Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia-Reference-Cited by-同舟云学术

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

Published:2020-04 Issue: Volume:411 Page:116669
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Bibi Farah,Efthymiou Stephanie^ORCID,Bourinaris Thomas,Tariq Ambreen,Zafar Faisal,Rana Nouzhat,Salpietro Vincenzo,Houlden Henry^ORCID,Raja Ghazala Kaukab,Saeed Sadia,Minhas Nasir Mahmood

Funder

Brain Research UK

UCLH Biomedical Research Centre

Higher Education Commision, Pakistan

Rosetrees Trust

Wellcome Trust

Muscular Dystrophy UK

Medical Research Council

Ataxia UK

Muscular Dystrophy Association

Multiple System Atrophy Trust

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference16 articles.

1. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia;Kariminejad;Eur. J. Paediatr. Neurol.,2016

2. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination;Minase;J. Hum. Genet.,2017

3. Hereditary spastic paraplegia overview;Hedera,1993

4. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families;Zulfiqar;J. Clin. Neurosci.,2019

5. The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity;Schule;Neurology,2006

Cited by 13 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. Identification and analyses of exonic and copy number variants in spastic paraplegia;Scientific Reports;2024-06-21

2. Clinical and genetic characteristics of CYP2U1-associated hereditary spastic paraplegia in three children from China;2023-10-19

3. Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26;Frontiers in Neurology;2023-08-23

4. Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders;Genes;2023-07-06

5. Genetic Mapping of Progressive Ethanol Consumption in the Diversity Outbred Mouse;2022-12-07