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Annals of Neurology|September 21, 2010
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)Michael C Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, et al.European Journal of Human Genetics : EJHG|August 10, 2018
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiencyLaura van Diepen, Falk F R Buettner, Dirk Hoffmann, et al.Brain : a Journal of Neurology|January 19, 2024
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapyLucia Abela, Lorita Gianfrancesco, Erica Tagliatti, et al.Molecular Genetics and Metabolism|October 23, 2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideSylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, et al.Annals of Clinical and Translational Neurology|August 26, 2023
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathyKevin A Strauss, Vincent J Carson, Emilienne Bolettieri, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutationsMirna Assoum, Matthew A Lines, Orly Elpeleg, et al.Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.Pageof 8