Faculty Information - Ishigaki Keiko

（Last updated : 2024-11-20 15:52:32）

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「The New England Jornal of Medicine（日本国内版）」 2020/01
2.	Chapter contribution	Fukuyama congenital muscular dystrophy:Clinical aspects, Translational Research in Muscular Dystrophy 2018/03/31
3.	Translation	Atopic dermatitis「超ビジュアル　病態生理学」 2012/03/10

■ Published papers

1.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
2.	Review article	Fukuyama congenital muscular dystrophy 2022/12/23
3.	Original article	Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts 2022/05
4.	Review article	Congenital Form and Genetics of Myotonic Dystrophy Type 1 2022/02/18
5.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
6.	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
7.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
8.	Original article	Study of care practices for patients with myotonic dystrophy in Japan —Nationwide patient survey 2020/02/01
9.	Original article	Study of medical practices for patients with myotonic dystrophy in Japan —Nationwide specialist survey 2020/02/01
10.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
11.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
12.	Case report	National registry of patients with Fukuyama congenital muscular dystrophy in Japan. 2018/10
13.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
14.	Original article	Pneumothorax in patients with severe combined immunodeficiency 2014/08
15.	Original article	Congenital fiber type disproportion myopathy caused by LMNA mutations 2014/05
16.	Original article	Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits 2014/01
17.	Case report	A casse of gastric wall perforation associated with nasogastric intubation in Fukuyama type congenital muscular dystrophy. 2013/04
18.	Case report	Different Responses to Enzyme Replacement Therapy in Two Patients with Childhood-onset Pompe Disease 2013/01
19.	Original article	Identification of a Duplication Breakpoint in the DMD Gene Using Array Comparative Genomic Hybridization 2013/01
20.	Original article	Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy 2013/01
21.	Original article	Long-term and Low-dose Steroid Therapy for Cardiomyopathy in Duchenne Muscular Dystrophy Patients 2013/01
22.	Original article	Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. 2012/04
23.	Original article	Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease 2012/02
24.	Original article	High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease 2012/02
25.	Original article	Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 2011/11
26.	Original article	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. 2010/10
27.	Original article	Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis 2009/09
28.	Original article	Identification of severe combined immunodeficency by T-cell receptor excision circles quantification using neonatal guthrie guthrie cards 2009/07/21
29.	Original article	Modified Atkins diet therapy for a case with glucose transporter type1 deficiency syndrome. 2008
30.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
31.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
32.	Original article	Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy 2006/08
33.	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 2013/06/02
2.	Pompe disease Diagnosis and Management Guideline for Japanese 2013/06/15
3.	Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy 2013/10/02
4.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait 2024/10/12
5.	The diagnsis and treatment of treatable childhood-onset neuromuscular diseases 2024/09/14
6.	A Phase 1 Study of Antisense Oligonucleotide NS-035 in Patients with Fukuyama Congenital Muscular Dystrophy 2024/09/13
7.	A real-world survey on the treatment patterns and neurologist treatment satisfaction for Duchenne muscular dystrophy patients in Japan 2024/09/13
8.	Multidisciplinay Approach to Muscular Dystrophy Management Motor Function Assessment in the Treatment of Muscular Dystrophy 2024/09/13
9.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy 2024/06/01
10.	Notes on using the guidelines of juvenile myasthenia gravis 2024/05/31
11.	Patient Registry and Therapeutic Development for Fukuyama Congenital Muscular Dystrophy 2024/05/30
12.	Survey of COVID-19-affected neuromuscular disease patients in Japan 2024/05/30
13.	Complications in patients with congenital myotonic dystrophy: data from a nationwide myotonic dystrophy registry. 2024/04/10
14.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. 2024/03/15
15.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2023/10/14
16.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) 2023/10/06
17.	Sleep disorders in Fukuyama congenital muscular distrophy 2023/05/27
18.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) 2023/05/27
19.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance 2023/05/26
20.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease 2023/05/26
21.	An Observational Study to Assess Biomarkers in Patients with Duchenne Muscular Dystrophy 2023/05/25
22.	Treaatment of Childhood Myasthenia Gravis:Experiences and Messages 2023/05/25
23.	Treaatment Strategies for childhood-onset myasthenia gravis ーMessage from MG Practice Guidelines 2022ー 2023/05/25
24.	Basics of Skeletal Muscle Imaging and how to use it 2023/05/24
25.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise 2023/04/16
26.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2023/04/16
27.	Transition to New-generation Enzyme Replacement Therapy for Pompe disease in Japan 2023/03/31
28.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation 2022/12/17
29.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/10/14
30.	Practical diagnosis and therapeutic development of treatable neuromuscular diseases ーPompe diseaseー 2022/06/04
31.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/06/03
32.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) 2022/06/03
33.	Efficacy of long-term TRH therapy in a patient with juvenile Alexander disease 2022/06/03
34.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD 2022/06/03
35.	Recent research of new therapeutics for patients with Fukuyama congenital muscular dystrophy 2022/06/03
36.	The technique in making diagnosis of treatable neuromuromuscular diseases in dsily clinical practice 2022/04/16
37.	Current status of genetic medicine for myotonic dystrophy: A Survey of medical geneticists and Liaison Council 2021/10/15
38.	Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebllar atrophy 2021/10/14
39.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/08/28
40.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness 2021/05/29
41.	Case of Thymectomy in a pediatric patient with Myasthenia Gravis 2021/05/29
42.	My choice for medical research ーTo bridge basic and clinical research fieldsー 2021/05/29
43.	Correlation between BNP and NT-proBNP in muscular dystrophy 2021/05/28
44.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2021/05/28
45.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/05/28
46.	The chaiienges of gene therapy in clinical settings 2021/05/28
47.	Development of new therapeutic strategies and second-generation enzyme replacement therapy for Pompe diseasa 2021/05/27
48.	Features of patients with treatable neuromuscular diseases as images 2021/05/27
49.	Early diagnosis and assessment of Duchenne muscular dystrophy 2021/04/16
50.	Early diagnosis and adequate care of respiratory muscle involvement in Neuromuscular diseases 2020/09/30
51.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant 2020/08/19
52.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy 2020/08/19
53.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients 2020/08/19
54.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance 2020/08/19
55.	Recent advances in skeletal muscle imaging for neuromuscular diseases 2020/08/18
56.	The pitfalls of diagnosis for childhood-onset muscular diseases 2020/08/18
57.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry 2019/10/04
58.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/10/04
59.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan 2019/10/02
60.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies 2019/10/02
61.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease 2019/07/13
62.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy 2019/06/01
63.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy 2019/05/31
64.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy 2019/05/31
65.	Toward an ideal transition system for patients with hereditary neuromuscuiar diseases from pediatric to adult care 2019/05/31
66.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/05/31
67.	Challenging cases II 2018/09/15
68.	Fukuyama congenital muscular dystrophy. 2018/06/15
69.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV 2018/06/02
70.	Care and prevention of foot disorders in Bethelm myopathy patients 2018/06/01
71.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease 2018/06/01
72.	Recent progress in congenital muscular dystrophy 2018/06/01
73.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy 2018/05/31
74.	Support for patients with neuromuscular disorders in the transition from pediatric to adult care 2018/05/31
75.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family 2018/05/31
76.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy 2017/10/14
77.	Persistent HyperCKemia-Just watch and wait? What is theoptimal diagnostic approach to hyper CK emia? 2017/06/15
78.	A Japanese nationwide survey on congenital myotonic dystrophy 2017/05/13
79.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study 2017/05/13
80.	Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy 2017/05/13
81.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy 2017/05/13
82.	Advances in skeletal muscular imaging as diagnostic tools for neuromuscular diseases 2016/06/05
83.	The technique in making a diagnosis of myopathy in daily clinical practice 2016/06/04
84.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients 2016/06/03
85.	Diagnosis and prognosis of the neurometabolic diseases among our department 2016/06/03
86.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan 2016/06/03
87.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care 2016/06/03
88.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy 2016/06/03
89.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy 2016/06/03
90.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy 2014/10/09
91.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy 2014/10/09
92.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy 2014/10/09
93.	A new index of muscle development and disease progression for the pediatric patients with Duchenne muscular dystrophy, using bioelectrical impedance analysis: An observation study 2014/10/08
94.	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 2014/10/08
95.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory 2014/10/07
96.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT 2014/09/27
97.	Non-classic IOPD ~Non-classic IOPD or severe childhood-onset PD?~ 2014/05/17
98.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations 2013/11/06
99.	Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy 2013/10/02
100.	Steroid Treatment for exacerbation of muscle weakness after viral infection in Fukuyama congenital muscular dystrophy 2013/10/02
101.	Difficult case for consultation in Japan 2013/06/16
102.	Fiber type disproportion caused by LMNA mutations 2012/10/09
103.	Low-dose steroid therapy for cardiomyopathy in Duchenne Muscular Dystrophy patients 2012/10/09
104.	Scoliosis in Fukuyama congenital muscular dystrophy(FCMD) patients 2012/10/09
105.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. 2012/09/07
106.	Skeleta muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy (ERT) 2012/09/07
107.	Pompe Disease Profile in Japan 2012/06/24
108.	Skeletal Muscle CT images in a family with hypokalemic periodic paralysis showing variable muscle involvement 2012/05/31
109.	Treatable Rare Diseases should not be Overlooked 3. Pompe Disease 2012/04/21
110.	Efficacy of low-dose steroid therapy for scoliosis in patients with Duchenne muscular dystrophy 2011/10/21
111.	Longitudinal study of skeletal muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy(ERT) 2011/10/20
112.	Refractory and severe status epileptics in a patient with ring chromosome 20 syndrome 2011/10/06
113.	Early progression of respiratory failure in a young firl with autosomal dominant Emery-Dreifuss muscular dystrophy. 2011/09/07
114.	Selection of isotonic saline as initial parenteral fluid therapy for children with either of high fever, vomiting and dyspnea 2011/06/02
115.	High density of skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacules in childhood-onset Pompe disease 2010/11/19
116.	High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation 2010/10/23
117.	Severe muscle damage following viral infection in patients with Fukuyama congental muscular dystrophy 2010/10/23
118.	Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy 2010/10/12
119.	Severe muscle damage following viral infection in patients with Fukuyama type congenital muscular dystrophy(FCMD) 2010/10/12
120.	The efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease over two years 2009/10/11
121.	Specific finding of high-density changes on skeletal muscle CT scan in childhood-onset Pompe disease 2009/09/25
122.	High density on skeletal muscle CT imaging indicates accumulation of calcium in autophagic vacuoles in childhood-onset Pompe disease 2009/09/10
123.	Congenital myasthenic syndrome in Japan 2007/12/15
124.	Fukuyama congenital muscular dystrophy: Rhabdomyolysis induced by viral infection. 2007/12/15
125.	initial efficacy of enzyme replacement therapy for a patient with childhood-onset Pompe disease 2007/11/29
126.	The utility of skeletal muscle CT scan in childhood-onset Pompe disease 2007/10/18
127.	The First Japanese Patient with Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency 2007/01/24
128.	Congenital myasthenic syndrome caused by decreased receptor channel openings due to novel mutation in the nicotinic acetylcholine receptor epsilon-subunit 2005/09/28
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■ Education

1.	1998/04～2002/01	〔Doctoral 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,