Detalhe da pesquisa
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
2.
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.
J Hum Genet
; 68(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192516
3.
Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual.
Exp Cell Res
; 398(2): 112419, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296661
4.
sp2-Iminosugars targeting human lysosomal ß-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.
J Enzyme Inhib Med Chem
; 37(1): 1364-1374, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575117
5.
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act.
J Hum Genet
; 66(11): 1043-1051, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059779
6.
Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome.
Neuropathology
; 41(1): 58-64, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181865
7.
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Neuropathology
; 40(4): 379-388, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219895
8.
[Successful treatment with enzyme replacement therapy for pelvic fragile fracture in an elderly case of type I Gaucher's disease].
Rinsho Ketsueki
; 61(12): 1654-1659, 2020.
Artigo
em Japonês
| MEDLINE | ID: mdl-33441516
9.
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
BMC Neurol
; 18(1): 117, 2018 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30119649
10.
Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human ß-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.
Molecules
; 23(4)2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673163
11.
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.
Neuropathology
; 37(5): 426-430, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28387450
12.
[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].
No To Hattatsu
; 49(3): 203-6, 2017 05.
Artigo
em Japonês
| MEDLINE | ID: mdl-30113798
13.
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
Am J Med Genet A
; 170A(5): 1278-82, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789537
14.
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
No To Hattatsu
; 48(3): 205-8, 2016 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-27349084
15.
Recurrent micronucleation through cell cycle progression in the presence of microtubule inhibitors.
Cell Struct Funct
; 40(1): 51-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736016
16.
Structural basis of pharmacological chaperoning for human ß-galactosidase.
J Biol Chem
; 289(21): 14560-8, 2014 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24737316
17.
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
J Hum Genet
; 60(9): 539-45, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108143
18.
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
Clin Endocrinol (Oxf)
; 83(6): 834-41, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866162
19.
Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat.
Clin Exp Nephrol
; 19(4): 576-84, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25239792
20.
pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.
Angew Chem Int Ed Engl
; 54(40): 11696-700, 2015 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386364