Erika Abe

Yurihonjo, Japan

Last Updated: 09/26/2026

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Found 11 publications

Intellectual Disability and Microcephaly With Pontine and Cerebellar Hypoplasia in Adults: Severity Spectrum and Diversity of the CASK Gene Aberrations.

Intellectual Disability and Microcephaly With Pontine and Cerebellar Hypoplasia in Adults: Severity Spectrum and Diversity of the CASK Gene Aberrations.

Journal: Cureus
Published: May 27, 2026

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Journal: Journal of neurology
Published: July 05, 2023

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

Journal: Cureus
Published: January 05, 2023

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

Journal: Molecular syndromology
Published: April 12, 2022

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Journal: Molecular syndromology
Published: October 14, 2021

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Journal: JAMA neurology
Published: May 28, 2021

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Journal: Case reports in neurology
Published: November 02, 2020

Heart Rate Variability-Based Driver Drowsiness Detection and Its Validation With EEG.

Heart Rate Variability-Based Driver Drowsiness Detection and Its Validation With EEG.

Journal: IEEE transactions on bio-medical engineering
Published: November 08, 2018

Epileptic Seizure Prediction Based on Multivariate Statistical Process Control of Heart Rate Variability Features.

Epileptic Seizure Prediction Based on Multivariate Statistical Process Control of Heart Rate Variability Features.

Journal: IEEE transactions on bio-medical engineering
Published: February 04, 2016

Escherichia coli-based production of recombinant ovine angiotensinogen and its characterization as a renin substrate.

Escherichia coli-based production of recombinant ovine angiotensinogen and its characterization as a renin substrate.

Journal: BMC biotechnology
Published: November 24, 2015

Exploring Potential Energy Surfaces of Large Systems with Artificial Force Induced Reaction Method in Combination with ONIOM and Microiteration.

Exploring Potential Energy Surfaces of Large Systems with Artificial Force Induced Reaction Method in Combination with ONIOM and Microiteration.

Journal: Journal of chemical theory and computation
Published: December 11, 2012
Showing 1-11 of 11

Last Updated: 09/26/2026