相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review
Ying Du et al.
NEUROPEDIATRICS (2020)
Genetics of migraine aura: an update
Irene de Boer et al.
JOURNAL OF HEADACHE AND PAIN (2020)
A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2
Wenjing Tang et al.
CEPHALALGIA (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome
Massimiliano Filosto et al.
JOURNAL OF CLINICAL MEDICINE (2019)
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation
Nadine Pelzer et al.
NEUROLOGY (2018)
ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease
Thomas Friedrich et al.
FRONTIERS IN PHYSIOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations
Bashaer Al-Bulushi et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
Hanka Venselaar et al.
BMC BIOINFORMATICS (2010)