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1.
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.
Mol Ther
; 32(3): 609-618, 2024 Mar 06.
Article
in English
| MEDLINE | ID: mdl-38204164
2.
Heterogeneity and mitochondrial vulnerability configurate the divergent immunoreactivity of human induced microglia-like cells.
Clin Immunol
; 255: 109756, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37678717
3.
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
J Peripher Nerv Syst
; 28(4): 597-607, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37555797
4.
Long-lasting pain and somatosensory disturbances in children with myelin oligodendrocyte glycoprotein antibody-associated disease.
Eur J Pediatr
; 182(7): 3175-3185, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37119299
5.
Monogenic causes of pigmentary mosaicism.
Hum Genet
; 141(11): 1771-1784, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-35503477
6.
Acute flaccid myelitis: cause, diagnosis, and management.
Lancet
; 397(10271): 334-346, 2021 01 23.
Article
in English
| MEDLINE | ID: mdl-33357469
7.
The clinical characteristics of pediatric coronavirus disease 2019 in 2020 in Japan.
Pediatr Int
; 64(1): e14912, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34233075
8.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet
; 66(11): 1061-1068, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33958710
9.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat
; 41(3): 591-599, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31821646
10.
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
J Hum Genet
; 65(9): 727-734, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32341456
11.
Disseminated cortical and subcortical lesions in neonatal enterovirus 71 encephalitis.
J Neurovirol
; 26(5): 790-792, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32671810
12.
Subcortical axonal loss with glial reactions following partial status epilepticus with neuroradiological findings of reduced subcortical diffusion.
Neurol Sci
; 40(4): 851-855, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30443827
13.
Surgical histopathology of limited dorsal myeloschisis with flat skin lesion.
Childs Nerv Syst
; 35(1): 119-128, 2019 01.
Article
in English
| MEDLINE | ID: mdl-29934704
14.
Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August-December 2015.
Clin Infect Dis
; 66(5): 653-664, 2018 02 10.
Article
in English
| MEDLINE | ID: mdl-29028962
15.
Mulberries in the urine: a tell-tale sign of Fabry disease.
J Inherit Metab Dis
; 41(4): 745-746, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29488049
16.
Venous anomaly analogous to vertical embryonic positioning of the straight sinus associated with atretic cephalocele at the suboccipital region.
Childs Nerv Syst
; 33(1): 179-182, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27262313
17.
[Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory to acetazolamide].
No To Hattatsu
; 49(3): 207-10, 2017 05.
Article
in Japanese
| MEDLINE | ID: mdl-30113799
18.
Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0.
Ann Neurol
; 86(5): 801-802, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31502271
19.
Letter to the Editor.
J Paediatr Child Health
; 56(2): 348-349, 2020 02.
Article
in English
| MEDLINE | ID: mdl-32045130
20.
Influenza-associated encephalopathy with focal late reduced diffusion circumscribing a pre-existing cortical lesion.
J Neuroradiol
; 47(3): 241-243, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32035073