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Human Gene Therapy|April 23, 2014
Cell and gene therapy for Friedreich ataxia: progress to dateMarguerite V Evans-Galea, Alice Pébay, Mirella Dottori, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2004
Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonismPaul J Lockhart, Rebecca Bounds, Mary Hulihan, et al.
Anesthesiology|July 24, 2019
Genetic Analysis of Patients Who Experienced Awareness with Recall while under General AnesthesiaJamie W Sleigh, Kate Leslie, Andrew J Davidson, et al.
Human Molecular Genetics|January 29, 2010
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouseGabrielle R Wilson, Hong X Wang, Gary F Egan, et al.
Neurobiology of Disease|September 5, 2024
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firingJames Spyrou, Khaing Phyu Aung, Hannah Vanyai, et al.
Gene|June 1, 2002
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3Paul J Lockhart, Benjamin Holtom, Sarah Lincoln, et al.
Neurobiology of Disease|June 26, 2007
Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseasesJuliet M Taylor, Yun Ju C Song, Yue Huang, et al.
Neurology|April 4, 2023
Pathogenic <i>RHEB</i> Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in <i>TSC1</i> or <i>TSC2</i>Wei Shern Lee, Emma Macdonald-Laurs, Sarah Stephenson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 15, 2020
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing DataHaloom Rafehi, David J Szmulewicz, Kate Pope, et al.
Stem Cell Research|June 5, 2026
Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patientsSeppe Van der Auweraer, Moritz B Roth, Katerina Vlahos, et al.
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