Faculty Information - SHICHIJI Minobu

（Last updated : 2025-05-01 17:04:54）

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 2025/04/01
2.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
3.	Original article	Cross-sectional Study of the Association between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy. 2024/11
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
Display 5 items
Display all(14)

■ Academic conference presentation

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

■ 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,