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Publications by S. Quijano-Roy

New POMT2 Mutations Causing Congenital Muscular Dystrophy: Identification of a Founder Mutation

English

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A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI

Brain and Development

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Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy

Frontiers in Genetics

Molecular Medicine

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Congenital Muscular Dystrophy

The Internet Journal of Radiology

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Actininopathy – A New Muscular Dystrophy Caused by ACTN2 Dominant Mutations

Annals of Neurology

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Moderately Progressive Ullrich Congenital Muscular Dystrophy

Jornal de Pediatria

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Congenital Muscular Dystrophy and .ALPHA.-dystroglycanopathy

Clinical Neurology

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Congenital Muscular Dystrophy With Cerebellar Involvement

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Phospholipid Scrambling Activity by TMEM16E/Ano5: Opposite Effects of Mutations Causing Bone Dysplasia and Muscular Dystrophy

Biophysical Journal

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Congenital Muscular Dystrophy: From Muscle to Brain

Italian Journal of Pediatrics

English