Detalhe da pesquisa
1.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Am J Hum Genet
; 110(7): 1086-1097, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339631
2.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
N Engl J Med
; 378(7): 625-635, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29443664
3.
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.
Muscle Nerve
; 64(4): 413-427, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196026
4.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29091570
5.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
6.
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
J Hum Genet
; 63(3): 281-287, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321516
7.
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
J Hum Genet
; 62(11): 945-948, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28680109
8.
Learning colorectal endoscopic submucosal dissection: a prospective learning curve study using a novel ex vivo simulator.
Surg Endosc
; 31(10): 4231-4237, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28281126
9.
Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
J Genet Couns
; 26(3): 628-639, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27830353
10.
Psychogenic seizures in a child with infantile convulsions and choreoathetosis.
Pediatr Int
; 64(1): e14681, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490964
11.
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
J Hum Genet
; 61(11): 931-942, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27357428
12.
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.
Am J Med Genet A
; 170A(4): 1029-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782978
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716911
14.
Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0.
Ann Neurol
; 86(5): 801-802, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502271
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26118191
16.
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry.
Biochem Biophys Res Commun
; 453(3): 368-74, 2014 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25264200
17.
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
J Hum Genet
; 59(3): 163-72, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24451228
18.
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A
; 164A(8): 1899-908, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715670
19.
Clinical, biochemical and molecular analysis of 13 Japanese patients with ß-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
J Inherit Metab Dis
; 37(5): 801-12, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24526388
20.
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
J Neuromuscul Dis
; 11(2): 425-442, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38250783