Detalhe da pesquisa
1.
Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110.
Genes (Basel)
; 14(3)2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36981045
2.
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.
Genes (Basel)
; 13(4)2022 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456491
3.
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Genes (Basel)
; 13(2)2022 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205250
4.
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.
Genes (Basel)
; 13(11)2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421785
5.
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
Genes (Basel)
; 12(10)2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681015
6.
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.
Int J Neonatal Screen
; 7(4)2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34842616
7.
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.
Kobe J Med Sci
; 67(2): E71-E78, 2021 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34795158
8.
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Brain Dev
; 43(2): 294-302, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33036822
9.
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Genet Test Mol Biomarkers
; 25(4): 293-301, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33877896
10.
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Int J Neonatal Screen
; 7(3)2021 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287247
11.
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Brain Dev
; 43(7): 745-758, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892995
12.
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.
Int J Neonatal Screen
; 6(2): 43, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073034
13.
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.
Kobe J Med Sci
; 66(1): E1-E11, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814752
14.
Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.
Kobe J Med Sci
; 65(3): E95-E99, 2019 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32029694
15.
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
Int J Neonatal Screen
; 5(4): 41, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072999
16.
Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.
Kobe J Med Sci
; 65(2): E54-E58, 2019 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31956257
17.
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.
Brain Dev
; 40(8): 670-677, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29580671