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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Journal of human genetics, 2019-08, Vol.64 (8), p.741-755

2019

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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

Journal of human genetics, 2013-08, Vol.58 (8), p.548-552

2013

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Characteristics of selective motor control of the lower extremity in adults with bilateral spastic cerebral palsy

Journal of Physical Therapy Science, 2020, Vol.32(5), pp.348-351

2020

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De novo KCNT1 mutations in early‐onset epileptic encephalopathy

Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.e121-e128

2015

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Shaking table tests of a full‐scale 10‐story reinforced‐concrete building (2015). Phase II: Seismic resisting system

Earthquake engineering & structural dynamics, 2023-05, Vol.52 (6), p.1932-1955

2023

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Characteristics of selective motor control of the lower extremity in adults with bilateral spastic cerebral palsy

Journal of Physical Therapy Science, 2020, Vol.32 (5), p.348-351

2020

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Current status of newborn screening for Pompe disease in Japan

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.516-516, Article 516

2021

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E-Defense Shake Table Experiments Implemented by NIED and Collaborative Research Projects in 2005–2022

Journal of disaster research, 2023-08, Vol.18 (5), p.492-512

2023

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Infant with accidental ingestion of heated tobacco

Journal of the American College of Emergency Physicians Open, 2023-06, Vol.4 (3), p.e12959-n/a

2023

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Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy: a cross-sectional study

Journal of Physical Therapy Science, 2021, Vol.33(7), pp.544-548

2021

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Newborn screening for Fabry disease in the western region of Japan

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100562-100562, Article 100562

2020

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Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101003-101003, Article 101003

2023

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Afadin regulates puncta adherentia junction formation and presynaptic differentiation in hippocampal neurons

PloS one, 2014-02, Vol.9 (2), p.e89763-e89763

2014

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Newborn screening for Gaucher disease in Japan

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100850-100850, Article 100850

2022

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Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

Epilepsia (Copenhagen), 2004-02, Vol.45 (2), p.140-148

2004

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Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy : a cross-sectional study

Journal of Physical Therapy Science, 2021, Vol.33 (7), p.544-548

2021

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PCDH19 -related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

Epilepsy research, 2013-09, Vol.106 (1), p.191-199

2013

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Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

Pediatrics international, 2014-08, Vol.56 (4), p.e26-e29

2014

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Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Congenital anomalies, 2020-11, Vol.60 (6), p.189-193

2020

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Inhibition of char deposition using a particle bed in heating section of supercritical water gasification

Korean Journal of Chemical Engineering, 2016, 33(4), 193, pp.1261-1266

2016

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Nectin-1 spots regulate the branching of olfactory mitral cell dendrites

Molecular and cellular neuroscience, 2015-09, Vol.68, p.143-150

2015

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Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy

Brain & development (Tokyo. 1979), 2014-08, Vol.36 (7), p.613-619

2014

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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication

Journal of human genetics, 2012-09, Vol.57 (9), p.580-586

2012

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Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Brain & development (Tokyo. 1979), 2013-06, Vol.35 (6), p.524-530

2013

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Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

Epilepsia (Copenhagen), 2008-09, Vol.49 (9), p.1528-1534

2008

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

Characteristics of selective motor control of the lower extremity in adults with bilateral spastic cerebral palsy

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

Shaking table tests of a full‐scale 10‐story reinforced‐concrete building (2015). Phase II: Seismic resisting system

Characteristics of selective motor control of the lower extremity in adults with bilateral spastic cerebral palsy

Current status of newborn screening for Pompe disease in Japan

E-Defense Shake Table Experiments Implemented by NIED and Collaborative Research Projects in 2005–2022

Infant with accidental ingestion of heated tobacco

Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy: a cross-sectional study

Newborn screening for Fabry disease in the western region of Japan

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Afadin regulates puncta adherentia junction formation and presynaptic differentiation in hippocampal neurons

Newborn screening for Gaucher disease in Japan

Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy : a cross-sectional study

PCDH19 -related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Inhibition of char deposition using a particle bed in heating section of supercritical water gasification

Nectin-1 spots regulate the branching of olfactory mitral cell dendrites

Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

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