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  1. Article ; Online: A message for 2019.

    Matsumoto, Naomichi

    Journal of human genetics

    2019  Volume 64, Issue 5, Page(s) 355–357

    MeSH term(s) Genetics ; Humans ; Metabolism, Inborn Errors/genetics ; Technology
    Language English
    Publishing date 2019-04-25
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-019-0580-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The 2018 JHG Young Scientist Award.

    Matsumoto, Naomichi

    Journal of human genetics

    2018  Volume 64, Issue 1, Page(s) 1

    MeSH term(s) Awards and Prizes ; Biomedical Research ; Humans ; Molecular Biology ; Societies, Scientific
    Language English
    Publishing date 2018-11-02
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-018-0526-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A message for 2018.

    Matsumoto, Naomichi

    Journal of human genetics

    2018  Volume 63, Issue 4, Page(s) 393–396

    MeSH term(s) Human Genetics ; Humans ; Periodicals as Topic ; Publications
    Language English
    Publishing date 2018-03-26
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-018-0417-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].

    Miyatake, Satoko / Matsumoto, Naomichi

    Brain and nerve = Shinkei kenkyu no shinpo

    2022  Volume 74, Issue 11, Page(s) 1247–1256

    Abstract: Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), ...

    Abstract Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), bilateral vestibular impairment, autonomic dysfunction, chronic cough, pyramidal sign, or parkinsonism. Repeat conformations heterogeneity is observed along with the possible phenotype-genotype correlation while its molecular pathogenesis remains uncovered.
    MeSH term(s) Humans ; Bilateral Vestibulopathy/genetics ; Bilateral Vestibulopathy/diagnosis ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/diagnosis ; Peripheral Nervous System Diseases ; Syndrome ; Autonomic Nervous System Diseases
    Language Japanese
    Publishing date 2022-11-04
    Publishing country Japan
    Document type English Abstract ; Journal Article
    ZDB-ID 390389-8
    ISSN 1344-8129 ; 1881-6096 ; 0006-8969
    ISSN (online) 1344-8129
    ISSN 1881-6096 ; 0006-8969
    DOI 10.11477/mf.1416202223
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A message for 2017.

    Matsumoto, Naomichi

    Journal of human genetics

    2017  Volume 62, Issue 5, Page(s) 517–519

    MeSH term(s) Human Genetics ; Humans ; Periodicals as Topic ; Publications
    Language English
    Publishing date 2017-02-01
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2017.29
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  6. Article ; Online: A message for 2016.

    Matsumoto, Naomichi

    Journal of human genetics

    2016  Volume 61, Issue 6, Page(s) 467–469

    Language English
    Publishing date 2016-06
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2016.41
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  7. Article: Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up.

    Lee, Gha-Hyun / Jung, Eugene / Jung, Na-Yeon / Mizuguchi, Takeshi / Matsumoto, Naomichi / Kim, Eun-Joo

    Frontiers in neurology

    2024  Volume 15, Page(s) 1347646

    Abstract: Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder known for its diverse clinical manifestations. Although episodic neurogenic events can be associated with NIID, no reported cases have demonstrated ... ...

    Abstract Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder known for its diverse clinical manifestations. Although episodic neurogenic events can be associated with NIID, no reported cases have demonstrated concurrent clinical features or MRI findings resembling reversible cerebral vasoconstriction syndrome (RCVS). Here, we present the inaugural case of an adult-onset NIID patient who initially displayed symptoms reminiscent of RCVS. The 59-year-old male patient's initial presentation included a thunderclap headache, right visual field deficit, and confusion. Although his brain MRI appeared normal, MR angiography unveiled left posterior cerebral artery occlusion, subsequently followed by recanalization, culminating in an RCVS diagnosis. Over an 11-year period, the patient encountered 10 additional episodes, each escalating in duration and intensity, accompanied by seizures. Simultaneously, cognitive impairment progressed. Genetic testing for NIID revealed an abnormal expansion of GGC repeats in
    Language English
    Publishing date 2024-02-09
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2024.1347646
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  8. Article ; Online: Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.

    Misumi, Yohei / Yamashita, Taro / Kuratomi, Aki / Murakami, Yoshitaka / Fujita, Atsushi / Matsumoto, Naomichi / Ueda, Mitsuharu

    Journal of human genetics

    2024  

    Abstract: We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus ... ...

    Abstract We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554.6:c.824del p.(Glu275Glyfs*53). Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.
    Language English
    Publishing date 2024-04-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-024-01250-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.

    Silva, Sebastián / Rosas, Mónica / Guerra, Benjamín / Muñoz, Marión / Fujita, Atsushi / Sakamoto, Masamune / Matsumoto, Naomichi

    Brain & development

    2024  

    Abstract: Introduction: CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the ... ...

    Abstract Introduction: CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood.
    Case report: Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset.
    Methods and results: her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015-2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.
    Discussion: With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.
    Language English
    Publishing date 2024-04-18
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 604822-5
    ISSN 1872-7131 ; 0387-7604
    ISSN (online) 1872-7131
    ISSN 0387-7604
    DOI 10.1016/j.braindev.2024.04.001
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  10. Article ; Online: A message for 2015.

    Matsumoto, Naomichi

    Journal of human genetics

    2015  Volume 60, Issue 3, Page(s) 109–111

    MeSH term(s) Anniversaries and Special Events ; Genetics, Medical ; Humans ; Journal Impact Factor ; Periodicals as Topic/standards ; Periodicals as Topic/trends
    Language English
    Publishing date 2015-03
    Publishing country England
    Document type Editorial
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2015.9
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