Search details
1.
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Int J Mol Sci
; 24(15)2023 Jul 26.
Article
in English
| MEDLINE | ID: mdl-37569314
2.
Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report.
Neuropathology
; 42(2): 141-146, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35144320
3.
An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor.
Int J Mol Sci
; 23(9)2022 Apr 30.
Article
in English
| MEDLINE | ID: mdl-35563408
4.
Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.
Int J Mol Sci
; 21(23)2020 Nov 30.
Article
in English
| MEDLINE | ID: mdl-33266296
5.
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.
Int J Mol Sci
; 21(10)2020 May 18.
Article
in English
| MEDLINE | ID: mdl-32443516
6.
Identification of the shortest splice variant of Dp71, together with five known variants, in glioblastoma cells.
Biochem Biophys Res Commun
; 508(2): 640-645, 2019 01 08.
Article
in English
| MEDLINE | ID: mdl-30527806
7.
The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model.
Neurochem Res
; 44(7): 1773-1779, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31102025
8.
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.
Int J Mol Sci
; 19(6)2018 May 23.
Article
in English
| MEDLINE | ID: mdl-29789502
9.
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
J Hum Genet
; 62(5): 531-537, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28100912
10.
DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.
Cancer Cell Int
; 17: 58, 2017.
Article
in English
| MEDLINE | ID: mdl-28546788
11.
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Clin Exp Nephrol
; 21(1): 136-142, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-26968886
12.
[Non-invasive positive pressure ventilation during the management of severe spinal muscular atrophy type I].
No To Hattatsu
; 49(2): 141-4, 2017 03.
Article
in Japanese
| MEDLINE | ID: mdl-30113157
13.
HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.
Histochem Cell Biol
; 146(3): 301-9, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27109495
14.
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.
J Hum Genet
; 61(4): 351-5, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26740235
15.
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
J Hum Genet
; 60(5): 233-9, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25716911
16.
A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
Clin Lab
; 61(5-6): 575-80, 2015.
Article
in English
| MEDLINE | ID: mdl-26118191
17.
The emergence of CD20-/CD19- tumor cells after rituximab therapy for Epstein-Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis.
Eur J Pediatr
; 173(12): 1615-8, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24169729
18.
Nusinersen helps restore walking ability in childhood spinal muscular atrophy.
Pediatr Int
; 61(7): 728-729, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31290219
19.
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
SAGE Open Med Case Rep
; 12: 2050313X231221436, 2024.
Article
in English
| MEDLINE | ID: mdl-38187815
20.
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.
Sci Rep
; 14(1): 6506, 2024 03 18.
Article
in English
| MEDLINE | ID: mdl-38499569