Uniparental disomy of chromosome 16 unmasks recessive mutations ofFA2H/SPG35 in 4 families-Reference-Cited by-同舟云学术

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Uniparental disomy of chromosome 16 unmasks recessive mutations ofFA2H/SPG35 in 4 families

Published:2016-06-17 Issue:2 Volume:87 Page:186-191
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Soehn Anne S.,Rattay Tim W.,Beck-Wödl Stefanie,Schäferhoff Karin,Monk David,Döbler-Neumann Marion,Hörtnagel Konstanze,Schlüter Agatha,Ruiz Montserrat,Pujol Aurora,Züchner Stephan,Riess Olaf,Schüle Rebecca,Bauer Peter,Schöls Ludger

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 27 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. “Neurodevelopmental outcome of a child with UPD(16)mat: A case report”;Global Pediatrics;2024-09

2. 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

3. Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration;Journal of Pediatric Endocrinology and Metabolism;2024-02-06

4. Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35);Genes;2023-12-20

5. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization;Genome Medicine;2023-09-07

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