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Journal Article
Journal of Neuroscience, ISSN 0270-6474, 08/2006, Volume 26, Issue 31, pp. 8057 - 8068
Journal Article
Brain Pathology, ISSN 1015-6305, 09/2018, Volume 28, Issue 5, pp. 631 - 643
Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β‐oxidation... 
peroxisomes | multifunctional protein‐2 | Purkinje cell | β‐oxidation | ataxia | axonal swellings | β-oxidation | multifunctional protein-2 | NERVOUS-SYSTEM | C DISEASE | DEATH | AUTOPHAGY | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | beta-oxidation | MOUSE MODEL | MICE | MUTANT MOUSE | MUTATIONS | EXPRESSION | Neurodegenerative Diseases - pathology | Peroxisomal Multifunctional Protein-2 - deficiency | Peroxisomal Multifunctional Protein-2 - genetics | Astrocytes - pathology | Cerebellar Ataxia - etiology | Mice, Transgenic | Axons - physiology | Gliosis - physiopathology | Cerebellar Ataxia - pathology | Purkinje Cells - physiology | Gliosis - pathology | Cerebellar Ataxia - physiopathology | Astrocytes - physiology | Animals | Microglia - physiology | Neurodegenerative Diseases - physiopathology | Peroxisomal Disorders - pathology | Axons - pathology | Aging | Microglia - pathology | Peroxisomal Disorders - physiopathology | Purkinje Cells - pathology | Disease Models, Animal | Enzymes | Ataxia | Neurons | Analysis | Cerebellum | Brain | Gene deletion | Neuronal-glial interactions | Mimicry | Atrophy | Proteins | Mouse devices | Clonal deletion | Neurodegeneration | Purkinje cells | Deletion | Evolution | Oxidation | Degeneration | Phenotypes | Cerebellar ataxia | Protein deficiency | Patients | Axons | Peroxisomes | Mutation | Dystrophy
Journal Article
Journal of Comparative Pathology, ISSN 0021-9975, 05/2017, Volume 156, Issue 4, pp. 451 - 457
Journal Article
CNS Neuroscience & Therapeutics, ISSN 1755-5930, 01/2014, Volume 20, Issue 1, pp. 50 - 58
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, p. e0141824
Journal Article
neurogenetics, ISSN 1364-6745, 8/2018, Volume 19, Issue 3, pp. 179 - 187
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi... 
Human Genetics | Neurosciences | Mitochondria | Biomedicine | Axonal spheroids | Molecular Medicine | INAD- TFG | Endoplasmic reticulum | Phenotypes | Tropomyosin | INAD protein | Golgi apparatus | Hereditary spastic paraplegia | Paraplegia | Fibroblasts | Children | Membrane potential | Dystrophy | Spastic paraplegia
Journal Article
NEUROGENETICS, ISSN 1364-6745, 08/2018, Volume 19, Issue 3, pp. 179 - 187
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi... 
PLA2G6 MUTATIONS | HEREDITARY SPASTIC PARAPLEGIA | CLINICAL SPECTRUM | NEURODEGENERATION | DISORDERS | INAD-TFG | SENSORY NEUROPATHY | CLINICAL NEUROLOGY | HOMOZYGOSITY | Mitochondria | Axonal spheroids | PATHWAY | GENETICS & HEREDITY | TRK-FUSED GENE | ENDOPLASMIC-RETICULUM | Endoplasmic reticulum | Muscle proteins | Family | Resveratrol
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 3/2015, Volume 30, Issue 3, pp. 368 - 370
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding... 
infantile neuroaxonal dystrophy | axonal neuropathy | neonatal onset | atypical phenotype | cerebellar atrophy | PEDIATRICS | PLA2G6 | CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Neuroaxonal Dystrophies - diagnosis | Humans | Neuroaxonal Dystrophies - therapy | Infant | Male | Electroencephalography | Cerebellum - pathology
Journal Article
Journal of Neuroscience Methods, ISSN 0165-0270, 01/2019, Volume 312, pp. 154 - 161
Unbiased screening studies have repeatedly identified actin-related proteins as one of the families of proteins most influenced by neurotrauma. Nevertheless,... 
Traumatic brain injury | Dystrophy | Lattice light sheet microscopy | Human induced pluripotent stem cell derived neurons | Structured illumination microscopy | CELLS | TRANSPORT | ACTIN | MODELS | BIOCHEMICAL RESEARCH METHODS | NEUROSCIENCES | AXONAL INJURY
Journal Article
Journal Article
Autophagy, ISSN 1554-8627, 12/2011, Volume 7, Issue 12, pp. 1562 - 1563
Abnormally swollen regions of axons and dendrites (neurites) filled mainly with autophagy-related organelles represent the highly characteristic and widespread... 
axonal transport | lysosomes | autophagy | Alzheimer disease | dystrophic neurites | proteolysis | Binding | Proteins |