Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein-Reference-Cited by-同舟云学术

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Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein

Published:2008-12 Issue:06 Volume:39 Page:347-350
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Bernard V.,Stricker S.,Kreuz F.,Minnerop M.,Gillessen-Kaesbach G.,Zühlke C.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0029-1214424.pdf

Cited by 14 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. Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes;Journal of Neurogenetics;2023-12-18

2. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review;Frontiers in Molecular Neuroscience;2022-11-10

3. Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients;Genes;2021-11-23

4. Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort;International Journal of Molecular Sciences;2020-05-08

5. Genetics and Clinical Features of Inherited Ataxias;Movement Disorders;2015

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