Ausgabe 3/2020
Inhalt (8 Artikel)
Familial analysis reveals rare risk variants for migraine in regulatory regions
Tanya Ramdal Techlo, Andreas Høiberg Rasmussen, Peter L. Møller, Morten Bøttcher, Simon Winther, Olafur B. Davidsson, Isa A. Olofsson, Mona Ameri Chalmer, Lisette J. A. Kogelman, Mette Nyegaard, Jes Olesen, Thomas Folkmann Hansen
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients
Azza Abdel Gawad Tantawy, Amira Abdel Moneam Adly, Mai Seif El Din Abdeen, Nouran Yousef Salah
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1
Jianda Wang, Yanqi Hou, Lina Qi, Shuang Zhai, Liangwu Zheng, Lin Han, Yufan Guo, Bijun Zhang, Pu Miao, Yuting Lou, Xiaoxiao Xu, Ye Wang, Yanqi Ren, Zhenhua Cao, Jianhua Feng
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder
Pınar Gelener, Mariasavina Severino, Sevda Diker, Kerem Teralı, Gulten Tuncel, Hatice Tuzlalı, Elena Manara, Stefano Paolacci, Matteo Bertelli, Mahmut Cerkez Ergoren
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease
Jana Key, Antonia Maletzko, Aneesha Kohli, Suzana Gispert, Sylvia Torres-Odio, Ilka Wittig, Juliana Heidler, Clea Bárcena, Carlos López-Otín, Yuanjiu Lei, A. Phillip West, Christian Münch, Georg Auburger
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain
Roel R. I. van Reij, Jan Willem Voncken, Elbert A. J. Joosten, Nynke J. van den Hoogen
Rare copy number variations of planar cell polarity genes are associated with human neural tube defects
Tian Tian, Yunping Lei, Yongyan Chen, Yinnan Guo, Lei Jin, Richard H. Finnell, Linlin Wang, Aiguo Ren
Oligogenicity, C9orf72 expansion, and variant severity in ALS
Jay P. Ross, Claire S. Leblond, Sandra B. Laurent, Dan Spiegelman, Alexandre Dionne-Laporte, William Camu, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau