Faculty Information - SHICHIJI Minobu

（Last updated : 2025-06-11 12:51:25）

SHICHIJI Minobu
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Assistant Professor

■ Published papers

1.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
2.	Original article	Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy 2025/05/28
3.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
4.	Original article	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
5.	Original article	The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy 2024/01/23
6.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
7.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
8.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
9.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
10.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
11.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
12.	Original article	Extensive morphological and immunohistochemical characterization in myotubular myopathy 2013/05/06
13.	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
14.	Original article	CDKL5 alterations lead to early epileptic encephalopathy in both genders. 2011/10
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■ Academic conference presentation

1.	An observational study to assess biomarkers in patients with Duchenne musular dystrophy （口頭，一般） 2025/06/07
2.	Two boys with X-linked myotubular myopathy(XLMTM) with findings of peliosis hepatis after infancy （口頭，一般） 2025/06/07
3.	Intractable case of generalized myasthenia gravis with transient improvement by Eculizumab （ポスター掲示，一般） 2025/06/06
4.	Study of Motor and Respiratory Function in Ullrich Congenital Muscular Dystrophy （口頭，一般） 2025/06/05
5.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （ポスター掲示，一般） 2024/10/12
6.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy （口頭，一般） 2024/06/01
7.	Survey of COVID-19-affected neuromuscular disease patients in Japan （口頭，一般） 2024/05/30
8.	Complications in patients with congenital myotonic dystrophy: data from a nationwide myotonic dystrophy registry. （ポスター掲示，一般） 2024/04/10
9.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. （ポスター掲示，一般） 2024/03/15
10.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （ポスター掲示，一般） 2023/10/14
11.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) （ポスター掲示，一般） 2023/10/06
12.	Sleep disorders in Fukuyama congenital muscular distrophy （口頭，一般） 2023/05/27
13.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) （口頭，一般） 2023/05/27
14.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance （ポスター掲示，一般） 2023/05/26
15.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease （口頭，一般） 2023/05/26
16.	An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy （口頭，一般） 2023/05/25
17.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （口頭，一般） 2023/04/16
18.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2022/10/14
19.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （口頭，一般） 2022/08/27
20.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （口頭，一般） 2022/06/03
21.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) （口頭，一般） 2022/06/03
22.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD （口頭，一般） 2022/06/03
23.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （口頭，一般） 2021/08/28
24.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness （ポスター掲示，一般） 2021/05/29
25.	Correlation between BNP and NT-proBNP in muscular dystrophy （口頭，一般） 2021/05/28
26.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （口頭，一般） 2021/05/28
27.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （口頭，一般） 2021/05/28
28.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （ポスター掲示，一般） 2020/08/19
29.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy （口頭，一般） 2020/08/19
30.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients （口頭，一般） 2020/08/19
31.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance （口頭，一般） 2020/08/19
32.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry （ポスター掲示，一般） 2019/10/04
33.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2019/10/04
34.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan （ポスター掲示，一般） 2019/10/02
35.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies （ポスター掲示，一般） 2019/10/02
36.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease （口頭，シンポジウム・ワークショップパネル（指名）） 2019/07/13
37.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy （口頭，一般） 2019/06/01
38.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
39.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
40.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
41.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV （口頭，一般） 2018/06/02
42.	Care and prevention of foot disorders in Bethelm myopathy patients （ポスター掲示，一般） 2018/06/01
43.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease （口頭，特別講演・招待講演など） 2018/06/01
44.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy （口頭，一般） 2018/05/31
45.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family （口頭，一般） 2018/05/31
46.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy （口頭，一般） 2017/10/14
47.	A Japanese nationwide survey on congenital myotonic dystrophy （ポスター掲示，一般） 2017/05/13
48.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study （ポスター掲示，一般） 2017/05/13
49.	Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2017/05/13
50.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2017/05/13
51.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients （口頭，一般） 2016/06/03
52.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan （ポスター掲示，一般） 2016/06/03
53.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care （ポスター掲示，一般） 2016/06/03
54.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy （口頭，一般） 2016/06/03
55.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2016/06/03
56.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2014/10/09
57.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory （ポスター掲示，一般） 2014/10/07
58.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT （ポスター掲示，一般） 2014/09/27
59.	A reappraisal of muscle biopsy morphological data in X-linked myotubular myopathy. （ポスター掲示，一般） 2012/09/07
60.	Xq11.1 nullisomy including ARHGEF9 （ポスター掲示，一般） 2011/08/12
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■ Academic society memberships

2011～

World Muscle Society

■ Education

2010/04～2014/03

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