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  • Factors influencing the dec... Factors influencing the decision to introduce alternative nutrition in patients with Duchenne muscular dystrophy
    Yamamoto, Toshiyuki; Mori‐Yoshimura, Madoka; Oya, Yasushi ... Muscle & nerve, 11/2023, Volume: 68, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Abstract Introduction/Aims Nutritional management of adults with Duchenne muscular dystrophy (DMD) is an important clinical issue. However, it is not clear which dysphagia‐related factors should ...
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  • Assessment of thrombocytope... Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients
    Mori‐Yoshimura, Madoka; Kimura, Ayano; Tsuru, Ayumi ... Muscle & nerve, March 2022, 2022-03-00, 20220301, Volume: 65, Issue: 3
    Journal Article
    Peer reviewed

    Introduction We previously identified UDP‐N‐acetylglucosamine 2‐epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease‐specific cardiac ...
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  • Intranuclear inclusions in ... Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy
    Ogasawara, Masashi; Eura, Nobuyuki; Nagaoka, Utako ... Neuropathology and applied neurobiology, April 2022, Volume: 48, Issue: 3
    Journal Article
    Peer reviewed

    Aims Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). Neuronal intranuclear inclusion disease ...
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  • Unique Lewy pathology in my... Unique Lewy pathology in myotonic dystrophy type 1
    Sano, Terunori; Kawazoe, Tomoya; Shioya, Ayako ... Neuropathology, April 2022, Volume: 42, Issue: 2
    Journal Article
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    Lewy body‐related α‐synucleinopathy (Lewy pathology) has been reported in patients with myotonic dystrophy (DM) type 1 (DM1), but no detailed report has described the prevalence and extent of its ...
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  • Advances in understanding o... Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy
    Yoshioka, Wakako; Noguchi, Satoru; Mori‐Yoshimura, Madoka ... Neurology and clinical neuroscience, November 2022, 2022-11-00, 20221101, Volume: 10, Issue: 6
    Journal Article
    Peer reviewed

    GNE myopathy is an autosomal recessive adult‐onset distal myopathy caused by biallelic variants in the GNE gene, which encodes a protein with two key enzymatic activities in the biosynthesis of ...
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  • Assessing Dysferlinopathy P... Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
    Jacobs, Marni B.; James, Meredoith K.; Lowes, Linda P. ... Annals of neurology, 20/May , Volume: 89, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Objective Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for ...
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  • Comparison of strength test... Comparison of strength testing modalities in dysferlinopathy
    Reash, Natalie F.; James, Meredith K.; Alfano, Lindsay N. ... Muscle & nerve, August 2022, Volume: 66, Issue: 2
    Journal Article
    Peer reviewed

    Introduction/Aims Dysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression ...
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  • Cardiac and pulmonary findi... Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
    Moore, Ursula; Fernandez‐Torron, Roberto; Jacobs, Marni ... Muscle & nerve, 20/May , Volume: 65, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Introduction/Aims There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively ...
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