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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 2020, Volume 91, Issue 3, p. 263
Background: There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, a... 
Neurodegeneration
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 2020
Objectives: Alterations in dopamine neurotransmission underlie some of the clinical features of Huntington’s disease (HD) and as such are a target for... 
Neurodegeneration
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 2020
Objectives: Alterations in dopamine neurotransmission underlie some of the clinical features of Huntington’s disease (HD) and as such are a target for... 
Neurodegeneration
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. A21
BackgroundEarly dementia diagnosis is crucial to ensure timely treatment and support. Approximately 100,000 people in the UK are Deaf and use British Sign... 
Neurodegeneration
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 2017, Volume 154, pp. 34 - 42
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 2019
Background: Increased rates of brain atrophy on serial MRI are frequently used as a surrogate marker of disease progression in Alzheimer’s disease and other... 
Neurodegeneration
Journal Article
Nature, ISSN 0028-0836, 03/2019, Volume 567, Issue 7746, pp. 8 - 8
Journal Article
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 12/2013, Volume 13, Issue 12, pp. 1 - 5
Journal Article
2018
The cerebellar ataxias are a heterogeneous group of incurable disorders that are characterised by progressive dysfunction and degeneration of Purkinje cells.... 
neurodegeneration
Dissertation
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 6/2011, Volume 11, Issue 3, pp. 254 - 261
Journal Article
Nature, ISSN 0028-0836, 05/2018, Volume 557, Issue 7707, pp. S44 - S45
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 2012, Volume 105, Issue 3, pp. 463 - 471
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inborn error of metabolism characterized by iron accumulation in the basal ganglia and by... 
Metabolomics | Coenzyme A | Mitochondria | PKAN | Cholesterol | MANIFEST | MEDICINE, RESEARCH & EXPERIMENTAL | NEURODEGENERATION | MODEL | CHOLESTEROL-METABOLISM | PATHWAY | BIOSYNTHESIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | 24S-HYDROXYCHOLESTEROL | DYSFUNCTION | HUNTINGTONS-DISEASE | BRAIN | Coenzyme A - genetics | Mitochondria - enzymology | Pantothenate Kinase-Associated Neurodegeneration - metabolism | Lactic Acid - blood | Humans | Child, Preschool | Male | Neuroaxonal Dystrophies - enzymology | Iron Metabolism Disorders | Young Adult | Mitochondria - genetics | Adult | Female | Lipid Metabolism - genetics | Child | Neuroaxonal Dystrophies - diagnosis | Coenzyme A - deficiency | Lipid Metabolism Disorders - metabolism | Metabolome | Bile Acids and Salts - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Mitochondria - metabolism | Pantothenic Acid - blood | Codon, Nonsense | Mitochondria - pathology | Pantothenate Kinase-Associated Neurodegeneration - enzymology | Coenzyme A - biosynthesis | Pantothenate Kinase-Associated Neurodegeneration - genetics | Lipid Metabolism Disorders - genetics | Neuroaxonal Dystrophies - metabolism | Adolescent | Sphingomyelins - blood | Cohort Studies | Enzymes | Thiols | Bile acids | Physiological aspects | Dietary fat | Mitochondrial DNA | Genetic aspects | Deoxycholic acid | mass spectrometry | cholesterol | mitochondria | coenzyme A
Journal Article
Biological and Pharmaceutical Bulletin, ISSN 0918-6158, 2018, Volume 41, Issue 7, pp. 1006 - 1013
Metallothioneins (MTs) are small-molecular weight metal-binding proteins involved in the maintenance of tissue structure, efficient metal metabolism, and metal... 
Journal Article
PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 10, p. e0165872
[This corrects the article DOI: 10.1371/journal.pone.0131921.]. 
Neurodegeneration | Trauma
Journal Article
PloS one, ISSN 1932-6203, 2015, Volume 10, Issue 5, p. e0125580
BACKGROUND: Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis... 
MULTIDISCIPLINARY SCIENCES | CHOREA-ACANTHOCYTOSIS | ERYTHROCYTE-MEMBRANE CHANGES | CLEAVAGE | EXPRESSION | BLOOD-CELLS | FEATURES | Neuroacanthocytosis - pathology | Pantothenate Kinase-Associated Neurodegeneration - metabolism | Humans | Middle Aged | Male | Acanthocytes - metabolism | Case-Control Studies | Neuroacanthocytosis - metabolism | Pantothenate Kinase-Associated Neurodegeneration - physiopathology | Anion Exchange Protein 1, Erythrocyte - metabolism | Cell Shape | Adult | Female | Spectrin - genetics | Membrane Proteins - metabolism | Spectrin - metabolism | Child | Pantothenate Kinase-Associated Neurodegeneration - pathology | Gene Expression | Neuroacanthocytosis - physiopathology | Membrane Proteins - genetics | Erythrocyte Membrane - metabolism | Acanthocytes - pathology | Erythrocyte Membrane - pathology | Acanthocytes - ultrastructure | Homozygote | Pantothenate Kinase-Associated Neurodegeneration - genetics | Pedigree | Heterozygote | Aged | Erythrocyte Membrane - ultrastructure | Neuroacanthocytosis - genetics | Anion Exchange Protein 1, Erythrocyte - genetics | Osmotic Fragility | Erythrocyte Count | Nervous system diseases | Movement disorders | Basal ganglia | Chorea | Erythrocytes | Cytology | Biochemistry | Kinases | Blood | Cell morphology | Mimicry | Red blood cells | Neurodegeneration | Etiology | Physical characteristics | Life sciences | Degeneration | Qualitative analysis | Spleen | Neurodegenerative diseases | Deformation mechanisms | Blood cells | Functional analysis | Gene expression | Patients | Ganglia | Molecular modelling | Blood circulation | Morphology | Aberration | Apoptosis | Structure-function relationships
Journal Article
Autophagy, ISSN 1554-8635, 2015, Volume 11, Issue 6, pp. 881 - 890
Journal Article
Journal Article