A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference15 articles.
1. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance;Finsterer;J Neurol Sci,2012
2. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35);Dick;Hum Mutat,2010
3. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21–q23;Dick;Neurology,2008
4. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA);Kruer;Ann Neurol,2010
5. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration;Pierson;Eur J Hum Genet,2012
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1. A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients;Pediatric Neurology;2024-03
2. Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35);Genes;2023-12-20
3. Novel variant in Moroccan patient with hereditary spastic paraplegia type 35;Human Gene;2023-12
4. 中国儿童遗传性痉挛性截瘫的临床与遗传特点;Developmental Medicine & Child Neurology;2022-09-20
5. Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children;Developmental Medicine & Child Neurology;2022-09-15
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