Novel mutation of theWDR45gene causing beta-propeller protein-associated neurodegeneration-Reference-Cited by-同舟云学术

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Novel mutation of theWDR45gene causing beta-propeller protein-associated neurodegeneration

Published:2014-03-07 Issue:4 Volume:29 Page:574-575
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Rathore Geetanjali S.¹,Schaaf Christian P.²³,Stocco Amber J.¹

Affiliation:

1. Department of Neurology and Developmental Neuroscience; Texas Children's Hospital, Baylor College of Medicine; Houston Texas USA

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas USA

3. Jan and Dan Duncan Neurological Research Institute; Texas Children's Hospital; Houston Texas USA

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference5 articles.

1. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood;Saitsu;Nat Genet,2013

2. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA;Haack;Am J Hum Genet,2012

3. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation;Hayflick;Brain,2013

4. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA);Schneider;Curr Neuropharmacol,2013

Cited by 28 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. Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy;Investigative Opthalmology & Visual Science;2023-10-11

2. Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration;American Journal of Neuroradiology;2022-11-17

3. Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration;American Journal of Neuroradiology;2022-11-03

4. Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2022-01-24

5. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse;Mammalian Genome;2021-05-27

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