Genetic basis of Joubert syndrome and related disorders of cerebellar development
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/14/suppl_2/R235/1908406/ddi264.pdf
Reference121 articles.
1. Maria, B.L., Hoang, K.B., Tusa, R.J., Mancuso, A.A., Hamed, L.M., Quisling, R.G., Hove, M.T., Fennell, E.B., Booth-Jones, M., Ringdahl, D.M. et al. (1997) ‘Joubert syndrome’ revisited: key ocular motor signs with magnetic resonance imaging correlation. J. Child Neurol., 12, 423–430.
2. Joubert, M., Eisenring, J.J., Robb, J.P. and Andermann, F. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 19, 813–825.
3. Boltshauser, E. and Isler, W. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie, 8, 57–66.
4. Maria, B.L., Boltshauser, E., Palmer, S.C. and Tran, T.X. (1999) Clinical features and revised diagnostic criteria in Joubert syndrome. J. Child Neurol., 14, 583–590; discussion 590–591.
5. Holroyd, S., Reiss, A.L. and Bryan, R.N. (1991) Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Biol. Psychiatry, 29, 287–294.
Cited by 80 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Prenatal Diagnosis of Poretti-Boltshauser Syndrome – a Case Report of a Molar Tooth Sign Mimic;The Cerebellum;2024-08-12
2. Forward genetic screen of the C. elegans million mutation library reveals essential, cell‐autonomous contributions of BBSome proteins to dopamine signaling;Journal of Neurochemistry;2024-08-08
3. Neuroanatomy of autism: what is the role of the cerebellum?;Cerebral Cortex;2024-05-01
4. The role of WD40 repeat-containing proteins in endocrine (dys)function;Journal of Molecular Endocrinology;2023-05-31
5. Developmental Disorders of the Cerebellum and Neurotrophic Factors;Contemporary Clinical Neuroscience;2023
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3