Yasuyo Suzuki

Kasugai, 4800392, Japan

Last Updated: 09/26/2026

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Found 12 publications

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Journal: Molecular neurobiology

Published: July 31, 2025

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Journal: European journal of medical genetics

Published: July 10, 2023

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

Journal: American journal of medical genetics. Part A

Published: November 04, 2020

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.

Journal: Human mutation

Published: January 07, 2020

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Journal: Gene

Published: November 15, 2017

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).

Journal: Oncotarget

Published: December 21, 2016

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Journal: American journal of medical genetics. Part A

Published: November 14, 2016

β-III Tubulin fragments inhibit α-synuclein accumulation in models of multiple system atrophy.

β-III Tubulin fragments inhibit α-synuclein accumulation in models of multiple system atrophy.

Journal: The Journal of biological chemistry

Published: July 17, 2014

Cystatin C triggers neuronal degeneration in a model of multiple system atrophy.

Cystatin C triggers neuronal degeneration in a model of multiple system atrophy.

Journal: The American journal of pathology

Published: May 21, 2013

Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.

Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.

Journal: Neuroscience letters

Published: May 13, 2013

α-Synuclein accumulation reduces GABAergic inhibitory transmission in a model of multiple system atrophy.

α-Synuclein accumulation reduces GABAergic inhibitory transmission in a model of multiple system atrophy.

Journal: Biochemical and biophysical research communications

Published: September 28, 2012

Binding of neuronal α-synuclein to β-III tubulin and accumulation in a model of multiple system atrophy.

Binding of neuronal α-synuclein to β-III tubulin and accumulation in a model of multiple system atrophy.

Journal: Biochemical and biophysical research communications

Published: December 13, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026