المؤلفون: Alexander Münchau, Darius Ebrahimi-Fakhari, Clara D.M. van Karnebeek

المصدر: Movement disorders. 34(5):598-613

مصطلحات موضوعية: 0301 basic medicine, Myoclonus, Movement disorders, Monosaccharide Transport Proteins, Creatine metabolism, Energy metabolism, Neurogenetics, Lysosomal storage disorders, inborn errors of metabolism, Folic Acid Deficiency, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, Hepatolenticular Degeneration, Metabolic Diseases, Parkinsonian Disorders, Chorea, medicine, Humans, Vitamin E Deficiency, neurogenetics, Amino Acid Metabolism, Inborn Errors, Glutaryl-CoA Dehydrogenase, treatment, business.industry, Brain Diseases, Metabolic, Niemann-Pick Disease, Type C, Xanthomatosis, Cerebrotendinous, Organic acid metabolism, Dystonia, 030104 developmental biology, neurotransmitter disorders, Neurology, Dystonic Disorders, Muscle Spasticity, movement disorders, Ataxia, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neurological problems, Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b754687af007f4d5793cef8404f02c82Test
https://doi.org/10.1002/mds.27568Test

المؤلفون: Boston Children's Hospital - Children's Rare Disease Cohorts Initiative

المساهمون: Darius Ebrahimi-Fakhari, Principal Investigator

المصدر: Investigating the Genetic Basis of Hereditary Spastic Paraplegia

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT05354622Test