Search Results - "Diaz, Carla Bolano"

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    MRI for the diagnosis of limb girdle muscular dystrophies by Bolano-Díaz, Carla, Verdú-Díaz, José, Díaz-Manera, Jordi

    Published in Current opinion in neurology (01-10-2024)
    “…In the last 30 years, there have many publications describing the pattern of muscle involvement of different neuromuscular diseases leading to an increase in…”
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    Journal Article
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    Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management by Bolano-Diaz, Carla, Diaz-Manera, Jordi

    Published in Therapeutics and clinical risk management (01-01-2022)
    “…Pompe disease is a genetic disorder produced by mutations in the gene leading to absence or reduced expression of acid alpha-glucosidase, an enzyme that…”
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    Journal Article
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    Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases by Bolano-Diaz, Carla, Verdú-Díaz, José, Gonzalez-Chamorro, Alejandro, Fitzsimmons, Sam, Veeranki, Gopi, Straub, Volker, Diaz-Manera, Jordi

    Published in Neuromuscular disorders : NMD (01-01-2024)
    “…•We applied dysferlin muscle MRI pattern rules to 1000 MRIs of other muscle diseases.•Two out of the eight rules were actually more frequently met by the other…”
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    Journal Article
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    The difficult path to diagnosis of the patient with spinal muscular atrophy by Bolaño Díaz, Carla F, Morosini, Mariel, Chloca, Fernando, Mesa, Lilia, Jáuregui, Agustín, Pirra, Laura, Vazquez, Gabriel, Flores, Daniel, Dubrovsky, Alberto

    Published in Archivos argentinos de pediatría (01-04-2023)
    “…Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors…”
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    Journal Article
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    El difícil camino al diagnóstico del paciente con atrofia muscular espinal by Díaz, Carla F. Bolaño, Morosini, Mariel, Chloca, Fernando, Mesa, Lilia, Jáuregui, Agustín, Pirra, Laura, Vazquez, Gabriel, Flores, Daniel, Dubrovsky, Alberto

    Published in Archivos argentinos de pediatría (01-04-2023)
    “…RESUMEN Introducción . Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es…”
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