The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders-Reference-Cited by-同舟云学术

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Published:2017-07-12 Issue:8 Volume:140 Page:e49-e49
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Salpietro Vincenzo¹,Zollo Massimo²³⁴,Vandrovcova Jana¹,Ryten Mina¹,Botia Juan A¹,Ferrucci Veronica²³⁴,Manole Andreea¹,Efthymiou Stephanie¹,Al Mutairi Fuad⁵,Bertini Enrico⁶,Tartaglia Marco⁶¹,Houlden Henry¹,

Affiliation:

1. Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK

2. Department of Molecular Medicine and Medical Biotechnologies “DMMBM”, University of Naples “Federico II”, Naples 80131, Italy

3. CEINGE Biotecnologie Avanzate, Naples 80131, Italy

4. European School of Molecular Medicine, SEMM, University of Milan, Italy

5. King Saud bin Abdulaziz University for Health Sciences, Department of Pediatrics, Division of Genetics, Riyadh 14611, Saudi Arabia

6. Genetics and Rare Diseases Research Division, Ospedale Pediatrico “Bambino Gesù”, Rome 00146, Italy

Funder

Wellcome Trust

Italian Association for Cancer Research

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/140/8/e49/24175469/awx155.pdf

Reference29 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss;Anttonen;Brain,2017

3. PEHO syndrome: a study of five Argentinian patients;Caraballo;Pediatr Neurol,2011

4. PRUNE and NM23-M1 expression in embryonic and adult mouse brain;Carotenuto;J Bioenerg Biomembr,2006

5. PEHO or PEHO-like syndrome?;Chitty;Clin Dysmorph,1996

Cited by 33 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. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature;Frontiers in Neurology;2023-12-21

2. Neuroimaging features of WOREE syndrome: a mini-review of the literature;Frontiers in Pediatrics;2023-12-15

3. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children;Pediatric Neurology;2023-12

4. The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review;Frontiers in Neurology;2023-11-29

5. The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications;Genes;2023-11-22