolism | RNA, Messenger - metabolism | Lysosomal Storage Diseases, Nervous System - pathology | Neuronal Ceroid-Lipofuscinoses - pathology | Calnexin - genetics | Mitochondrial Proton-Translocating ATPases - genetics | Taurochenodeoxycholic Acid - pharmacology | Heat-Shock Proteins - genetics | Gangliosidosis, GM1 - genetics | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Lysosomal Storage Diseases - drug therapy | Endoplasmic Reticulum - drug effects | Glutaredoxins - genetics | Nuclear Proteins - genetics | Methylamines - pharmacology | Lysosomal Storage Diseases, Nervous System - drug therapy | Neuronal Ceroid-Lipofuscinoses - drug therapy | Catalase - genetics | RNA, Messenger - genetics | Cells, Cultured | Molecular Chaperones - genetics | Oxidative Stress - genetics | Lysosomal Storage Diseases - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gangliosidosis, GM1 - pathology | Lysosomal Storage Diseases, Nervous System - metabolism | Genetic Markers | DNA-Binding Proteins - genetics | Lysosomal Storage Diseases, Nervous System - genetics | Regulatory Factor X Transcription Factors | Lysosomal Storage Diseases - pathology | Protein Folding | Lysosomal Storage Diseases - metabolism | Transcription Factors | Apoptosis - physiology
Journal Article