Claudio M De Gusmao, Laura Silveira-Moriyama. Expert Rev Neurother 2019
Times Cited: 4
Times Cited: 4
Times Cited
Times Co-cited
Similarity
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.
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FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.
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Emerging roles of Fgf14 in behavioral control.
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Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.
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Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.
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A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
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Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
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Genetic Variants Associated with Episodic Ataxia in Korea.
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Structural evolution of tunneling oxide passivating contact upon thermal annealing.
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Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion.
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Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders.
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A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
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FGF14 is a regulator of KCNQ2/3 channels.
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
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De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
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Identification of novel genetic causes of Rett syndrome-like phenotypes.
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Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study.
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Convergent evidence for abnormal striatal synaptic plasticity in dystonia.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.