X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (169) 169
humans (116) 116
male (91) 91
female (73) 73
animals (72) 72
neuroaxonal dystrophy (72) 72
neurosciences (68) 68
clinical neurology (64) 64
neuroaxonal dystrophies - genetics (56) 56
mutation (54) 54
neurodegeneration (47) 47
infantile neuroaxonal dystrophy (43) 43
neuroaxonal dystrophies - pathology (41) 41
brain - pathology (35) 35
pathology (34) 34
brain (32) 32
neurology (32) 32
disease (31) 31
genetic aspects (31) 31
iron (31) 31
adult (30) 30
child (30) 30
magnetic resonance imaging (27) 27
mice (27) 27
brain - metabolism (26) 26
iron metabolism disorders - genetics (26) 26
phospholipase a (26) 26
child, preschool (25) 25
group vi phospholipases a2 - genetics (25) 25
pediatrics (25) 25
genetics & heredity (24) 24
neuroaxonal dystrophies - metabolism (24) 24
article (23) 23
rats (22) 22
degeneration (20) 20
infant (20) 20
iron - metabolism (20) 20
analysis (19) 19
diagnosis (19) 19
mutations (19) 19
neuroaxonal dystrophies - physiopathology (19) 19
physiological aspects (19) 19
pla2g6 (19) 19
veterinary sciences (19) 19
genetics (18) 18
nervous system diseases (18) 18
neuroaxonal dystrophies - diagnosis (18) 18
pedigree (18) 18
adolescent (17) 17
kinase-associated neurodegeneration (17) 17
middle aged (17) 17
nbia (16) 16
neuroaxonal dystrophies (16) 16
research (16) 16
atrophy (15) 15
dystrophy (15) 15
mouse model (15) 15
neurodegeneration with brain iron accumulation (15) 15
phenotype (15) 15
young adult (15) 15
age (14) 14
ataxia (14) 14
brain iron accumulation (14) 14
disease models, animal (14) 14
dogs (14) 14
gene (14) 14
health aspects (14) 14
immunohistochemistry (14) 14
nervous system (14) 14
autonomic neuropathy (13) 13
axons - pathology (13) 13
basal ganglia (13) 13
gene mutations (13) 13
genes (13) 13
neurons (13) 13
oxidative stress (13) 13
carrier proteins - genetics (12) 12
children (12) 12
diabetes (12) 12
dystonia (12) 12
hallervorden-spatz-syndrome (12) 12
independent phospholipase a (12) 12
iron metabolism disorders - pathology (12) 12
medicine (12) 12
metabolism (12) 12
parkinson's disease (12) 12
parkinsonism (12) 12
rats, sprague-dawley (12) 12
biochemistry & molecular biology (11) 11
diabetes mellitus, experimental - physiopathology (11) 11
mutation - genetics (11) 11
neurodegenerative diseases - genetics (11) 11
aged (10) 10
alpha-synuclein (10) 10
horses (10) 10
microscopy, electron (10) 10
neurodegenerative diseases - pathology (10) 10
neurons - pathology (10) 10
phenotypic spectrum (10) 10
abridged index medicus (9) 9
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Veterinary Internal Medicine, ISSN 0891-6640, 09/2018, Volume 32, Issue 5, pp. 1740 - 1747
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2016, Volume 170, Issue 2, pp. 322 - 328
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a... 
autophagy | neurodegeneration with brain iron accumulation (NBIA) | susceptibility‐weighted imaging (SWI) | beta‐propeller protein‐associated neurodegeneration (BPAN) | static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) | developmental delay | WDR45 | neuron specific enolase (NSE) | intellectual disability | Intellectual disability | Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) | Neuron specific enolase (NSE) | Autophagy | Developmental delay | Neurodegeneration with brain iron accumulation (NBIA) | Beta-propeller protein-associated neurodegeneration (BPAN) | Susceptibility-weighted imaging (SWI) | beta-propeller protein-associated neurodegeneration (BPAN) | DISORDERS | susceptibility-weighted imaging (SWI) | GENETICS & HEREDITY | PATIENT | MUTATIONS | Neuroaxonal Dystrophies - diagnosis | Prognosis | Genes, X-Linked - genetics | Iron Metabolism Disorders - diagnosis | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Mutation - genetics | Neuroaxonal Dystrophies - blood | Neuroaxonal Dystrophies - genetics | Iron - metabolism | Carrier Proteins - genetics | Iron Metabolism Disorders - genetics | Phosphopyruvate Hydratase - blood | Female | High-Throughput Nucleotide Sequencing | Iron Metabolism Disorders - blood | DNA polymerases | Cerebral palsy | Brain | Aspartate | Neurons | Dementia | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2012, 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 | Index Medicus | mass spectrometry | cholesterol | mitochondria | coenzyme A
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 11/2016, Volume 21, Issue 11, pp. 1599 - 1607
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2016, Volume 33, Issue 1, p. 64
To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy. Clinical data of the patient... 
Brain - diagnostic imaging | Humans | Child, Preschool | Molecular Sequence Data | Male | Neuroaxonal Dystrophies - genetics | Radiography | Homozygote | Magnetic Resonance Imaging | DNA Mutational Analysis | Group VI Phospholipases A2 - genetics | Base Sequence | Adult | Female | Neuroaxonal Dystrophies - diagnostic imaging | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, pp. e0155605 - e0155605
Journal Article
Journal Article
Journal Article