Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2016

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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P1476

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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P2093

Anders Paetau

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Ann-Liz Träskelin

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Antti Lamminen

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Emil Ylikallio

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Ibrahim Mahjneh

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Mari Auranen

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Maria Kousi

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Mervi Löfberg

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Sari Kiuru-Enari

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Tapani Salmi

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P2860

A method and server for predicting damaging missense mutations

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

A new distal myopathy with mutation in anoctamin 5.

ANO5-muscular dystrophy: clinical, pathological and molecular findings.

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity.

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475-485

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scholarly article

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10.3233/JND-160186

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P433

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P478

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Anna-Elina Lehesjoki

Päivi Piirilä

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2016-11-29T00:00:00Z

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27911336

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