COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification-Reference-Cited by-同舟云学术

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

Published:2011-12 Issue:06 Volume:42 Page:227-233
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Livingston J.¹,Doherty D.²,Orcesi S.³,Tonduti D.³,Piechiecchio A.³,La Piana R.⁴,Tournier-Lasserve E.⁵,Majumdar A.⁶,Tomkins S.⁷,Rice G.⁸,Kneen R.⁹,van der Knaap M.¹⁰,Crow Y.¹¹

Affiliation:

1. Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK

2. Divisions of Developmental Medicine and Genetic Medicine, University of Washington Seattle Childrens Hospital, Seattle, Washington, USA

3. Unit of Child Neurology and Psychiatry, IRCCS “C. Mondino Institute of Neurology” Foundation, Pavia, Italy

4. Department of Neuroradiology, Montreal Neurological Institute, Montreal, CanadaM

5. Laboratoire de Genetique

6. Department of Paediatric Neurology, Bristol Children’s Hospital, Bristol, UK

7. Department of Clinical Genetics, Bristol, UK

8. Department of Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, University of Manchester, Manchester, UK

9. Neuroscience Unit, Alder Hey Childrens NHS Foundation Trust, Littlewood, Liverpool, UK

10. Department of Child Neurology VU University Medical Center, Amsterdam, The Netherlands

11. Department of Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0031-1295493.pdf

Cited by 43 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. Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis;Cells & Development;2024-09

2. COL4A1 Gene Mutation Masquerading as Cerebral Palsy: Report of a Rare Case;Cureus;2024-08-20

3. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

4. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome;Brain;2024-01-13

5. Brain Calcifications: Genetic, Molecular, and Clinical Aspects;International Journal of Molecular Sciences;2023-05-19