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Science, ISSN 0036-8075, 1/2003, Volume 299, Issue 5604, pp. 256 - 259
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2034 - 2038
We report an African infant with Ellis‐van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission.... 
EVC2 | hematological abnormalities | gene mutations | Ellis‐van Creveld syndrome | Dysplasia | Genetic analysis | Polydactyly
Journal Article
Practical Neurology, ISSN 1474-7758, 10/2017, Volume 17, Issue 5, pp. 412 - 416
Journal Article
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2019, Volume 9, pp. 625 - 625
Movement disorders of respiration are rare and are restricted to a phase of the respiratory cycle. The intermittent inspiratory myoclonus in this patient with... 
Index Medicus | Neurology | Diaphragmatic | Inspiratory | Myoclonus | Tremor | Tanzania | Hyperkinetic movements | Post-anoxis encephalopathy
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2011, Volume 6, Issue 2, pp. e16983 - e16983
textabstractMutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe... 
DISEASE | BIOLOGY | F-BOX PROTEINS | FUNCTIONAL DOMAINS | MUTATIONS | IDENTIFICATION | INHIBITOR | FAMILY | Neurons - pathology | Humans | Male | Neurons - cytology | Nerve Net - cytology | Brain - metabolism | Parkinsonian Disorders - metabolism | Cell Nucleus - metabolism | Protein Isoforms - metabolism | HEK293 Cells | Aged, 80 and over | Parkinsonian Disorders - genetics | Neurons - metabolism | Cell Line | Brain - cytology | F-Box Proteins - metabolism | Gene Expression Regulation | Nerve Net - pathology | Protein Transport | Animals | Parkinsonian Disorders - pathology | Intracellular Space - metabolism | Nerve Net - metabolism | Brain - pathology | Aged | Mice | Mutation | F-Box Proteins - genetics | Protein Isoforms - genetics | Proteins | Family | Nervous system diseases | Parkinson's disease | Cells | Neurophysiology | Cerebellum | Brain | Biotechnology | Transcription factors | Basal ganglia | Cerebral cortex | Pathogenesis | Substantia nigra | Amino acids | Kinases | Missense mutation | Neurodegeneration | Rodents | Cell cycle | Fibroblasts | Genetics | Levodopa | Localization | Profilin | Movement disorders | Dopamine receptors | Dopamine | Neurodegenerative diseases | Neurons | Cloning | Cortex | Globus pallidus | Central nervous system diseases | Patients | N-Terminus | Cell lines | Isoforms | Nuclei (cytology) | Skin | Immunoreactivity | Position (location) | Alzheimers disease | Apoptosis | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 3, pp. 629 - 634
Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive... 
Ubiquitin-Protein Ligases | Chromosomes, Human, Pair 1 | Pedigree | Humans | Ligases - genetics | Age of Onset | Molecular Sequence Data | Female | Male | Parkinsonian Disorders - genetics | Chromosome Mapping | Parkinsonism | Evaluation | Chromosome mapping | Genetic markers | Gene mutations | Analysis | Genetic aspects | Parkin gene | Index Medicus | Report
Journal Article
Case Reports in Neurological Medicine, ISSN 2090-6668, 2016, Volume 2016, pp. 8918954 - 4
Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not... 
Spina bifida | Embryonic development | Genetic disorders | Paralysis | Case Report
Journal Article
Clinical Case Reports, ISSN 2050-0904, 2017, Volume 5, Issue 2, pp. 134 - 138
To our knowledge, this is the first case report of juvenile dermatomyositis (JDM) in Tanzania. It demonstrates that the characteristic cutaneous findings of... 
calcinosis cutis | Africa | juvenile dermatomyositis | Tanzania | Edema | Enzymes | Alopecia | Tuberculosis | Baldness | Laboratories | Biopsy | Calcification | Electromyography | Patients | Children & youth
Journal Article
Psychoneuroendocrinology, ISSN 0306-4530, 11/2016, Volume 73, pp. 16 - 23
Diurnal salivary cortisol profiles are valuable indicators of adrenocortical functioning in epidemiological research and clinical practice. However, normative... 
Journal Article
Journal Article
Epilepsia Open, ISSN 2470-9239, 03/2018, Volume 3, Issue 1, pp. 66 - 72
Functional neurological disorders (FNDs) and psychogenic nonepileptic seizures (PNES) are likely as common in Sub-Saharan Africa (SSA) as in the rest of the... 
Psychogenic nonepileptic seizure | Functional neurological disorder | Epilepsy | Africa | Tanzania
Journal Article
European Journal of Epidemiology, ISSN 0393-2990, 1/2005, Volume 20, Issue 9, pp. 789 - 794
Journal Article