Tomoko Lee

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Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy

Y. Takeshima, Y. Sakai, T. Toda, 2017, Brain and Development.

Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon

Y. Takeshima, M. Matsuo, A. Takeuchi, 2016, Brain and Development.

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Y. Takeshima, M. Matsuo, H. Awano, 2013, Gene.

Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity.

Y. Takeshima, M. Matsuo, M. Yagi, 2014, The Kobe journal of medical sciences.

Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup

Y. Takeshima, M. Matsuo, H. Awano, 2017, Neuromuscular Disorders.

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Y. Takeshima, M. Matsuo, M. Yagi, 2014, Journal of Human Genetics.

Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS

Y. Takeshima, H. Nishio, M. Matsuo, 2017, Journal of Human Genetics.

Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.

K. Hirata, Y. Takeshima, S. Kawano, 2013, The American journal of cardiology.

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

G. Comi, C. Palermo, M. Pane, 2022, The Lancet Neurology.

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan

Y. Takeshima, H. Shimomura, Sachi Tokunaga, 2021, Children.

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

Y. Takeshima, H. Nishio, M. Matsuo, 2021, Life.

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Y. Takeshima, H. Nishio, Toshio Saito, 2022, Genes.

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Y. Takeshima, H. Nishio, Toshio Saito, 2021, International journal of neonatal screening.

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

Y. Takeshima, M. Matsuo, T. H. Sasongko, 2011, Molecular genetics and metabolism.

HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab

Y. Takeshima, H. Nishio, M. Matsuo, 2016, Histochemistry and Cell Biology.

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

K. Murayama, J. Häberle, M. Kasahara, 2021, Journal of inherited metabolic disease.

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset Ornithine transcarbamylase deficiency patients.

Y. Takeshima, K. Murayama, Y. Hasegawa, 2020, Clinica chimica acta; international journal of clinical chemistry.

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

H. Kurahashi, Y. Takeshima, H. Nishio, 2016, Journal of Human Genetics.

Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system.

Y. Takeshima, M. Matsuo, H. Awano, 2011, Nucleic acid therapeutics.

Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts

Y. Takeshima, M. Matsuo, A. Takeuchi, 2015, Brain and Development.

Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA

Y. Takeshima, M. Matsuo, A. Takeuchi, 2015, Journal of Human Genetics.

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2012, Journal of Human Genetics.

A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.

Y. Takeshima, M. Matsuo, H. Awano, 2012, Genetic testing and molecular biomarkers.

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

I. Nishino, Y. Takeshima, H. Shimomura, 2019, Human Genome Variation.

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

Y. Takeshima, M. Matsuo, H. Awano, 2013, Journal of Human Genetics.

- O -Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping Antisense oligonucleotide

Y. Takeshima, M. Matsuo, H. Awano, 2020 .

2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping

Y. Takeshima, M. Matsuo, H. Awano, 2017, Genes.

Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers

Y. Takeshima, M. Matsuo, H. Awano, 2012, BMC Genetics.

Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy

Y. Takeshima, M. Matsuo, H. Awano, 2018, Brain and Development.

A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.

Yasuhiro Takeshima, Taku Nakagawa, Yoshihiro Urade, 2013, Clinica chimica acta; international journal of clinical chemistry.

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene.

Y. Takeshima, M. Matsuo, V. Tran, 2014, Clinica chimica acta; international journal of clinical chemistry.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

A. V. van Kuilenburg, L. Zoetekouw, Y. Takeshima, 2014, Journal of Inherited Metabolic Disease.

A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia

Y. Takeshima, T. Fukao, Y. Hasegawa, 2019, JIMD reports.

Underlying diseases in sporadic presentation of high creatine kinase levels in girls.

I. Nishino, Y. Takeshima, H. Shimomura, 2021, Clinica chimica acta; international journal of clinical chemistry.

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

O. Ohara, Y. Takeshima, H. Shimomura, 2018, Human Genome Variation.

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue

H. Shimomura, Sachi Tokunaga, S. Kimura, 2023, Children.

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Y. Takeshima, M. Matsuo, H. Awano, 2011, Molecular genetics and metabolism.

Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease

Y. Takeshima, H. Kodama, M. Yagi, 2015, Brain and Development.

Childhood‐onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene

A. Masamune, Y. Takeshima, K. Kume, 2013, Pediatrics International.

Efficacy of levetiracetam in epilepsy and effect of concomitant drugs on the incidence of somnolence as an adverse effect

H. Shimomura, S. Kikuchi, Sachi Tokunaga, 2021 .

Rapid progression of neuromuscular disorder related cardiomyopathy in a young patient.

K. Hirata, Y. Takeshima, S. Kawano, 2013, Internal medicine.

Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110

Y. Takeshima, H. Nishio, A. Takeuchi, 2023, Genes.

HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab

Y. Takeshima, H. Nishio, M. Matsuo, 2016, Histochemistry and Cell Biology.

Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy

H. Awano, K. Nozu, Tetsushi Yamamoto, 2024, Muscle & nerve.