Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Friedreichs_ataxia> ?p ?o }
- Friedreichs_ataxia abstract "Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.The particular genetic mutation (expansion of an intronic GAA triplet repeat in the FXN gene) leads to reduced expression of the mitochondrial protein frataxin. Over time this deficiency causes the aforementioned damage, as well as frequent fatigue due to effects on cellular metabolism.The ataxia of Friedreich's ataxia results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insulating covering on some nerve cells that helps conduct nerve impulses).The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.".
- Friedreichs_ataxia icd10 "G11.1".
- Friedreichs_ataxia icd9 "334.0".
- Friedreichs_ataxia meshId "D005621".
- Friedreichs_ataxia omim "229300".
- Friedreichs_ataxia thumbnail Protein_FXN_PDB_1ekg.png?width=300.
- Friedreichs_ataxia wikiPageExternalLink index.html.
- Friedreichs_ataxia wikiPageExternalLink www.bcataxia.org.
- Friedreichs_ataxia wikiPageExternalLink www.e-facts.eu.
- Friedreichs_ataxia wikiPageExternalLink index.php?option=com_frontpage&Itemid=1&lang=english.
- Friedreichs_ataxia wikiPageExternalLink responses.cfm?id=92.
- Friedreichs_ataxia wikiPageExternalLink bv.fcgi?rid=gnd.section.205.
- Friedreichs_ataxia wikiPageID "1602117".
- Friedreichs_ataxia wikiPageLength "20913".
- Friedreichs_ataxia wikiPageOutDegree "113".
- Friedreichs_ataxia wikiPageRevisionID "678816968".
- Friedreichs_ataxia wikiPageWikiLink ACE_inhibitor.
- Friedreichs_ataxia wikiPageWikiLink Aconitase.
- Friedreichs_ataxia wikiPageWikiLink Action_potential.
- Friedreichs_ataxia wikiPageWikiLink Activities_of_daily_living.
- Friedreichs_ataxia wikiPageWikiLink Assistive_technology.
- Friedreichs_ataxia wikiPageWikiLink Ataxia.
- Friedreichs_ataxia wikiPageWikiLink Atrial_fibrillation.
- Friedreichs_ataxia wikiPageWikiLink Autosomal_recessive.
- Friedreichs_ataxia wikiPageWikiLink Betz_cell.
- Friedreichs_ataxia wikiPageWikiLink BioMarin_Pharmaceutical.
- Friedreichs_ataxia wikiPageWikiLink Cardiomegaly.
- Friedreichs_ataxia wikiPageWikiLink Cardiomyopathy.
- Friedreichs_ataxia wikiPageWikiLink Cardiovascular_disease.
- Friedreichs_ataxia wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Friedreichs_ataxia wikiPageWikiLink Category:Mitochondrial_diseases.
- Friedreichs_ataxia wikiPageWikiLink Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Friedreichs_ataxia wikiPageWikiLink Category:Trinucleotide_repeat_disorders.
- Friedreichs_ataxia wikiPageWikiLink Cerebellar.
- Friedreichs_ataxia wikiPageWikiLink Cerebellum.
- Friedreichs_ataxia wikiPageWikiLink Corticospinal_tract.
- Friedreichs_ataxia wikiPageWikiLink Cuneate_nucleus.
- Friedreichs_ataxia wikiPageWikiLink Degeneration.
- Friedreichs_ataxia wikiPageWikiLink Degeneration_theory.
- Friedreichs_ataxia wikiPageWikiLink Dentate_nucleus.
- Friedreichs_ataxia wikiPageWikiLink Dentato-olivary_tract.
- Friedreichs_ataxia wikiPageWikiLink Diabetes.
- Friedreichs_ataxia wikiPageWikiLink Diabetes_mellitus.
- Friedreichs_ataxia wikiPageWikiLink Digoxin.
- Friedreichs_ataxia wikiPageWikiLink Dominance_(genetics).
- Friedreichs_ataxia wikiPageWikiLink Dorsal_column.
- Friedreichs_ataxia wikiPageWikiLink Dorsal_root_ganglion.
- Friedreichs_ataxia wikiPageWikiLink Dorsal_spinocerebellar_fiber.
- Friedreichs_ataxia wikiPageWikiLink Dysarthria.
- Friedreichs_ataxia wikiPageWikiLink Dysmetria.
- Friedreichs_ataxia wikiPageWikiLink File:Autorecessive.svg.
- Friedreichs_ataxia wikiPageWikiLink Food_and_Drug_Administration.
- Friedreichs_ataxia wikiPageWikiLink Frataxin.
- Friedreichs_ataxia wikiPageWikiLink French-Canadian.
- Friedreichs_ataxia wikiPageWikiLink French_Canadian.
- Friedreichs_ataxia wikiPageWikiLink Gait.
- Friedreichs_ataxia wikiPageWikiLink Gait_abnormality.
- Friedreichs_ataxia wikiPageWikiLink Gait_disturbance.
- Friedreichs_ataxia wikiPageWikiLink Gamma-Aminobutyric_acid.
- Friedreichs_ataxia wikiPageWikiLink Gamma-aminobutyric_acid.
- Friedreichs_ataxia wikiPageWikiLink Gene_silencing.
- Friedreichs_ataxia wikiPageWikiLink Genetic_disorder.
- Friedreichs_ataxia wikiPageWikiLink Germany.
- Friedreichs_ataxia wikiPageWikiLink Gracile_nucleus.
- Friedreichs_ataxia wikiPageWikiLink Hearing_impairment.
- Friedreichs_ataxia wikiPageWikiLink Hearing_loss.
- Friedreichs_ataxia wikiPageWikiLink Heart_disease.
- Friedreichs_ataxia wikiPageWikiLink Heart_murmur.
- Friedreichs_ataxia wikiPageWikiLink Heart_murmurs.
- Friedreichs_ataxia wikiPageWikiLink Heidelberg_University.
- Friedreichs_ataxia wikiPageWikiLink Heterochromatin.
- Friedreichs_ataxia wikiPageWikiLink Histone_deacetylase_inhibitor.
- Friedreichs_ataxia wikiPageWikiLink Horizon_Pharma.
- Friedreichs_ataxia wikiPageWikiLink Hypertrophic_cardiomyopathy.
- Friedreichs_ataxia wikiPageWikiLink Hypertrophy.
- Friedreichs_ataxia wikiPageWikiLink Idebenone.
- Friedreichs_ataxia wikiPageWikiLink Inherited_disease.
- Friedreichs_ataxia wikiPageWikiLink Interferon_gamma.
- Friedreichs_ataxia wikiPageWikiLink Intron.
- Friedreichs_ataxia wikiPageWikiLink Intronic.
- Friedreichs_ataxia wikiPageWikiLink Iron-sulfur_protein.
- Friedreichs_ataxia wikiPageWikiLink Jean_Guyon.
- Friedreichs_ataxia wikiPageWikiLink Kristen_Stewart.
- Friedreichs_ataxia wikiPageWikiLink Lateral_corticospinal_tract.
- Friedreichs_ataxia wikiPageWikiLink Lower_motor_neuron.
- Friedreichs_ataxia wikiPageWikiLink Medullary_pyramids_(brainstem).
- Friedreichs_ataxia wikiPageWikiLink Metabolism.
- Friedreichs_ataxia wikiPageWikiLink Mitochondrial.
- Friedreichs_ataxia wikiPageWikiLink Mitochondrion.
- Friedreichs_ataxia wikiPageWikiLink Muscular_Dystrophy_Association.
- Friedreichs_ataxia wikiPageWikiLink Myelin.
- Friedreichs_ataxia wikiPageWikiLink Myelin_sheath.
- Friedreichs_ataxia wikiPageWikiLink National_Center_for_Biotechnology_Information.
- Friedreichs_ataxia wikiPageWikiLink Nerve_impulses.
- Friedreichs_ataxia wikiPageWikiLink Nervous_system.
- Friedreichs_ataxia wikiPageWikiLink Nervous_tissue.
- Friedreichs_ataxia wikiPageWikiLink New_France.
- Friedreichs_ataxia wikiPageWikiLink Nikolaus_Friedreich.
- Friedreichs_ataxia wikiPageWikiLink Nystagmus.
- Friedreichs_ataxia wikiPageWikiLink Occupational_therapist.