Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood-Reference-Cited by-同舟云学术

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Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood

Published:2019-05 Issue: Volume:94 Page:38-47
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Zhang Jie,Liu Ming^ORCID,Zhang Zhongbin,Zhou Ling,Kong Weijing,Jiang Yuwu,Wang Jingmin,Xiao Jiangxi,Wu Ye

Funder

Ministry of Science and Technology of China

National Key Research and Development Program of China

Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference33 articles.

1. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies;Parikh;Mol Genet Metab,2015

2. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms;van der Knaap;Acta Neuropathol,2017

3. Progressive cavitating leukoencephalopathy: a novel childhood disease;SakkuBai;Ann Neurol,2005

4. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1;Björkman;Mitochondrion,2015

5. Siblings with leukoencephalopathy;Breningstall;Semin Pediatr Neurol,2008

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1. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history;Journal of Human Genetics;2024-09-03

2. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update;Journal of Inherited Metabolic Disease;2024-07-25

3. Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3;Molecular Genetics & Genomic Medicine;2024-06

4. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history;2024-02-21

5. Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of the phenotype;Ultrasound in Obstetrics & Gynecology;2023-09-18

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