Faculty Information - Shichiji Minobu

（Last updated : 2024-11-05 17:54:48）

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
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■ Academic conference presentation

1.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait 2024/10/12
2.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy 2024/06/01
3.	Survey of COVID-19-affected neuromuscular disease patients in Japan 2024/05/30
4.	Complications in patients with congenital myotonic dystrophy: data from a nationwide myotonic dystrophy registry. 2024/04/10
5.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. 2024/03/15
6.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2023/10/14
7.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) 2023/10/06
8.	Sleep disorders in Fukuyama congenital muscular distrophy 2023/05/27
9.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) 2023/05/27
10.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance 2023/05/26
11.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease 2023/05/26
12.	An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy 2023/05/25
13.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2023/04/16
14.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/10/14
15.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/06/03
16.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) 2022/06/03
17.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD 2022/06/03
18.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/08/28
19.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness 2021/05/29
20.	Correlation between BNP and NT-proBNP in muscular dystrophy 2021/05/28
21.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2021/05/28
22.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/05/28
23.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant 2020/08/19
24.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy 2020/08/19
25.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients 2020/08/19
26.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance 2020/08/19
27.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry 2019/10/04
28.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/10/04
29.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan 2019/10/02
30.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies 2019/10/02
31.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease 2019/07/13
32.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy 2019/06/01
33.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy 2019/05/31
34.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy 2019/05/31
35.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/05/31
36.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV 2018/06/02
37.	Care and prevention of foot disorders in Bethelm myopathy patients 2018/06/01
38.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease 2018/06/01
39.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy 2018/05/31
40.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family 2018/05/31
41.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy 2017/10/14
42.	A Japanese nationwide survey on congenital myotonic dystrophy 2017/05/13
43.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study 2017/05/13
44.	Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy 2017/05/13
45.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy 2017/05/13
46.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients 2016/06/03
47.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan 2016/06/03
48.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care 2016/06/03
49.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy 2016/06/03
50.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy 2016/06/03
51.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy 2014/10/09
52.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory 2014/10/07
53.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT 2014/09/27
54.	A reappraisal of muscle biopsy morphological data in X-linked myotubular myopathy. 2012/09/07
55.	Xq11.1 nullisomy including ARHGEF9 2011/08/12
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■ Academic society memberships

2011～

World Muscle Society

■ Education

2010/04～2014/03

〔Doctoral course〕, Faculty of Medicine, Tokyo Women's Medical University, Completed,