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Journal Article
Journal Article
BRAIN, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1267 - 1279
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2006, Volume 1762, Issue 10, pp. 857 - 864
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2008, Volume 16, Issue 8, pp. 961 - 969
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental... 
cerebellar ataxia | Marinesco-Sjogren syndrome | PROTEIN | subcellular localization | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | BIP | NEURODEGENERATION | SIL1 gene | MYOPATHY | mutation | CHAPERONES | DISEASES | COCHAPERONE | GENETICS & HEREDITY | NUCLEOTIDE EXCHANGE FACTOR | ENDOPLASMIC-RETICULUM | Neurons - pathology | Embryo, Mammalian | Humans | Middle Aged | Cercopithecus aethiops | Child, Preschool | Endoplasmic Reticulum - metabolism | Male | Mutation, Missense - genetics | Guanine Nucleotide Exchange Factors - metabolism | Adult | Female | Neurons - metabolism | Spinocerebellar Degenerations - metabolism | Guanine Nucleotide Exchange Factors - genetics | Mutagenesis, Site-Directed | Mice, Inbred C57BL | Hippocampus - cytology | Mutation - genetics | Spinocerebellar Degenerations - genetics | Hippocampus - metabolism | Animals | Pedigree | Spinocerebellar Degenerations - pathology | Fluorescent Antibody Technique | Golgi Apparatus - metabolism | Mice | Subcellular Fractions | COS Cells | Cataracts | Cerebellum | Neurosciences | Neurodegenerative diseases | Intellectual disabilities | Genomics | Genes | Cerebellar ataxia | GRP78 protein | Missense mutant | Sil1 protein | Golgi apparatus | Proteins | Hospitals | Neurodegeneration | Genetics | Ataxia | Mutation | Localization | Endoplasmic reticulum | Myopathy | Index Medicus
Journal Article
Journal of Neuroscience Research, ISSN 0360-4012, 06/2004, Volume 76, Issue 6, pp. 862 - 871
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2008, Volume 16, Issue 8, pp. 961 - 969
Marinesco-Sjoegren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental... 
Journal Article
Biochimica et biophysica acta, ISSN 0006-3002, 10/2006, Volume 1762, Issue 10, p. 857
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage... 
Genetic Predisposition to Disease | Animals | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Proteins - genetics | Humans | Mutation | Neuronal Ceroid-Lipofuscinoses - diagnosis | Neuronal Ceroid-Lipofuscinoses - classification | Neuronal Ceroid-Lipofuscinoses - pathology
Journal Article
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