ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
Gabrielle Lemire, Yoko Itō, Aren E. Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark A. Tarnopolsky, Cynthia J. Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T. Hutchison, Lynn Pais, Maha S. Zaki, Tipu Sultan, Adrie Dane, Joseph G. Gleeson, Frédéric M. Vaz, Kristin D. Kernohan, Geneviève Bernard, Kym M. Boycott
Topics & Concepts
Hereditary spastic paraplegiaSpasticityBiologySpasticNeuroscienceCorpus callosumWhite matterPhenotypeAlleleGeneticsGeneInternal medicineMedicinePhysical medicine and rehabilitationMagnetic resonance imagingCerebral palsyRadiologyHereditary Neurological DisordersLysosomal Storage Disorders ResearchAutophagy in Disease and Therapy