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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Comparison of Current Induced Domain Wall Motion Driven by Spin Transfer Torque and by Spin Orbit Torque in Ferrimagnetic GdFeCo Wires.
- Published in:
- Magnetochemistry, 2024, v. 10, n. 5, p. 36, doi. 10.3390/magnetochemistry10050036
- By:
- Publication type:
- Article
Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 5, p. 604, doi. 10.1002/mus.28073
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- Publication type:
- Article
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00271-2
- By:
- Publication type:
- Article
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
- Published in:
- SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X231221436
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- Publication type:
- Article
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2360, doi. 10.1002/acn3.51925
- By:
- Publication type:
- Article
Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2159, doi. 10.3390/genes14122159
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- Publication type:
- Article
Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2211, doi. 10.3390/genes14122211
- By:
- Publication type:
- Article
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 11939, doi. 10.3390/ijms241511939
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- Publication type:
- Article
Impact after the Change from Voluntary to Universal Oral Rotavirus Vaccination on Consecutive Emergency Department Visits for Acute Gastroenteritis among Children in Kobe City, Japan (2016–2022).
- Published in:
- Vaccines, 2022, v. 10, n. 11, p. 1831, doi. 10.3390/vaccines10111831
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- Publication type:
- Article
Detecting pathogenic deep intronic variants in Gitelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
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- Publication type:
- Article
Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.
- Published in:
- Advances in Therapy, 2022, v. 39, n. 5, p. 1915, doi. 10.1007/s12325-022-02089-2
- By:
- Publication type:
- Article
Serum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Becker muscular dystrophies.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. 521, doi. 10.1002/mus.27522
- By:
- Publication type:
- Article
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 685, doi. 10.3390/genes13040685
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- Publication type:
- Article
Identification of plexin D1 on circulating extracellular vesicles as a potential biomarker of polymyositis and dermatomyositis.
- Published in:
- Rheumatology, 2022, v. 61, n. 4, p. 1669, doi. 10.1093/rheumatology/keab588
- By:
- Publication type:
- Article
A sandwich ELISA kit reveals marked elevation of titin N‐terminal fragment levels in the urine of mdx mice.
- Published in:
- Animal Models & Experimental Medicine, 2022, v. 5, n. 1, p. 48, doi. 10.1002/ame2.12204
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- Publication type:
- Article
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 205, doi. 10.3390/genes13020205
- By:
- Publication type:
- Article
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 262, doi. 10.1093/ndt/gfab274
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- Publication type:
- Article
Frequent recurrence of pancreatitis in a patient with Leigh syndrome.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15021
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- Publication type:
- Article
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.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 79, doi. 10.3390/ijns7040079
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- Publication type:
- Article
Ferromagnetic Resonance of a [GeTe/Sb 2 Te 3 ] 6 /Py Superlattice.
- Published in:
- Magnetochemistry, 2021, v. 7, n. 12, p. 156, doi. 10.3390/magnetochemistry7120156
- By:
- Publication type:
- Article
Large Perpendicular Exchange Energy in Tb<sub>x</sub>Co<sub>100-x</sub>/Cu(t)/[Co/Pt]<sub>2</sub> Heterostructures.
- Published in:
- Magnetochemistry, 2021, v. 7, n. 11, p. 1, doi. 10.3390/magnetochemistry7110141
- By:
- Publication type:
- Article
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1621, doi. 10.3390/genes12101621
- By:
- Publication type:
- Article
Subacute hypoglycemia during gastroenteritis in a child with medium‐chain acyl‐CoA dehydrogenase deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045
- By:
- Publication type:
- Article
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 9, p. 978, doi. 10.3390/life11090978
- By:
- Publication type:
- Article
Strain-induced modulation of temperature characteristics in ferrimagnetic Tb–Fe films.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85642-3
- By:
- Publication type:
- Article
Topologically protected spin diffusion and spin generator using chalcogenide superlattices.
- Published in:
- NPJ 2D Materials & Applications, 2020, v. 4, n. 1, p. 1, doi. 10.1038/s41699-020-0157-8
- By:
- Publication type:
- Article
Association of Dermatomyositis Sine Dermatitis With Anti–Nuclear Matrix Protein 2 Autoantibodies.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 7, p. 872, doi. 10.1001/jamaneurol.2020.0673
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- Publication type:
- Article
Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3555, doi. 10.3390/ijms21103555
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- Publication type:
- Article
Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 181, doi. 10.1002/acn3.50978
- By:
- Publication type:
- Article
Strain-induced switching of heat current direction generated by magneto-thermoelectric effects.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49567-2
- By:
- Publication type:
- Article
A case of probable Vogt-Koyanagi-Harada disease in a 3-year-old girl.
- Published in:
- 2019
- By:
- Publication type:
- Journal Article
The prescription rates of glucagon for hypoglycemia by pediatricians and physicians are low in Japan.
- Published in:
- Endocrine (1355008X), 2019, v. 64, n. 2, p. 233, doi. 10.1007/s12020-018-1793-z
- By:
- Publication type:
- Article
In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity‐onset diabetes of the young type 1.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 3, p. 680, doi. 10.1111/jdi.12960
- By:
- Publication type:
- Article
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0052-z
- By:
- Publication type:
- Article
Interference Induced Enhancement of Magneto-Optical Effect in Pt/TbCo Hetero-Structured Films.
- Published in:
- Crystals (2073-4352), 2018, v. 8, n. 10, p. 377, doi. 10.3390/cryst8100377
- By:
- Publication type:
- Article
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1546, doi. 10.3390/ijms19061546
- By:
- Publication type:
- Article
A de novo 50-bp <bold><italic>GNAS</italic></bold> Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 153, n. 3, p. 125, doi. 10.1159/000485644
- By:
- Publication type:
- Article
Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191016
- By:
- Publication type:
- Article
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
- Published in:
- Pediatrics International, 2018, v. 60, n. 1, p. 67, doi. 10.1111/ped.13438
- By:
- Publication type:
- Article
Dystrophin Dp116: A Yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene.
- Published in:
- Genes, 2017, v. 8, n. 10, p. 251, doi. 10.3390/genes8100251
- By:
- Publication type:
- Article
DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.
- Published in:
- Cancer Cell International, 2017, v. 17, p. 1, doi. 10.1186/s12935-017-0428-4
- By:
- Publication type:
- Article
2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping.
- Published in:
- Genes, 2017, v. 8, n. 2, p. 67, doi. 10.3390/genes8020067
- By:
- Publication type:
- Article
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age children.
- Published in:
- Scientific Reports, 2016, p. 38659, doi. 10.1038/srep38659
- By:
- Publication type:
- Article
Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164187
- By:
- Publication type:
- Article
HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.
- Published in:
- Histochemistry & Cell Biology, 2016, v. 146, n. 3, p. 301, doi. 10.1007/s00418-016-1439-2
- By:
- Publication type:
- Article
Magnetic Field-Dependent Magneto-Optical Kerr Effect in [(GeTe)(SbTe)] Topological Superlattice.
- Published in:
- Journal of Electronic Materials, 2016, v. 45, n. 5, p. 2496, doi. 10.1007/s11664-016-4389-5
- By:
- Publication type:
- Article
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.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 993, doi. 10.1007/s00439-015-1581-2
- By:
- Publication type:
- Article