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Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

Human molecular genetics, 2018-04, Vol.27 (8), p.1421-1433

2018

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Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study

Brain & development (Tokyo. 1979), 2023-08, Vol.45 (7), p.363-371

2023

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Proposal for diagnosis using FLAIR image aimed for pediatric MELAS with recurrent stroke-like episodes on MRI system cannot take ASL imaging

The Gazette of the Egyptian Paediatric Association, 2023-12, Vol.71 (1), p.85-8, Article 85

2023

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Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.106-110

2021

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Early manifestations of BPAN in a pediatric patient

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3095-3099

2014

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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1262-1269

2013

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Benign neonatal sleep myoclonus: Our experience of 15 Japanese cases

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.71-75

2015

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The Babkin Reflex in Infants: Clinical Significance and Neural Mechanism

Pediatric neurology, 2013-09, Vol.49 (3), p.149-155

2013

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Decreased sialylation of IgA1 O‐glycans associated with pneumococcal hemolytic uremic syndrome

Pediatrics international, 2013-12, Vol.55 (6), p.e143-e145

2013

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Time course of serum neuron‐specific enolase levels from infancy to early adulthood in a female patient with beta‐propeller protein‐associated neurodegeneration

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1384-1387

2023

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Characterization of the neurological diseases associated with Mycoplasma pneumoniae infection and anti-glycolipid antibodies

Journal of neurology, 2017-03, Vol.264 (3), p.467-475

2017

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Cyclophosphamide pulse therapy effective for childhood-onset refractory multiple sclerosis: a case report

No to hattatsu, 2013-01, Vol.45 (1), p.49

2013

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Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study

Journal of the neurological sciences, 2024-02, Vol.457, p.122867-122867, Article 122867

2024

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Early infancy‐onset stimulation‐induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency

Epileptic disorders, 2018-02, Vol.20 (1), p.42-50

2018

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Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome

Seizure (London, England), 2014-10, Vol.23 (9), p.703-707

2014

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Decreased sialylation of IgA1O-glycans associated with pneumococcal hemolytic uremic syndrome

Pediatrics international, 2013-12, Vol.55 (6), p.e143-e145

2013

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Ictal 99m Tc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

Child neurology open, 2015-09, Vol.2 (3), p.2329048X15595818

2015

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Ictal 99mTc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

Child neurology open, 2015-07, Vol.2 (3), p.2329048X15595818-2329048X15595818

2015

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Successful treatment with intravenous steroid pulse therapy of a boy with recurrent idiopathic sixth nerve palsy

No to hattatsu, 2014-07, Vol.46 (4), p.287

2014

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Evaluation of six cases with hypothalamic hamartoma: the relationship between MRI findings and clinical features

No to hattatsu, 2014-11, Vol.46 (6), p.419

2014

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Effects of botulinum toxin therapy for respiratory distress in patients with cervical hypertonia

No to hattatsu, 2012-01, Vol.44 (1), p.13

2012

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Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome

Pediatrics International, 2013, Vol.55 (6), p.e143-e145

2013

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Atezolizumab plus Bevacizumab in Unresectable Hepatocellular Carcinoma

The New England journal of medicine, 2020-05, Vol.382 (20), p.1894-1905

2020

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Nivolumab in advanced hepatocellular carcinoma: Sorafenib-experienced Asian cohort analysis

Journal of hepatology, 2019-09, Vol.71 (3), p.543-552

2019

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Patient-reported outcomes with atezolizumab plus bevacizumab versus sorafenib in patients with unresectable hepatocellular carcinoma (IMbrave150): an open-label, randomised, phase 3 trial

The lancet oncology, 2021-07, Vol.22 (7), p.991-1001

2021

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Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study

Proposal for diagnosis using FLAIR image aimed for pediatric MELAS with recurrent stroke-like episodes on MRI system cannot take ASL imaging

Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy

Early manifestations of BPAN in a pediatric patient

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Benign neonatal sleep myoclonus: Our experience of 15 Japanese cases

The Babkin Reflex in Infants: Clinical Significance and Neural Mechanism

Decreased sialylation of IgA1 O‐glycans associated with pneumococcal hemolytic uremic syndrome

Time course of serum neuron‐specific enolase levels from infancy to early adulthood in a female patient with beta‐propeller protein‐associated neurodegeneration

Characterization of the neurological diseases associated with Mycoplasma pneumoniae infection and anti-glycolipid antibodies

Cyclophosphamide pulse therapy effective for childhood-onset refractory multiple sclerosis: a case report

Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study

Early infancy‐onset stimulation‐induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency

Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome

Decreased sialylation of IgA1O-glycans associated with pneumococcal hemolytic uremic syndrome

Ictal 99m Tc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

Ictal 99mTc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

Successful treatment with intravenous steroid pulse therapy of a boy with recurrent idiopathic sixth nerve palsy

Evaluation of six cases with hypothalamic hamartoma: the relationship between MRI findings and clinical features

Effects of botulinum toxin therapy for respiratory distress in patients with cervical hypertonia

Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome

Atezolizumab plus Bevacizumab in Unresectable Hepatocellular Carcinoma

Nivolumab in advanced hepatocellular carcinoma: Sorafenib-experienced Asian cohort analysis

Patient-reported outcomes with atezolizumab plus bevacizumab versus sorafenib in patients with unresectable hepatocellular carcinoma (IMbrave150): an open-label, randomised, phase 3 trial

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