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。Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition
Jes Olesen
CEPHALALGIA (2018)
Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation
N. Pelzer et al.
CEPHALALGIA (2017)
The α2β2 isoform combination dominates the astrocytic Na+/K+-ATPase activity and is rendered nonfunctional by the α2.G301R familial hemiplegic migraine type 2-associated mutation
Anca Stoica et al.
GLIA (2017)
The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease
Michael V. Clausen et al.
FRONTIERS IN PHYSIOLOGY (2017)
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model
Pernille Bottger et al.
SCIENTIFIC REPORTS (2016)
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)
Isolation, crystallization and crystal structure determination of bovine kidney Na+, K+-ATPase
Jonas Lindholt Gregersen et al.
ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS (2016)
Migraine pathophysiology: lessons from mouse models and human genetics
Michel D. Ferrari et al.
LANCET NEUROLOGY (2015)
JPred4: a protein secondary structure prediction server
Alexey Drozdetskiy et al.
NUCLEIC ACIDS RESEARCH (2015)
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine
Se-Kyung Oh et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Biochemical characterization of sporadic/familial hemiplegic migraine mutations
Karl M. Weigand et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
PredictProtein-an open resource for online prediction of protein structural and functional features
Guy Yachdav et al.
NUCLEIC ACIDS RESEARCH (2014)
The International Classification of Headache Disorders, 3rd edition (beta version)
Andre Bes et al.
CEPHALALGIA (2013)
Predicting the functional consequences of non-synonymous DNA sequence variants - evaluation of bioinformatics tools and development of a consensus strategy
Kimon Frousios et al.
GENOMICS (2013)
PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees
Huaiyu Mi et al.
NUCLEIC ACIDS RESEARCH (2013)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
P-Type ATPases
Michael G. Palmgren et al.
ANNUAL REVIEW OF BIOPHYSICS, VOL 40 (2011)
A new Italian FHM2 family: Clinical aspects and functional analysis of the disease-associated mutation
Lucio Santoro et al.
CEPHALALGIA (2011)
Predicting the functional impact of protein mutations: application to cancer genomics
Boris Reva et al.
NUCLEIC ACIDS RESEARCH (2011)
Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2
Loredana Leo et al.
PLOS GENETICS (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine
F. Riant et al.
NEUROLOGY (2010)
Visualizing the mapped ion pathway through the Na, K-ATPase pump
Ayako Takeuchi et al.
CHANNELS (2009)
Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutation identified in sporadic or familial hemiplegic migraine
Neslihan N. Tavraz et al.
CHANNELS (2009)
Crystal structure of the sodium-potassium pump at 2.4 Å resolution
Takehiro Shinoda et al.
NATURE (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations
J. Preben Morth et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2009)
The genetic spectrum of a population-based sample of familial hemiplegic migraine
L. L. Thomsen et al.
BRAIN (2007)
Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools
Paul D. Thomas et al.
NUCLEIC ACIDS RESEARCH (2006)
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
U Todt et al.
HUMAN MUTATION (2005)
PMUT:: a web-based tool for the annotation of pathological mutations on proteins
C Ferrer-Costa et al.
BIOINFORMATICS (2005)
Biology, structure and mechanism of P-type ATPases
W Kühlbrandt
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
M Spadaro et al.
NEUROGENETICS (2004)
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
MT Bassi et al.
JOURNAL OF MEDICAL GENETICS (2004)
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
M De Fusco et al.
NATURE GENETICS (2003)
分享论文
