Neurochemistry International, ISSN 0197-0186, 02/2016, Volume 93, pp. 6 - 25
mutations are to date the most common genetic risk factor for Parkinson's disease. The gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic...
α-Synuclein | Glucocerebrosidase | Gaucher disease | Parkinson's disease | LIMP-2 | Parkinson Disease - therapy | Glucosylceramidase - genetics | Parkinson Disease - pathology | Humans | Adult | Mutation | Parkinson Disease - genetics | Enzymes | Genetics | Health aspects | Aquaporins
α-Synuclein | Glucocerebrosidase | Gaucher disease | Parkinson's disease | LIMP-2 | Parkinson Disease - therapy | Glucosylceramidase - genetics | Parkinson Disease - pathology | Humans | Adult | Mutation | Parkinson Disease - genetics | Enzymes | Genetics | Health aspects | Aquaporins
Journal Article
Neurochemistry International, ISSN 0197-0186, 02/2016, Volume 93, pp. 6 - 25
GBA mutations are to date the most common genetic risk factor for Parkinson's disease. The GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst...
Glucocerebrosidase | Gaucher disease | Parkinson's disease | LIMP-2 | alpha-Synuclein | GBA MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | COGNITIVE IMPAIRMENT | NEUROSCIENCES | SLEEP BEHAVIOR DISORDER | MULTIPLE SYSTEM ATROPHY | MUTANT GLUCOCEREBROSIDASE VARIANTS | ACID BETA-GLUCOSIDASE | ENZYME REPLACEMENT THERAPY | PHARMACOLOGICAL CHAPERONE | TYPE-1 GAUCHER-DISEASE
Glucocerebrosidase | Gaucher disease | Parkinson's disease | LIMP-2 | alpha-Synuclein | GBA MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | COGNITIVE IMPAIRMENT | NEUROSCIENCES | SLEEP BEHAVIOR DISORDER | MULTIPLE SYSTEM ATROPHY | MUTANT GLUCOCEREBROSIDASE VARIANTS | ACID BETA-GLUCOSIDASE | ENZYME REPLACEMENT THERAPY | PHARMACOLOGICAL CHAPERONE | TYPE-1 GAUCHER-DISEASE
Journal Article
Pediatric Research, ISSN 0031-3998, 06/2018, Volume 83, Issue 6, pp. 1190 - 1199
BACKGROUND: General anesthetics could protect key neurotransmitter systems, such as the dopaminergic system, from hypoxic-ischemic encephalopathy (HIE) by...
ENCEPHALOPATHY | ACTIVATION | BRAIN-INJURY | DISEASE | SHEEP | GENERAL-ANESTHETICS | FETAL | PATHOLOGY | PRETERM | PERINATAL ASPHYXIA | PEDIATRICS | Hypoxia | Phosphorylation
ENCEPHALOPATHY | ACTIVATION | BRAIN-INJURY | DISEASE | SHEEP | GENERAL-ANESTHETICS | FETAL | PATHOLOGY | PRETERM | PERINATAL ASPHYXIA | PEDIATRICS | Hypoxia | Phosphorylation
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“Benign” GBA variants may alter gene splicing in South African Parkinson's disease cases
Parkinsonism and Related Disorders, ISSN 1353-8020, 2015, Volume 22, pp. e172 - e172
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"Benign" GBA variants may alter gene splicing in South African Parkinson's disease cases
Parkinsonism and Related Disorders, ISSN 1353-8020, 01/2016, Volume 22, p. e172
Journal Article
DIAGNOSTICS, ISSN 2075-4418, 09/2019, Volume 9, Issue 3, p. 123
Somatosensory evoked potentials (SSEPs) are a valuable tool to assess functional integrity of the somatosensory pathways and for the prediction of sensorimotor...
BEHAVIORAL CONSEQUENCES | MEDICINE, GENERAL & INTERNAL | hypoxia-ischemia | rat model | ASPHYXIA | preterm brain | cerebral palsy | INJURY | somatosensory evoked potential | SPINAL-CORD | DEFICITS | CHILDREN
BEHAVIORAL CONSEQUENCES | MEDICINE, GENERAL & INTERNAL | hypoxia-ischemia | rat model | ASPHYXIA | preterm brain | cerebral palsy | INJURY | somatosensory evoked potential | SPINAL-CORD | DEFICITS | CHILDREN
Journal Article
Behavioural Brain Research, ISSN 0166-4328, 04/2019, Volume 362, pp. 77 - 81
There is an urgent need for therapies that could reduce the disease burden of preterm hypoxic-ischemic encephalopathy. Here, we evaluate the long-term effects...
Neurodevelopment | Stem cell therapy | Preterm brain | Hypoxic-ischemic encephalopathy | EFFICACY | BRAIN-INJURY | SAFETY | MATURATION | MESENCHYMAL STEM-CELLS | PERINATAL ASPHYXIA | BORN | INFANTS | DOUBLE-BLIND | NEURONS | NEUROSCIENCES | BEHAVIORAL SCIENCES | Neurosciences | Transplantation | Encephalopathy | Analysis | Stem cells
Neurodevelopment | Stem cell therapy | Preterm brain | Hypoxic-ischemic encephalopathy | EFFICACY | BRAIN-INJURY | SAFETY | MATURATION | MESENCHYMAL STEM-CELLS | PERINATAL ASPHYXIA | BORN | INFANTS | DOUBLE-BLIND | NEURONS | NEUROSCIENCES | BEHAVIORAL SCIENCES | Neurosciences | Transplantation | Encephalopathy | Analysis | Stem cells
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A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease
Molecular genetics & genomic medicine, ISSN 2324-9269, 03/2017, Volume 5, Issue 2, pp. 147 - 156
Background The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most...
modeling | Parkinson's disease | VARIANTS | RISK | MECHANISMS | IDENTIFICATION | glucocerebrosidase | GAUCHER-DISEASE | GLUCOCEREBROSIDASE GENE | genetic screening | Gaucher disease | Afrikaner | COHORT | MUTATIONS | ONSET | GENETICS & HEREDITY | Enzyme activity | Neurodegenerative diseases | Genes | Parkinsons disease | Health risks | Leukocytes | Risk analysis | Disease control | Risk factors | Proteins | Studies | Enzymatic activity | Population | Glucosylceramidase | Mutation | Age | Movement disorders | Predictive control | Gaucher's disease
modeling | Parkinson's disease | VARIANTS | RISK | MECHANISMS | IDENTIFICATION | glucocerebrosidase | GAUCHER-DISEASE | GLUCOCEREBROSIDASE GENE | genetic screening | Gaucher disease | Afrikaner | COHORT | MUTATIONS | ONSET | GENETICS & HEREDITY | Enzyme activity | Neurodegenerative diseases | Genes | Parkinsons disease | Health risks | Leukocytes | Risk analysis | Disease control | Risk factors | Proteins | Studies | Enzymatic activity | Population | Glucosylceramidase | Mutation | Age | Movement disorders | Predictive control | Gaucher's disease
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 10/2018, Volume 55, pp. 55 - 60
The age of diagnosis of Huntington's disease (HD) varies among individuals with the same CAG-repeat expansion size. We investigated whether early-life events,...
Developmental disorders | Neonatal | Huntington's disease | Epidemiological | Modifier | PREVALENCE | OUTCOMES | ASSOCIATION | TRENDS | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Epidemiology | Analysis
Developmental disorders | Neonatal | Huntington's disease | Epidemiological | Modifier | PREVALENCE | OUTCOMES | ASSOCIATION | TRENDS | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Epidemiology | Analysis
Journal Article
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A molecular analysis of theGBAgene in Caucasian South Africans with Parkinson's disease
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2017, Volume 5, Issue 2, pp. 147 - 156
Journal Article
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 153 - 157
Journal Article
Behavioural brain research, 04/2019, Volume 362, p. 77
There is an urgent need for therapies that could reduce the disease burden of preterm hypoxic-ischemic encephalopathy. Here, we evaluate the long-term effects...
Animals, Newborn | Asphyxia Neonatorum - physiopathology | Hypoxia - drug therapy | Animals | Multipotent Stem Cells - cytology | Brain - physiopathology | Female | Male | Rats, Sprague-Dawley | Disease Models, Animal | Hypoxia-Ischemia, Brain - physiopathology
Animals, Newborn | Asphyxia Neonatorum - physiopathology | Hypoxia - drug therapy | Animals | Multipotent Stem Cells - cytology | Brain - physiopathology | Female | Male | Rats, Sprague-Dawley | Disease Models, Animal | Hypoxia-Ischemia, Brain - physiopathology
Journal Article
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