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Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster

International journal of molecular sciences, 2020-09, Vol.21 (17), p.6442

2020

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Application of induced pluripotent stem cells in epilepsy

Molecular and cellular neuroscience, 2020-10, Vol.108, p.103535-103535, Article 103535

2020

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Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid

Brain & development (Tokyo. 1979), 2020-03, Vol.42 (3), p.311-314

2020

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Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons

Human molecular genetics, 2021-06, Vol.30 (14), p.1337-1348

2021

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Low‐grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment

Pediatrics international, 2021-11, Vol.63 (11), p.1327-1333

2021

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Quantitative pretreatment EEG predicts efficacy of ACTH therapy in infantile epileptic spasms syndrome

Clinical neurophysiology, 2022-12, Vol.144, p.83-90

2022

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Increased levels of plasma total tau in adult Down syndrome

PloS one, 2017-11, Vol.12 (11), p.e0188802-e0188802

2017

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Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients

PloS one, 2019-04, Vol.14 (4), p.e0211575-e0211575

2019

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Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.294-302

2021

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Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Brain & development (Tokyo. 1979), 2020-01, Vol.42 (1), p.69-72

2020

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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

Human genome variation, 2024-02, Vol.11 (1), p.9-9, Article 9

2024

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Luteolin attenuates interleukin-6-mediated astrogliosis in human iPSC-derived neural aggregates: A candidate preventive substance for maternal immune activation-induced abnormalities

Neuroscience letters, 2017-07, Vol.653, p.296-301

2017

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Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Human genome variation, 2021-01, Vol.8 (1), p.4-4, Article 4

2021

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Lumbosacral polyradiculopathy after intrathecal chemotherapy in pediatric acute lymphoblastic leukemia

International journal of hematology, 2018-05, Vol.107 (5), p.499-501

2018

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Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

Human genome variation, 2022-03, Vol.9 (1), p.8-8, Article 8

2022

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Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.760-768

2019

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Cerebellar peduncle injury predicts motor impairments in preterm infants: A quantitative tractography study at term-equivalent age

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.743-752

2018

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Development of Corpus Callosum in Preterm Infants Is Affected by the Prematurity: In Vivo Assessment of Diffusion Tensor Imaging at Term-Equivalent Age

Pediatric research, 2011-03, Vol.69 (3), p.249-254

2011

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Longitudinal change in white matter in preterm infants without magnetic resonance imaging abnormalities: Assessment of serial diffusion tensor imaging and their relationship to neurodevelopmental outcomes

Brain & development (Tokyo. 1979), 2017-01, Vol.39 (1), p.40-47

2017

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Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

Human molecular genetics, 2009-02, Vol.18 (4), p.621-631

2009

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Effects of chemotherapy on the brain in childhood: diffusion tensor imaging of subtle white matter damage

Neuroradiology, 2013-10, Vol.55 (10), p.1251-1257

2013

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Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants

Experimental cell research, 2023-12, Vol.433 (2), p.113827-113827, Article 113827

2023

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Cytomegalovirus-associated biliary atresia

Journal of pediatric surgery case reports, 2018-08, Vol.35, p.17-20

2018

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Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster

Application of induced pluripotent stem cells in epilepsy

Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons

Low‐grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment

Quantitative pretreatment EEG predicts efficacy of ACTH therapy in infantile epileptic spasms syndrome

Increased levels of plasma total tau in adult Down syndrome

Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

Luteolin attenuates interleukin-6-mediated astrogliosis in human iPSC-derived neural aggregates: A candidate preventive substance for maternal immune activation-induced abnormalities

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Lumbosacral polyradiculopathy after intrathecal chemotherapy in pediatric acute lymphoblastic leukemia

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

Constitutively Activated ALK2 and Increased SMAD1/5 Cooperatively Induce Bone Morphogenetic Protein Signaling in Fibrodysplasia Ossificans Progressiva

Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years

Cerebellar peduncle injury predicts motor impairments in preterm infants: A quantitative tractography study at term-equivalent age

Development of Corpus Callosum in Preterm Infants Is Affected by the Prematurity: In Vivo Assessment of Diffusion Tensor Imaging at Term-Equivalent Age

Longitudinal change in white matter in preterm infants without magnetic resonance imaging abnormalities: Assessment of serial diffusion tensor imaging and their relationship to neurodevelopmental outcomes

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

Effects of chemotherapy on the brain in childhood: diffusion tensor imaging of subtle white matter damage

Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants

Cytomegalovirus-associated biliary atresia

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