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index medicus (110) 110
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neuronal ceroid-lipofuscinoses - genetics (57) 57
neuronal ceroid-lipofuscinoses - epidemiology (49) 49
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neuronal ceroid-lipofuscinosis (33) 33
neuronal ceroid lipofuscinosis (32) 32
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neuronal ceroid-lipofuscinoses - pathology (27) 27
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neuronal ceroid-lipofuscinoses - physiopathology (20) 20
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diagnosis (18) 18
epidemiology (18) 18
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neurons (18) 18
genetics (17) 17
ncl (17) 17
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brain - pathology (15) 15
membrane proteins - genetics (15) 15
epilepsy (14) 14
genetic aspects (14) 14
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children (12) 12
dna mutational analysis (12) 12
neuronal ceroid-lipofuscinoses (12) 12
neuronal ceroid-lipofuscinoses - complications (12) 12
article (11) 11
gene (11) 11
neuronal ceroid lipofuscinoses (11) 11
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cell biology (10) 10
childhood (10) 10
cln3 (10) 10
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neuronal ceroid-lipofuscinoses - classification (10) 10
epilepsy - genetics (9) 9
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medicine, research & experimental (9) 9
mice (9) 9
palmitoyl-protein thioesterase (9) 9
research (9) 9
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cathepsin-d deficiency (8) 8
jansky-bielschowsky disease (8) 8
medicine & public health (8) 8
neuronal ceroid-lipofuscinoses - metabolism (8) 8
protein (8) 8
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electroencephalography (7) 7
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neurons - pathology (7) 7
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aminopeptidases (6) 6
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brain (6) 6
chromosome mapping (6) 6
dipeptidyl-peptidases and tripeptidyl-peptidases (6) 6
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The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 19 - 19
Background: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the... 
NCL Genes | Italy | Childhood NCL | Epidemiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLN1 GENE | WEST | BATTEN-DISEASE | PATIENT | MUTATIONS | Molecular Epidemiology | Humans | Female | Italy - epidemiology | Male | Child | Neuronal Ceroid-Lipofuscinoses - epidemiology | Cohort Studies | Index Medicus
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 10/2011, Volume 34, Issue 5, pp. 1083 - 1093
Journal Article
Journal Article
Journal Article