De novopoint mutations in patients diagnosed with ataxic cerebral palsy-Reference-Cited by-同舟云学术

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

Published:2015-05-16 Issue:7 Volume:138 Page:1817-1832
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Parolin Schnekenberg Ricardo,Perkins Emma M.,Miller Jack W.,Davies Wayne I. L.,D’Adamo Maria Cristina,Pessia Mauro,Fawcett Katherine A.,Sims David,Gillard Elodie,Hudspith Karl,Skehel Paul,Williams Jonathan,O’Regan Mary,Jayawant Sandeep,Jefferson Rosalind,Hughes Sarah,Lustenberger Andrea,Ragoussis Jiannis,Jackson Mandy,Tucker Stephen J.,Németh Andrea H.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/138/7/1817/13800053/awv117.pdf

Reference91 articles.

1. A method and server for predicting damaging missense mutations

2. De novo mutations in epileptic encephalopathies

3. IRBIT Suppresses IP3 Receptor Activity by Competing with IP3 for the Common Binding Site on the IP3 Receptor

4. Spectrin mutations in spinocerebellar ataxia (SCA)

5. VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Cited by 132 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. Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29;Molecular Genetics & Genomic Medicine;2024-06

2. Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia;Neurology Genetics;2024-06

3. EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report);Neuromuscular Diseases;2024-05-24

4. Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review;Pediatric Neurology;2024-04

5. SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization;Redox Biology;2024-04