Faculty Information - ISHIGAKI Keiko

（Last updated : 2026-03-26 13:51:21）

ISHIGAKI Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Associate Professor

■ Books

1.	Translation	Study of Intraventricular Cerliponase Alfa for CLN2 Disease 2020/01
2.	Chapter contribution	Fukuyama congenital muscular dystrophy:Clinical aspects, Translational Research in Muscular Dystrophy 2018/03/31
3.	Translation	Atopic dermatitis「Pathophysiology made Incredibly Visual!」 2012/03/10

■ Published papers

1.	Case report	New onset of juvenile dermatomyositis after COVID-19 infection in two patients: a case report 2026/03
2.	Review article	Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances 2025/09/05
3.	Original article	Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial 2025/09
4.	Original article	Continuous adipose-derived stem cell therapy from the neonatal stage effectively reduces Duchenne muscular dystrophy symptoms in rats. 2025/08
5.	Original article	Myocardial injury in Duchenne muscular dystrophy: assessment via cardiac magnetic resonance intra-voxel incoherent motion 2025/07/21
6.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
7.	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
8.	Review article	Neuromuscular disorders -Childhood-onset metabolic myopathy,juvenile myasthenia gravis 2025/03/25
9.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
10.	Original article	Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy 2025/01
11.	Original article	Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications 2024/12/17
12.	Case report	Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy. 2024/07
13.	Case report	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
14.	Original article	Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy) 2024/04/30
15.	Original article	The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy 2024/01/23
16.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
17.	Review article	Treatment of Juvenile Myasthenia Gravis 2024/01/01
18.	Original article	Natural history of Becker muscular dystrophy: a multicenter study of 225 patients 2023/12
19.	Review article	Fukuyama congenital muscular dystrophy 2022/12/23
20.	Original article	Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts 2022/05
21.	Review article	Congenital Form and Genetics of Myotonic Dystrophy Type 1 2022/02/18
22.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
23.	Original article	Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy 2021/10/22
24.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
25.	Original article	Study of care practices for patients with myotonic dystrophy in Japan —Nationwide patient survey 2020/02/01
26.	Original article	Study of medical practices for patients with myotonic dystrophy in Japan —Nationwide specialist survey 2020/02/01
27.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
28.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
29.	Case report	National registry of patients with Fukuyama congenital muscular dystrophy in Japan. 2018/10
30.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
31.	Original article	Pneumothorax in patients with severe combined immunodeficiency 2014/08
32.	Original article	Congenital fiber type disproportion myopathy caused by LMNA mutations 2014/05
33.	Original article	Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits 2014/01
34.	Case report	A casse of gastric wall perforation associated with nasogastric intubation in Fukuyama type congenital muscular dystrophy. 2013/04
35.	Case report	Different Responses to Enzyme Replacement Therapy in Two Patients with Childhood-onset Pompe Disease 2013/01
36.	Original article	Identification of a Duplication Breakpoint in the DMD Gene Using Array Comparative Genomic Hybridization 2013/01
37.	Original article	Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy 2013/01
38.	Original article	Long-term and Low-dose Steroid Therapy for Cardiomyopathy in Duchenne Muscular Dystrophy Patients 2013/01
39.	Original article	Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. 2012/04
40.	Original article	Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease 2012/02
41.	Original article	High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease 2012/02
42.	Original article	Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 2011/11
43.	Original article	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. 2010/10
44.	Original article	Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis 2009/09
45.	Original article	Identification of severe combined immunodeficency by T-cell receptor excision circles quantification using neonatal guthrie guthrie cards 2009/07/21
46.	Original article	Modified Atkins diet therapy for a case with glucose transporter type1 deficiency syndrome. 2008
47.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
48.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
49.	Original article	Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy 2006/08
50.	Original article	Creatin monohydrate therapy in a Leigh syndrome patient with A8344G mutation 2006
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■ Academic conference presentation

1.	Clinical aspects of Fukuyama congenital muscular dystrophy （口頭，シンポジウム・ワークショップパネル（その他）） 2013/06/02
2.	Pompe disease Diagnosis and Management Guideline for Japanese （口頭，一般） 2013/06/15
3.	Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2013/10/02
4.	A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom （ポスター掲示，一般） 2025/12/20
5.	De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay （ポスター掲示，一般） 2025/12/20
6.	HyperCKemia caused by a loss-of-function variant in DAG1 （ポスター掲示，一般） 2025/12/20
7.	Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome （ポスター掲示，一般） 2025/12/20
8.	An observational study to assess biomarkers in patients with Duchenne musular dystrophy （口頭，一般） 2025/06/07
9.	Two boys with X-linked myotubular myopathy(XLMTM) with findings of peliosis hepatis after infancy （口頭，一般） 2025/06/07
10.	Intractable case of generalized myasthenia gravis with transient improvement by Eculizumab （ポスター掲示，一般） 2025/06/06
11.	Long-term safety and tolerability of delandistrogene moxeparvovec in DMD : phase 1 to phase 3 clinical trials （口頭，一般） 2025/06/06
12.	Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts （口頭，一般） 2025/06/05
13.	Safety and effetivenss of nipocalimab in adolescent participant in the open label phase 2/3VIBRANCE-MG clinical study （口頭，一般） 2025/06/05
14.	Study of Motor and Respiratory Function in Ullrich Congenital Muscular Dystrophy （口頭，一般） 2025/06/05
15.	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
16.	The diagnsis and treatment of treatable childhood-onset neuromuscular diseases （口頭，シンポジウム・ワークショップパネル（指名）） 2024/09/14
17.	A Phase 1 Study of Antisense Oligonucleotide NS-035 in Patients with Fukuyama Congenital Muscular Dystrophy （口頭，一般） 2024/09/13
18.	A real-world survey on the treatment patterns and neurologist treatment satisfaction for Duchenne muscular dystrophy patients in Japan （ポスター掲示，一般） 2024/09/13
19.	Multidisciplinay Approach to Muscular Dystrophy Management Motor Function Assessment in the Treatment of Muscular Dystrophy （口頭，シンポジウム・ワークショップパネル（指名）） 2024/09/13
20.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy （口頭，一般） 2024/06/01
21.	Notes on using the guidelines of juvenile myasthenia gravis （口頭，シンポジウム・ワークショップパネル（指名）） 2024/05/31
22.	Patient Registry and Therapeutic Development for Fukuyama Congenital Muscular Dystrophy （口頭，シンポジウム・ワークショップパネル（指名）） 2024/05/30
23.	Survey of COVID-19-affected neuromuscular disease patients in Japan （口頭，一般） 2024/05/30
24.	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
25.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. （ポスター掲示，一般） 2024/03/15
26.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （ポスター掲示，一般） 2023/10/14
27.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) （ポスター掲示，一般） 2023/10/06
28.	Sleep disorders in Fukuyama congenital muscular distrophy （口頭，一般） 2023/05/27
29.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) （口頭，一般） 2023/05/27
30.	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
31.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease （口頭，一般） 2023/05/26
32.	An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy （口頭，一般） 2023/05/25
33.	Treaatment of Childhood Myasthenia Gravis:Experiences and Messages （口頭，シンポジウム・ワークショップパネル（指名）） 2023/05/25
34.	Treaatment Strategies for childhood-onset myasthenia gravis ーMessage from MG Practice Guidelines 2022ー（口頭，シンポジウム・ワークショップパネル（指名）） 2023/05/25
35.	Basics of Skeletal Muscle Imaging and how to use it （口頭，シンポジウム・ワークショップパネル（指名）） 2023/05/24
36.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise （ポスター掲示，一般） 2023/04/16
37.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （口頭，一般） 2023/04/16
38.	Transition to New-generation Enzyme Replacement Therapy for Pompe disease in Japan （口頭，シンポジウム・ワークショップパネル（指名）） 2023/03/31
39.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation （口頭，一般） 2022/12/17
40.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2022/10/14
41.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （口頭，一般） 2022/08/27
42.	Practical diagnosis and therapeutic development of treatable neuromuscular diseases ーPompe diseaseー（口頭，特別講演・招待講演など） 2022/06/04
43.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （口頭，一般） 2022/06/03
44.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) （口頭，一般） 2022/06/03
45.	Efficacy of long-term TRH therapy in a patient with juvenile Alexander disease （ポスター掲示，一般） 2022/06/03
46.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD （口頭，一般） 2022/06/03
47.	Recent research of new therapeutics for patients with Fukuyama congenital muscular dystrophy （口頭，シンポジウム・ワークショップパネル（指名）） 2022/06/03
48.	The technique in making diagnosis of treatable neuromuromuscular diseases in dsily clinical practice （口頭，シンポジウム・ワークショップパネル（指名）） 2022/04/16
49.	Current status of genetic medicine for myotonic dystrophy: A Survey of medical geneticists and Liaison Council （ポスター掲示，一般） 2021/10/15
50.	Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebllar atrophy （ポスター掲示，一般） 2021/10/14
51.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （口頭，一般） 2021/08/28
52.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness （ポスター掲示，一般） 2021/05/29
53.	Case of Thymectomy in a pediatric patient with Myasthenia Gravis （ポスター掲示，一般） 2021/05/29
54.	My choice for medical research ーTo bridge basic and clinical research fieldsー（口頭，シンポジウム・ワークショップパネル（指名）） 2021/05/29
55.	Correlation between BNP and NT-proBNP in muscular dystrophy （口頭，一般） 2021/05/28
56.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （口頭，一般） 2021/05/28
57.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （口頭，一般） 2021/05/28
58.	The chaiienges of gene therapy in clinical settings （口頭，シンポジウム・ワークショップパネル（指名）） 2021/05/28
59.	Development of new therapeutic strategies and second-generation enzyme replacement therapy for Pompe diseasa （口頭，シンポジウム・ワークショップパネル（指名）） 2021/05/27
60.	Features of patients with treatable neuromuscular diseases as images （口頭，特別講演・招待講演など） 2021/05/27
61.	Early diagnosis and assessment of Duchenne muscular dystrophy （口頭，シンポジウム・ワークショップパネル（指名）） 2021/04/16
62.	Early diagnosis and adequate care of respiratory muscle involvement in Neuromuscular diseases （口頭，シンポジウム・ワークショップパネル（指名）） 2020/09/30
63.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （ポスター掲示，一般） 2020/08/19
64.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy （口頭，一般） 2020/08/19
65.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients （口頭，一般） 2020/08/19
66.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance （口頭，一般） 2020/08/19
67.	Recent advances in skeletal muscle imaging for neuromuscular diseases （口頭，シンポジウム・ワークショップパネル（指名）） 2020/08/18
68.	The pitfalls of diagnosis for childhood-onset muscular diseases （口頭，シンポジウム・ワークショップパネル（指名）） 2020/08/18
69.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry （ポスター掲示，一般） 2019/10/04
70.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2019/10/04
71.	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
72.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies （ポスター掲示，一般） 2019/10/02
73.	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
74.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy （口頭，一般） 2019/06/01
75.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
76.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
77.	Toward an ideal transition system for patients with hereditary neuromuscuiar diseases from pediatric to adult care （口頭，シンポジウム・ワークショップパネル（指名）） 2019/05/31
78.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （口頭，一般） 2019/05/31
79.	Challenging cases II （口頭，シンポジウム・ワークショップパネル（指名）） 2018/09/15
80.	Fukuyama congenital muscular dystrophy. （口頭，シンポジウム・ワークショップパネル（指名）） 2018/06/15
81.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV （口頭，一般） 2018/06/02
82.	Care and prevention of foot disorders in Bethelm myopathy patients （ポスター掲示，一般） 2018/06/01
83.	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
84.	Recent progress in congenital muscular dystrophy （口頭，シンポジウム・ワークショップパネル（指名）） 2018/06/01
85.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy （口頭，一般） 2018/05/31
86.	Support for patients with neuromuscular disorders in the transition from pediatric to adult care （ポスター掲示，シンポジウム・ワークショップパネル（指名）） 2018/05/31
87.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family （口頭，一般） 2018/05/31
88.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy （口頭，一般） 2017/10/14
89.	Persistent HyperCKemia-Just watch and wait? What is theoptimal diagnostic approach to hyper CK emia? （口頭，シンポジウム・ワークショップパネル（指名）） 2017/06/15
90.	A Japanese nationwide survey on congenital myotonic dystrophy （ポスター掲示，一般） 2017/05/13
91.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study （ポスター掲示，一般） 2017/05/13
92.	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
93.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2017/05/13
94.	Advances in skeletal muscular imaging as diagnostic tools for neuromuscular diseases （口頭，シンポジウム・ワークショップパネル（指名）） 2016/06/05
95.	The technique in making a diagnosis of myopathy in daily clinical practice （口頭，シンポジウム・ワークショップパネル（指名）） 2016/06/04
96.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients （口頭，一般） 2016/06/03
97.	Diagnosis and prognosis of the neurometabolic diseases among our department （ポスター掲示，一般） 2016/06/03
98.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan （ポスター掲示，一般） 2016/06/03
99.	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
100.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy （口頭，一般） 2016/06/03
101.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2016/06/03
102.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2014/10/09
103.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2014/10/09
104.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2014/10/09
105.	A new index of muscle development and disease progression for the pediatric patients with Duchenne muscular dystrophy, using bioelectrical impedance analysis: An observation study （ポスター掲示，一般） 2014/10/08
106.	A new index of muscle development and disease progression for the pediatric patients with Fukuyama congenital muscular dystrophy, using bioelectrical impedance analysis; an observation study （ポスター掲示，一般） 2014/10/08
107.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory （ポスター掲示，一般） 2014/10/07
108.	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
109.	Non-classic IOPD ~Non-classic IOPD or severe childhood-onset PD?~ （口頭，特別講演・招待講演など） 2014/05/17
110.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations （ポスター掲示，一般） 2013/11/06
111.	Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2013/10/02
112.	Steroid Treatment for exacerbation of muscle weakness after viral infection in Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2013/10/02
113.	Difficult case for consultation in Japan （口頭，一般） 2013/06/16
114.	Fiber type disproportion caused by LMNA mutations （ポスター掲示，一般） 2012/10/09
115.	Low-dose steroid therapy for cardiomyopathy in Duchenne Muscular Dystrophy patients （ポスター掲示，一般） 2012/10/09
116.	Scoliosis in Fukuyama congenital muscular dystrophy(FCMD) patients （ポスター掲示，一般） 2012/10/09
117.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. （ポスター掲示，一般） 2012/09/07
118.	Skeleta muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy (ERT) （ポスター掲示，一般） 2012/09/07
119.	Pompe Disease Profile in Japan （口頭，シンポジウム・ワークショップパネル（指名）） 2012/06/24
120.	Skeletal Muscle CT images in a family with hypokalemic periodic paralysis showing variable muscle involvement （ポスター掲示，一般） 2012/05/31
121.	Treatable Rare Diseases should not be Overlooked 3. Pompe Disease （口頭，シンポジウム・ワークショップパネル（指名）） 2012/04/21
122.	Efficacy of low-dose steroid therapy for scoliosis in patients with Duchenne muscular dystrophy （ポスター掲示，一般） 2011/10/21
123.	Longitudinal study of skeletal muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy(ERT) （ポスター掲示，一般） 2011/10/20
124.	Refractory and severe status epileptics in a patient with ring chromosome 20 syndrome （ポスター掲示，一般） 2011/10/06
125.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. （口頭，一般） 2011/09/07
126.	Selection of isotonic saline as initial parenteral fluid therapy for children with either of high fever, vomiting and dyspnea （口頭，一般） 2011/06/02
127.	High density of skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacules in childhood-onset Pompe disease （口頭，一般） 2010/11/19
128.	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation （口頭，一般） 2010/10/23
129.	Severe muscle damage following viral infection in patients with Fukuyama congental muscular dystrophy （口頭，シンポジウム・ワークショップパネル（その他）） 2010/10/23
130.	Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy （ポスター掲示，一般） 2010/10/12
131.	Severe muscle damage following viral infection in patients with Fukuyama type congenital muscular dystrophy(FCMD) （ポスター掲示，一般） 2010/10/12
132.	The efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease over two years （口頭，シンポジウム・ワークショップパネル（指名）） 2009/10/11
133.	Specific finding of high-density changes on skeletal muscle CT scan in childhood-onset Pompe disease （一般） 2009/09/25
134.	High density on skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease （口頭，シンポジウム・ワークショップパネル（指名）） 2009/09/10
135.	Congenital myasthenic syndrome in Japan （口頭，シンポジウム・ワークショップパネル（指名）） 2007/12/15
136.	Fukuyama congenital muscular dystrophy: Rhabdomyolysis induced by viral infection. （口頭，シンポジウム・ワークショップパネル（指名）） 2007/12/15
137.	initial efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease （口頭，シンポジウム・ワークショップパネル（指名）） 2007/11/29
138.	The utility of skeletal muscle CT scan in childhood-onset Pompe disease （ポスター掲示，一般） 2007/10/18
139.	The First Japanese Patient with Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency （口頭，一般） 2007/01/24
140.	Congenital myasthenic syndrome caused by decreased receptor channel openings due to novel mutation in the nicotinic acetylcholine receptor epsilon-subunit （口頭，一般） 2005/09/28
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■ Education

1.	1998/04～2002/01	〔Doctoral course〕〔Doctorial Course〕 Pediatrics, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
2.	1992/04～1998/03	Faculty of Medicine, Tokyo Women's Medical University, Graduated,