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Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.93-13, Article 93

2018

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Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Scientific reports, 2022-08, Vol.12 (1), p.13263-13263, Article 13263

2022

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Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Scientific reports, 2021-12, Vol.11 (1), p.24229-24229, Article 24229

2021

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Automatic calculation of Mercuri grades from CT and MR muscle images

Brain & development (Tokyo. 1979), 2019-11, Vol.41 (10), p.870-877

2019

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Spinal cord findings in a long-term survivor of Duchenne muscular dystrophy

Human Pathology Reports, 2024-09, Vol.37, p.300759, Article 300759

2024

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A short form of gross motor function measure for Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2020-05, Vol.42 (5), p.383-388

2020

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Characteristic findings of skeletal muscle MRI in caveolinopathies

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.857-862

2018

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Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2019-01, Vol.41 (1), p.43-49

2019

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The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Neuromuscular disorders : NMD, 2017-01, Vol.27 (1), p.45-49

2017

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Respiratory management of patients with Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2016-03, Vol.38 (3), p.324-330

2016

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Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2012-04, Vol.34 (4), p.293-297

2012

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Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.98-102

2012

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Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis

Brain & development (Tokyo. 1979), 2009-09, Vol.31 (8), p.634-637

2009

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High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.103-106

2012

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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

Brain & development (Tokyo. 1979), 2009-06, Vol.31 (6), p.465-468

2009

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Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Circulation Journal, 2009, Vol.73(1), pp.158-161

2009

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Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy

Neuromuscular disorders : NMD, 2021-03, Vol.31 (3), p.194-197

2021

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Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis

Neuromuscular disorders : NMD, 2019-09, Vol.29 (9), p.671-677

2019

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P2-23-09. Estimation of skeletal muscle in Fukuyama Congenital Muscular Dystrophy using bioelectrical impedance analysis

Clinical neurophysiology, 2019-10, Vol.130 (10), p.e224-e224

2019

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A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

Brain & development (Tokyo. 1979), 2007-05, Vol.29 (4), p.234-238

2007

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National registry of patients with Fukuyama congenital muscular dystrophy in Japan

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.885-893

2018

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GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia

Journal of Tokyo Women's Medical University, 2022/04/25, Vol.92(2), pp.62-66

2022

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Annals of neurology, 2006-11, Vol.60 (5), p.597-602

2006

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精神運動発達遅滞と筋緊張低下を呈し，全エクソームシーケンスにより確定診断に至ったGNAO1異常症の1例

東京女子医科大学雑誌, 2022/04/25, Vol.92(2), pp.62-66

2022

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High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation

Acta neuropathologica, 2010-10, Vol.120 (4), p.537-543

2010

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Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Automatic calculation of Mercuri grades from CT and MR muscle images

Spinal cord findings in a long-term survivor of Duchenne muscular dystrophy

A short form of gross motor function measure for Fukuyama congenital muscular dystrophy

Characteristic findings of skeletal muscle MRI in caveolinopathies

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Respiratory management of patients with Fukuyama congenital muscular dystrophy

Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy

Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis

High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy

Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis

P2-23-09. Estimation of skeletal muscle in Fukuyama Congenital Muscular Dystrophy using bioelectrical impedance analysis

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

National registry of patients with Fukuyama congenital muscular dystrophy in Japan

GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

精神運動発達遅滞と筋緊張低下を呈し，全エクソームシーケンスにより確定診断に至ったGNAO1異常症の1例

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation

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