Emma Tabe Eko Niba

发表

DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification

H. Nishio, M. Matsuo, Emma Tabe Eko Niba, 2017, Cancer Cell International.

High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts

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

Pilocytic Astrocytoma Tissue from a 25-year-old Patient with Duchenne Muscular Dystrophy Expresses the DMD Transcript but Not Protein

H. Nishio, M. Matsuo, Noriyuki Nishimura, 2020 .

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

H. Nishio, Mawaddah Ar Rochmah, N. Harahap, 2017, The Kobe journal of medical sciences.

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

H. Nishio, A. Takeuchi, K. Tobita, 2019, International journal of neonatal screening.

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.

H. Nishio, Mawaddah Ar Rochmah, N. Harahap, 2017, The Kobe journal of medical sciences.

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

Y. Takeshima, H. Nishio, N. Harahap, 2017, Brain and Development.

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

H. Nishio, Mawaddah Ar Rochmah, N. Harahap, 2017, The Kobe journal of medical sciences.

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.

Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.

Masako Kato, H. Nishio, Mawaddah Ar Rochmah, 2021, Genetic testing and molecular biomarkers.

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

Y. Takeshima, H. Nishio, Toshio Saito, 2020, Brain and Development.

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy

Y. Takeshima, H. Nishio, Mawaddah Ar Rochmah, 2022, Genes.

Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Y. Takeshima, H. Nishio, M. Matsuo, 2019, The Kobe journal of medical sciences.

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2

H. Nishio, M. Matsuo, N. Harahap, 2018, Brain and Development.

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

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

Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System

H. Nishio, M. Matsuo, Emma Tabe Eko Niba, 2018, International journal of molecular sciences.

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.

Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.

Y. Takeshima, H. Nishio, N. Harahap, 2019, The Kobe journal of medical sciences.

Crosstalk between PI3 Kinase/PDK1/Akt/Rac1 and Ras/Raf/MEK/ERK Pathways Downstream PDGF Receptor

T. Nakano, A. Gotoh, T. Nishizaki, 2013, Cellular Physiology and Biochemistry.

Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots

Y. Takeshima, H. Nishio, Toshio Saito, 2021, Genes.

Phenotypes of SMA patients retaining SMN1 with intragenic mutation

Y. Takeshima, H. Nishio, Toshio Saito, 2021, Brain and Development.

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

H. Nishio, N. Harahap, D. K. Nurputra, 2020, International journal of neonatal screening.

Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.

Y. Takeshima, H. Nishio, Toshio Saito, 2019, The Kobe journal of medical sciences.

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

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

Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.

H. Nishio, Emma Tabe Eko Niba, H. Awano, 2021, The Kobe journal of medical sciences.

Gr upSM Mitochondrial Dysfunction in Muscular Dystrophies

Emma Tabe Eko Niba, 2016 .

Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events

M. Matsuo, A. Takeuchi, Emma Tabe Eko Niba, 2015, Human Genetics.

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

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

A Genome-wide Approach to Identify the Genes Involved in Biofilm Formation in E. coli

H. Mori, Emma Tabe Eko Niba, M. Kitakawa, 2008, DNA research : an international journal for rapid publication of reports on genes and genomes.

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

Y. Takeshima, H. Nishio, Emma Tabe Eko Niba, 2021, International journal of neonatal screening.

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.

Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Y. Takeshima, H. Nishio, M. Matsuo, 2019, The Kobe journal of medical sciences.

DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification

H. Nishio, M. Matsuo, Emma Tabe Eko Niba, 2017, Cancer Cell International.

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Y. Takeshima, H. Nishio, Toshio Saito, 2023, International journal of molecular sciences.

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.