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BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1807 - 1826
Journal Article
Scientific reports, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11878 - 16
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset neurological disease caused by mutations in SACS, which encodes... 
FORMS | DEFECTS | INHIBITION | CHARLEVOIX-SAGUENAY | MULTIDISCIPLINARY SCIENCES | DISEASE | COMMON | PROTEIN SACSIN | MUTATIONS | RECESSIVE SPASTIC ATAXIA | Oxidative stress | Immunomodulation | Genomes | Chaperones | Ribonucleic acid--RNA | Gene expression | Autophagy | Neuromodulation | Western blotting | Neurological diseases | Mitochondria | Neurodegeneration | Protein folding | Quality control | Ataxia | Phagocytosis | Age
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1801 - 1806
Journal Article
Molecular Biology Reports, ISSN 0301-4851, 10/2019, pp. 1 - 4
De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological... 
Lysosomes | Skin | Biopsy | Epilepsy
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 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
Journal Article
Cellular and Molecular Neurobiology, ISSN 0272-4340, 5/2017, Volume 37, Issue 4, pp. 665 - 682
Journal Article
Human mutation, ISSN 1059-7794, 2009, Volume 30, Issue 3, pp. E500 - E519
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 7, pp. 782 - 790
Journal Article
2011, ISBN 9780444518927, Volume 103
Mitochondria are subcellular organelles whose major function is to generate energy by coupling through oxidation of nutrient substrates with ATP synthesis, via... 
Book Chapter
NeuroMolecular Medicine, ISSN 1535-1084, 3/2016, Volume 18, Issue 1, pp. 109 - 133
Neuronal ceroid lipofuscinoses (NCL) are the most commonly inherited progressive encephalopathies of childhood. Pathologically, they are characterized by... 
Neurology | Neurosciences | Biomedicine | PPT1—palmitoyl-protein thioesterase 1 | Internal Medicine | Laser capture microdissection | LC-MS E , lysosomal storage disorders | MALDI-MSI | RNA sequence analysis | Classic infantile NCL | LC-MS | lysosomal storage disorders | IMAGING MASS-SPECTROMETRY | MYELIN PROTEINS | INFANTILE TYPE | PALMITOYL-PROTEIN THIOESTERASE | PPT1-palmitoyl-protein thioesterase 1 | LC-MSE, lysosomal storage disorders | NEUROSCIENCES | MOUSE MODEL | NEURONAL-CEROID-LIPOFUSCINOSIS | GENE-EXPRESSION | CATHEPSIN-D DEFICIENCY | ELECTROSPRAY-IONIZATION | Thalamus - metabolism | Thiolester Hydrolases - deficiency | Humans | Cerebral Cortex - pathology | Laser Capture Microdissection | Male | Gene Expression Profiling | Neuronal Ceroid-Lipofuscinoses - physiopathology | Thalamus - pathology | Cerebral Cortex - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Cerebral Cortex - physiopathology | Mitochondria | Neuronal Ceroid-Lipofuscinoses - genetics | Nerve Tissue Proteins - biosynthesis | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Disease Models, Animal | Fibroblasts - metabolism | Myelin Sheath - pathology | Cells, Cultured | Neuronal Ceroid-Lipofuscinoses - metabolism | Nerve Tissue Proteins - genetics | Disease Progression | Neurites - pathology | Animals | Thalamus - physiopathology | Proteomics | Mice | Thiolester Hydrolases - genetics | Models, Neurological | Immunohistochemistry | Brain | RNA | Ionization | Models | Mass spectrometry | Neurophysiology
Journal Article
Bioscience Reports, ISSN 0144-8463, 6/2007, Volume 27, Issue 1, pp. 23 - 30
The term “mitochondrial diseases” (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely... 
Biochemistry, general | Human Genetics | Biotechnology | Biomedicine | Neuropathology | Mitochondrial diseases | Muscle pathology | Biomedicine general | ENCEPHALOPATHY | mitochondrial diseases | muscle pathology | ENCEPHALOMYOPATHIES | STROKE-LIKE EPISODES | LACTIC-ACIDOSIS | MYOPATHY | MELAS | MUTATIONS | neuropathology | FEA