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Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies
TLDR
A well-defined set of clinical characteristics are associated with anti-NMDA-receptor encephalitis and the pathogenesis of the disorder seems to be mediated by antibodies. Expand
Paraneoplastic anti–N‐methyl‐D‐aspartate receptor encephalitis associated with ovarian teratoma
TLDR
The autoantigens of a new category of treatment‐responsive paraneoplastic encephalitis are reported, and it is proposed that this category should be combined with existing treatment-responsive encephalopathy categories. Expand
Anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in children and adolescents
To report the clinical features of anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in patients ≤ 18 years old.
AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location
To report the clinical and immunological features of a novel autoantigen related to limbic encephalitis (LE) and the effect of patients' antibodies on neuronal cultures.
Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis
TLDR
These studies establish the cellular mechanisms through which antibodies of patients with anti-NMDAR encephalitis cause a specific, titer-dependent, and reversible loss of NMDARs. Expand
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia
TLDR
The diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD) can be made based on historical features, and the diagnostic scheme may allow better focus in the search for the PKD gene(s). Expand
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
TLDR
Four truncating mutations involving the gene PRRT2 in the vast majority of well-characterized families with PKD/IC are identified, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKd/IC. Expand
Anti-NMDA Receptor Encephalitis Antibody Binding Is Dependent on Amino Acid Identity of a Small Region within the GluN1 Amino Terminal Domain
TLDR
A series of mutants within the amino terminal domain of GluN1 are created that change patient antibody binding in transfected cells in stereotyped ways, demonstrating that the N368/G369 region of GLUN1 is crucial for the creation of immunoreactivity. Expand
Anti-NMDA receptor encephalitis in Japan
TLDR
Findings indicate that “juvenile acute nonherpetic encephalitis” or a subset of this disorder is mediated by an antibody-associated immune response against NR1/NR2 heteromers of the NMDA receptor (NMDAR), and the severity and extended duration of symptoms support tumor removal. Expand
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
TLDR
A SNP-based genome-wide scan in a large consanguineous family revealed a locus for autosomal-recessive ataxia at chromosome 1q41, and a phylogenetic analysis shows that ADCK3 belongs to the family of atypical kinases, which includes phosphoinositide and choline kinase, suggesting that ADCk3 plays an indirect regulatory role in ubiquinone biosynthesis possibly as part of a feedback loop that regulates ATP production. Expand
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