المؤلفون: Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi‐Fakhari

المصدر: Movement disorders 37(12), 2440-2446 (2022). doi:10.1002/mds.29225
Mov Disord

مصطلحات موضوعية: Adult, cerebral palsy, Spastin, Adolescent, Spastic Paraplegia, Hereditary, childhood-onset movement disorders, Article, diagnosis [Spastic Paraplegia, Hereditary], Young Adult, Cross-Sectional Studies, Phenotype, Neurology, Muscle Spasticity, Child, Preschool, genetics [Spastic Paraplegia, Hereditary], Mutation, Humans, genetics [Spastin], SPAST, Neurology (clinical), ddc:610, hereditary spastic paraplegia, Child, neurogenetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb27dd83920485e0a4b88794a230e52cTest
https://pub.dzne.de/record/165247Test

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

المؤلفون: CureAP4 Foundation

المساهمون: Darius Ebrahimi-Fakhari, Director, Movement Disorders Program

المصدر: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04712812Test