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  1. MedlinePlus
    https://medlineplus.gov/genetics/condition/cln10-disea…

    CLN10 disease: MedlinePlus Genetics

    CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus).

    さらに詳しく探す

    Neuronal ceroid lipofuscinosis 10 - NIH Genetic Testing …
    ncbi.nlm.nih.gov
    CLN10 disease - About the Disease - Genetic and Rare …
    rarediseases.info.nih.gov
    Early infantile neuronal ceroid lipofuscinosis (CLN10 …
    researchgate.net
    Neuronal ceroid lipofuscinosis 10 - National Organization for …
    rarediseases.org
    CLN10 disease - Getting a Diagnosis - Genetic and Rare …
    rarediseases.info.nih.gov
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  2. ミネルバクリニック
    https://minerva-clinic.or.jp/.../genetic-disease/sa/cln10

    神経セロイドリポフスチン症10 | 東京・ミネルバクリニック

  3. Genetic and Rare Diseases Information Center
    https://rarediseases.info.nih.gov/diseases/1218/cln10...

    CLN10 disease - About the Disease - Genetic and Rare ...

    さらに詳しく探す

    Congenital Batten Disease (CLN10 Disease)
    battendiseasenews.com
    A Novel Claudinopathy Based on Claudin-10 Mutations - …
    pubmed.ncbi.nlm.nih.gov
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  4. Description CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus).

    CLN10 disease: MedlinePlus Genetics

    medlineplus.gov/genetics/condition/cln10-disease/
    medlineplus.gov/genetics/condition/cln10-disease/
  5. 他の人はこちらも質問
    What is cln10 disease?
    CLN10 disease, an early infantile neuronal ceroid lipofuscinosis, is associated with a gene that encodes cathepsin D (CtsD), one of the major lysosomal proteases. Whole body CtsD-knockout mice show neurodegenerative phenotypes with the accumulation of lipofuscins in the brain and also show defects in other tissues including intestinal necrosis.

    Lack of Cathepsin D in the central nervous system results in ... - Nature

    nature.com
    What is the difference between cln10 and Cln1 disease?
    Congenital CLN10 disease [ 4] is associated with dysfunction of the lysosomal enzyme cathepsin D. Patients are born with microcephaly and seizures. The more frequent infantile CLN1 disease [ 5] is caused by mutations in CLN1 and is associated with dysfunction of the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1).

    Current and Emerging Treatment Strategies for Neuronal Ceroid

    ncbi.nlm.nih.gov
    Is cln10 disease associated with a novel mutation in CTSD?
    Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. J. Neurol. 263, 1029–1032 (2016). Varvagiannis, K. et al. Congenital neuronal ceroid lipofuscinosis with a novel CTSD gene mutation: a rare cause of neonatal-onset neurodegenerative disorder. Neuropediatrics 49, 150–153 (2018).

    Therapeutic landscape for Batten disease: current treatments ... - Nature

    nature.com
    Why does cln10 have a number sign?
    A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-10 (CLN10) is caused by homozygous or compound heterozygous mutation in the cathepsin D gene (CTSD; 116840) on chromosome 11p15.

    CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 - OMIM

    omim.org
    フィードバック
  6. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440934

    Current and Emerging Treatment Strategies for Neuronal ...

    タグ:
    Neuronal ceroid lipofuscinosis
    Cathepsin D
    Publish Year:2019
  7. OMIM
    https://www.omim.org/entry/610127

    CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 - OMIM

    タグ:
    Cathepsin D
    Cln10 Disorder
    Cln 10 Onset
    Ncl Cln
  8. Molecular Neurodegeneration
    https://molecularneurodegeneration.biomedcentral.com/...

    Emerging new roles of the lysosome and neuronal ceroid ...

    タグ:
    Neuronal ceroid lipofuscinosis
    Cathepsin D
    Publish Year:2019
  9. Nature
    https://www.nature.com/articles/s41582-019-0138-8

    Therapeutic landscape for Batten disease: current treatments ...

    タグ:
    Publish Year:2019
    Battens Disease Cln1
    Batten Disease in Africa
  10. Nature
    https://www.nature.com/articles/s41598-022-15805-3

    Lack of Cathepsin D in the central nervous system results in ...

    タグ:
    Neuronal ceroid lipofuscinosis
    Cathepsin D
  11. Oxford Academic
    https://academic.oup.com/book/30048/chapter/256055018

    CLN10 | The Neuronal Ceroid Lipofuscinoses (Batten Disease ...

    タグ:
    Genetics
    Batten disease
  12. PubMed
    https://pubmed.ncbi.nlm.nih.gov/27072142

    Early infantile neuronal ceroid lipofuscinosis (CLN10 disease ...

    タグ:
    Neuronal ceroid lipofuscinosis
    Publish Year:2016

  14. CLN10 diseaseの画像

    bing.com/images
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