Search details
1.
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics
; 25(1): 3-11, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37882972
2.
Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis.
Epilepsia
; 65(5): 1304-1313, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38469885
3.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33824499
4.
In vitro functional analysis of four variants of human asparagine synthetase.
J Inherit Metab Dis
; 44(5): 1226-1234, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34080208
5.
FDG-PET/CT for Detection of Extramedullary Disease in 2 Pediatric Patients With AML.
J Pediatr Hematol Oncol
; 38(5): 398-401, 2016 07.
Article
in English
| MEDLINE | ID: mdl-26535770
6.
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
J Hum Genet
; 60(12): 739-42, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26354034
7.
Alice in Wonderland syndrome associated with influenza virus infection.
Pediatr Int
; 62(12): 1391-1393, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33145932
8.
Novel variants of ABCC9 in Japanese children with Cantú syndrome.
Pediatr Int
; 62(3): 410-412, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-32198910
9.
Differences in fluorodeoxyglucose positron emission tomography/computed tomography findings between elderly onset rheumatoid arthritis and polymyalgia rheumatica.
Mod Rheumatol
; 25(4): 546-51, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25401232
10.
Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.
J Clin Immunol
; 34(5): 584-93, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24760114
11.
Utility of fluorodeoxyglucose positron emission tomography/computed tomography for early diagnosis and evaluation of disease activity of relapsing polychondritis: a case series and literature review.
Rheumatology (Oxford)
; 53(8): 1482-90, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24681839
12.
Levetiracetam-Associated Decrease in Pitch Perception.
Am J Ther
; 26(4): e527-e528, 2019.
Article
in English
| MEDLINE | ID: mdl-31169560
13.
Large vessel vasculitis in elderly patients: early diagnosis and steroid-response evaluation with FDG-PET/CT and contrast-enhanced CT.
Rheumatol Int
; 34(11): 1545-54, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24643395
14.
Immunoglobulin A vasculitis complicated with posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome.
Pediatr Int
; 61(8): 836-838, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31449351
15.
Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia.
Pediatr Int
; 56(4): e37-40, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25252069
16.
Clinical value of ¹8F-fluoro-dexoxyglucose positron emission tomography/computed tomography in patients with adult-onset Still's disease: a seven-case series and review of the literature.
Mod Rheumatol
; 24(4): 645-50, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24252024
17.
[Additional external radiotherapy to multiple metastases originating from thymic neuroendocrine tumor following peptide receptor radionuclide therapy: a case report].
Kaku Igaku
; 51(2): 47-53, 2014 May.
Article
in Japanese
| MEDLINE | ID: mdl-25011199
18.
Prognostic value of post-treatment (18)F-FDG PET/CT for advanced head and neck cancer after combined intra-arterial chemotherapy and radiotherapy.
Chin J Cancer Res
; 26(1): 30-7, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24653624
19.
In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.
J Clin Immunol
; 33(2): 325-34, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23015306
20.
Peripheral blood stem cell transplantation in a significant body weight difference between a smaller donor and a larger recipient: a case report.
Transfus Apher Sci
; 49(3): 504-6, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23422651