Works matching IS 13646745 AND DT 2020 AND VI 21 AND IP 3

Results: 8

Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 205, doi. 10.1007/s10048-020-00614-5

By:

van Reij, Roel R. I.;
Voncken, Jan Willem;
Joosten, Elbert A. J.;
van den Hoogen, Nynke J.

Publication type:

Article

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 169, doi. 10.1007/s10048-020-00608-3

By:

Wang, Jianda;
Hou, Yanqi;
Qi, Lina;
Zhai, Shuang;
Zheng, Liangwu;
Han, Lin;
Guo, Yufan;
Zhang, Bijun;
Miao, Pu;
Lou, Yuting;
Xu, Xiaoxiao;
Wang, Ye;
Ren, Yanqi;
Cao, Zhenhua;
Feng, Jianhua

Publication type:

Article

Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 217, doi. 10.1007/s10048-020-00613-6

By:

Tian, Tian;
Lei, Yunping;
Chen, Yongyan;
Guo, Yinnan;
Jin, Lei;
Finnell, Richard H.;
Wang, Linlin;
Ren, Aiguo

Publication type:

Article

Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 159, doi. 10.1007/s10048-020-00607-4

By:

Tantawy, Azza Abdel Gawad;
Adly, Amira Abdel Moneam;
Abdeen, Mai Seif El Din;
Salah, Nouran Yousef

Publication type:

Article

Oligogenicity, C9orf72 expansion, and variant severity in ALS.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 227, doi. 10.1007/s10048-020-00612-7

By:

Ross, Jay P.;
Leblond, Claire S.;
Laurent, Sandra B.;
Spiegelman, Dan;
Dionne-Laporte, Alexandre;
Camu, William;
Dupré, Nicolas;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 179, doi. 10.1007/s10048-020-00610-9

By:

Gelener, Pınar;
Severino, Mariasavina;
Diker, Sevda;
Teralı, Kerem;
Tuncel, Gulten;
Tuzlalı, Hatice;
Manara, Elena;
Paolacci, Stefano;
Bertelli, Matteo;
Ergoren, Mahmut Cerkez

Publication type:

Article

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 187, doi. 10.1007/s10048-020-00609-2

By:

Key, Jana;
Maletzko, Antonia;
Kohli, Aneesha;
Gispert, Suzana;
Torres-Odio, Sylvia;
Wittig, Ilka;
Heidler, Juliana;
Bárcena, Clea;
López-Otín, Carlos;
Lei, Yuanjiu;
West, A. Phillip;
Münch, Christian;
Auburger, Georg

Publication type:

Article

Familial analysis reveals rare risk variants for migraine in regulatory regions.

Published in:

Neurogenetics, 2020, v. 21, n. 3, p. 149, doi. 10.1007/s10048-020-00606-5

By:

Techlo, Tanya Ramdal;
Rasmussen, Andreas Høiberg;
Møller, Peter L.;
Bøttcher, Morten;
Winther, Simon;
Davidsson, Olafur B.;
Olofsson, Isa A.;
Chalmer, Mona Ameri;
Kogelman, Lisette J. A.;
Nyegaard, Mette;
Olesen, Jes;
Hansen, Thomas Folkmann

Publication type:

Article