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  1. Article: X-linked form of Emery-Dreifuss muscular dystrophy.

    Hayashi, Y K

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2006  Volume 24, Issue 2, Page(s) 98–103

    Abstract: Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder clinically characterized by slowly progressive weakness affecting humero-peroneal muscles, early joint contractures and cardiomyopathy with conduction defects. Autosomal dominant ... ...

    Abstract Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder clinically characterized by slowly progressive weakness affecting humero-peroneal muscles, early joint contractures and cardiomyopathy with conduction defects. Autosomal dominant and recessive forms are caused by mutations in lamin A/C gene. Lamin A/C is a major component of nuclear lamina, and its gene mutations cause several human disorders including muscular dystrophy, cardiomyopathy, lipodystrophy, neuropathy, and progeria syndrome. X-linked recessive form of EDMD is caused by mutation in EMD (or STA) gene encoding an integral protein of the inner nuclear membrane. Emerin expresses ubiquitously, but its deficiency affects only limited tissues of skeletal and cardiac muscles and joints. In this paper, I will focus on clinical and pathological aspects of X-EDMD and possible functions of emerin.
    MeSH term(s) Animals ; DNA-Binding Proteins ; Disease Models, Animal ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/physiology ; Mice ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Nuclear Proteins/genetics ; Thymopoietins/genetics ; Thymopoietins/physiology
    Chemical Substances DNA-Binding Proteins ; LEMD3 protein, human ; Membrane Proteins ; Nuclear Proteins ; Thymopoietins ; emerin
    Language English
    Publishing date 2006-02-28
    Publishing country Italy
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2102328-1
    ISSN 1128-2460
    ISSN 1128-2460
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6694: Show issues Location:
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  2. Article: [Autosomal dominant Emery-Dreifuss muscular dystrophy(AD-EDMD)].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 35–37

    MeSH term(s) Chromosomes, Human, Pair 1/genetics ; Genes, Dominant ; Humans ; Lamins ; Membrane Proteins/metabolism ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/physiopathology ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Point Mutation ; Protein Binding ; Thymopoietins/metabolism
    Chemical Substances Lamins ; Membrane Proteins ; Nuclear Proteins ; Thymopoietins ; emerin
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: [Autosomal recessive Emery-Dreifuss muscular dystrophy(AR-EDMD)].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 38

    MeSH term(s) Chromosomes, Human ; Disease Progression ; Genes, Recessive ; Humans ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/physiopathology
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: [Santavuori disease(muscle-eye-brain disease)].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 109–110

    MeSH term(s) Chromosomes, Human, Pair 1 ; Diagnosis, Differential ; Genes, Recessive ; Humans ; Infant ; Laminin/immunology ; Neuronal Ceroid-Lipofuscinoses/congenital ; Neuronal Ceroid-Lipofuscinoses/physiopathology ; Prognosis
    Chemical Substances Laminin ; laminin alpha 2
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: [Walker-Warburg syndrome(WWS)].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 107–108

    MeSH term(s) Brain/abnormalities ; Cytoskeletal Proteins ; Diagnosis, Differential ; Eye Abnormalities ; Genes, Recessive ; Humans ; Infant ; Infant, Newborn ; Laminin ; Membrane Glycoproteins ; Muscular Dystrophies/congenital ; Prognosis ; Sarcoglycans ; Syndrome
    Chemical Substances Cytoskeletal Proteins ; Laminin ; Membrane Glycoproteins ; Sarcoglycans ; laminin beta2 (124148-86-3)
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: [Other non-Fukuyama congenital muscular dystrophy].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 111–113

    MeSH term(s) Antigens, CD/genetics ; Antigens, CD/physiology ; Collagen Type VI/genetics ; Humans ; Integrin alpha Chains ; Laminin/deficiency ; Laminin/immunology ; Muscle Rigidity/complications ; Muscular Dystrophies/congenital ; Muscular Dystrophies/physiopathology ; Mutation ; Spinal Diseases/complications ; Syndrome
    Chemical Substances Antigens, CD ; Collagen Type VI ; Integrin alpha Chains ; Laminin ; integrin alpha7 ; laminin alpha 2
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: [Primary merosin deficiency].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 103–106

    MeSH term(s) Diagnosis, Differential ; Humans ; Infant, Newborn ; Laminin/deficiency ; Laminin/genetics ; Laminin/physiology ; Muscular Dystrophies/congenital ; Muscular Dystrophies/diagnosis ; Muscular Dystrophies/physiopathology
    Chemical Substances Laminin
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: [X-linked Emery-Dreifuss muscular dystrophy(X-EDMD)].

    Hayashi, Y K

    Ryoikibetsu shokogun shirizu

    2001  , Issue 35, Page(s) 31–34

    MeSH term(s) Diagnosis, Differential ; Genetic Linkage ; Humans ; Membrane Proteins/genetics ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/physiopathology ; Mutation ; Nuclear Proteins ; Prognosis ; Thymopoietins/genetics ; X Chromosome
    Chemical Substances Membrane Proteins ; Nuclear Proteins ; Thymopoietins ; emerin
    Language Japanese
    Publishing date 2001
    Publishing country Japan
    Document type Journal Article ; Review
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].

    Hayashi, Y K / Arahata, K

    Nihon rinsho. Japanese journal of clinical medicine

    1997  Volume 55, Issue 12, Page(s) 3165–3168

    Abstract: Immunocytochemical deficiency of alpha-sarcoglycan (adhalin) in the skeletal muscle that is associated with normal dystrophin expression has been called adhalinopathy. However, recent molecular biological and genetic studies revealed that alpha- ... ...

    Abstract Immunocytochemical deficiency of alpha-sarcoglycan (adhalin) in the skeletal muscle that is associated with normal dystrophin expression has been called adhalinopathy. However, recent molecular biological and genetic studies revealed that alpha-sarcoglycan is one of four subunits of sarcoglycans (alpha-delta) or sarcoglycan complex. Mutations of any one of the genes of these subunits cause loss of sarcoglycan complex, and therefore they are now called sarcoglycanopathy or limb-girdle muscular dystrophy (LGMD) 2C-2F. The frequency of sarcoglycanopathy is about 5-10% of dystrophin-normal muscular dystrophy. Mutation of alpha-sarcoglycan gene is most frequent (34%) among the four sarcoglycan genes as shown in the tables. However, 38% of the patients with sarcoglycanopathy have no mutation, implying the presence of yet unknown sarcoglycan(s) and/or interacting protein(s) with sarcoglycan complex.
    MeSH term(s) Cytoskeletal Proteins/deficiency ; Cytoskeletal Proteins/genetics ; Humans ; Membrane Glycoproteins/deficiency ; Membrane Glycoproteins/genetics ; Muscular Dystrophies/epidemiology ; Muscular Dystrophies/etiology ; Mutation ; Sarcoglycans
    Chemical Substances Cytoskeletal Proteins ; Membrane Glycoproteins ; Sarcoglycans
    Language Japanese
    Publishing date 1997-12
    Publishing country Japan
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 390903-7
    ISSN 0047-1852
    ISSN 0047-1852
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 429: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  10. Article: [Congenital muscular dystrophy (CMD)].

    Hayashi, Y K / Arahata, K

    No to shinkei = Brain and nerve

    1997  Volume 49, Issue 4, Page(s) 311–318

    MeSH term(s) Basement Membrane/pathology ; Brain/pathology ; Humans ; Laminin/genetics ; Laminin/metabolism ; Muscular Dystrophies/congenital ; Muscular Dystrophies/genetics ; Muscular Dystrophies/metabolism ; Muscular Dystrophies/pathology ; Spinal Cord/pathology
    Chemical Substances Laminin
    Language Japanese
    Publishing date 1997-04
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 390389-8
    ISSN 1344-8129 ; 0006-8969 ; 1881-6096
    ISSN (online) 1344-8129
    ISSN 0006-8969 ; 1881-6096
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 398: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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