Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders.

Autor: Algodon SM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Fischer T; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Rosales R; The Research Center for Health Sciences - Faculty of Medicine & Surgery and the Hospital Neuroscience Institute, University of Santo Tomas, Manila, Philippines., Jamora RD; Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Diesta CC; Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati, Philippines., Saranza G; Section of Neurology, Department of Internal Medicine, Chong Hua Hospital, Cebu, Philippines., Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Oct; Vol. 37 (10), pp. 2168-2169. Date of Electronic Publication: 2022 Aug 19.
DOI: 10.1002/mds.29191
Databáze: MEDLINE