Bi-allelic mutations in prune lead to neurodegeneration with spinal motor neuron involvement and hyperckaemia-Reference-Cited by-同舟云学术

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Bi-allelic mutations in prune lead to neurodegeneration with spinal motor neuron involvement and hyperckaemia

Published:2019 Issue:6 Volume:61 Page:931
ISSN:0041-4301
Container-title:The Turkish Journal of Pediatrics
language:
Short-container-title:TurkJPediatr

Author:

Okur Derya,Daimagüler Hülya Sevcan,Danyeli Ayça Ersen,Tekgül Hasan,Wang Haicui,Wunderlich Gilbert,Çırak Sebahattin,Yiş Uluç

Publisher

The Turkish Journal of Pediatrics

Subject

Pediatrics, Perinatology and Child Health

Cited by 4 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. PRUNE1 c. 933G >A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature;American Journal of Medical Genetics Part A;2022-02-23

2. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors;Frontiers in Oncology;2021-10-22

3. An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families;Annals of Human Genetics;2021-06-10

4. On the differential diagnosis of neuropathy in neurogenetic disorders;Medizinische Genetik;2020-09-01

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