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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

2021The American Journal of Human Genetics20 citationsDOIOpen Access PDF

Topics & Concepts

Hereditary spastic paraplegiaSpasticityBiologySpasticNeuroscienceCorpus callosumWhite matterPhenotypeAlleleGeneticsGeneInternal medicineMedicinePhysical medicine and rehabilitationMagnetic resonance imagingCerebral palsyRadiologyHereditary Neurological DisordersLysosomal Storage Disorders ResearchAutophagy in Disease and Therapy
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies | Litcius