日本語
TOP page
Published papers
Academic conference presentation
Academic society memberships
Education
(Last updated : 2024-04-04 09:47:49)
Shichiji Minobu
Department
School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics
Position
Assistant Professor
■
Published papers
1.
Case report
Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
2.
Original article
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
3.
Review article
A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
4.
Original article
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
5.
Original article
Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
6.
Original article
Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
7.
Original article
Extensive morphological and immunohistochemical characterization in myotubular myopathy 2013/05/06
8.
Original article
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
9.
Original article
CDKL5 alterations lead to early epileptic encephalopathy in both genders. 2011/10
Display 5 items
Display all(9)
■
Academic conference presentation
1.
Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. 2024/03/15
2.
A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2023/10/14
3.
Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) 2023/10/06
4.
Sleep disorders in Fukuyama congenital muscular distrophy 2023/05/27
5.
Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) 2023/05/27
6.
A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance 2023/05/26
7.
Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease 2023/05/26
8.
An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy 2023/05/25
9.
Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2023/04/16
10.
Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/10/14
11.
Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/06/03
12.
Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) 2022/06/03
13.
Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD 2022/06/03
14.
Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/08/28
15.
A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness 2021/05/29
16.
Correlation between BNP and NT-proBNP in muscular dystrophy 2021/05/28
17.
Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2021/05/28
18.
Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/05/28
19.
A case of chondrodysplasia punctate patient requiring differentiation of floppy infant 2020/08/19
20.
Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy 2020/08/19
21.
Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients 2020/08/19
22.
Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance 2020/08/19
23.
Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry 2019/10/04
24.
Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/10/04
25.
A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan 2019/10/02
26.
Characteristic findings of skeletal muscle MRI in Cavecolinopathies 2019/10/02
27.
Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease 2019/07/13
28.
Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy 2019/06/01
29.
A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy 2019/05/31
30.
Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy 2019/05/31
31.
Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/05/31
32.
The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV 2018/06/02
33.
Care and prevention of foot disorders in Bethelm myopathy patients 2018/06/01
34.
Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease 2018/06/01
35.
Modified gross motor function measure for Fukuyama congenital muscular dystrophy 2018/05/31
36.
The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family 2018/05/31
37.
Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy 2017/10/14
38.
A Japanese nationwide survey on congenital myotonic dystrophy 2017/05/13
39.
Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study 2017/05/13
40.
Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy 2017/05/13
41.
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy 2017/05/13
42.
Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients 2016/06/03
43.
Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan 2016/06/03
44.
Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care 2016/06/03
45.
The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy 2016/06/03
46.
Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy 2016/06/03
47.
Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy 2014/10/09
48.
Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory 2014/10/07
49.
Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT 2014/09/27
50.
A reappraisal of muscle biopsy morphological data in X-linked myotubular
myopathy. 2012/09/07
51.
Xq11.1 nullisomy including ARHGEF9 2011/08/12
Display 5 items
Display all(51)
■
Academic society memberships
1.
2011~
World Muscle Society
■
Education
1.
2010/04~2014/03
〔Doctoral course〕, Faculty of Medicine, Tokyo Women's Medical University, Completed,