The genetics of cerebellar malformations.
The genetics of cerebellar malformations.
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DOI：
10.1016/j.siny.2016.04.008
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发表时间：
2016-10
影响因子：
3
通讯作者：
Doherty, Dan
中科院分区：
文献类型：
--
作者：
Aldinger, Kimberly A.;Doherty, Dan
小脑在运动协调中的作用早已被认识到，但它在复杂的认知行为中的作用也越来越受到重视。从历史上看，与人类和模式生物的新皮层相比，小脑的研究一直非常不足。然而，随着神经影像学、神经病理学和神经遗传学的进步，这一趋势正在发生变化，导致许多发育障碍的临床分类和基因鉴定，这些发育障碍影响与显著的整体神经发育功能障碍相关的小脑结构和功能。鉴于广泛的预后和相关的医疗和神经发育问题伴随小脑畸形，这些疾病及其原因的工作知识是至关重要的产科医生，围产期医生和产科医生。在这里，我们提出了一个更新的遗传原因小脑畸形，可以识别的神经影像学和临床特征，在产前和产后期间。
The cerebellum has long been recognized for its role in motor co-ordination, but it is also increasingly appreciated for its role in complex cognitive behavior. Historically, the cerebellum has been overwhelmingly understudied compared to the neocortex in both humans and model organisms. However, this tide is changing as advances in neuroimaging, neuropathology, and neurogenetics have led to clinical classification and gene identification for numerous developmental disorders that impact cerebellar structure and function associated with significant overall neurodevelopmental dysfunction. Given the broad range in prognosis and associated medical and neurodevelopmental concerns accompanying cerebellar malformations, a working knowledge of these disorders and their causes is critical for obstetricians, perinatologists, and neonatologists. Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods.
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影响因子：
30.8
作者：
Aldinger, Kimberly A.;Lehmann, Ordan J.;Hudgins, Louanne;Chizhikov, Victor V.;Bassuk, Alexander G.;Ades, Lesley C.;Krantz, Ian D.;Dobyns, William B.;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.
影响因子：
64.5
作者：
Karaca E;Weitzer S;Pehlivan D;Shiraishi H;Gogakos T;Hanada T;Jhangiani SN;Wiszniewski W;Withers M;Campbell IM;Erdin S;Isikay S;Franco LM;Gonzaga-Jauregui C;Gambin T;Gelowani V;Hunter JV;Yesil G;Koparir E;Yilmaz S;Brown M;Briskin D;Hafner M;Morozov P;Farazi TA;Bernreuther C;Glatzel M;Trattnig S;Friske J;Kronnerwetter C;Bainbridge MN;Gezdirici A;Seven M;Muzny DM;Boerwinkle E;Ozen M;Baylor Hopkins Center for Mendelian Genomics;Clausen T;Tuschl T;Yuksel A;Hess A;Gibbs RA;Martinez J;Penninger JM;Lupski JR
通讯作者：
Lupski JR
影响因子：
2.8
作者：
Demaerel, P
通讯作者：
Demaerel, P
影响因子：
9.8
作者：
Edvardson, Simon;Shaag, Avraham;Elpeleg, Orly
通讯作者：
Elpeleg, Orly
影响因子：
9.8
作者：
Aldinger, Kimberly A.;Mosca, Stephen J.;Doherty, Dan
通讯作者：
Doherty, Dan