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Publications by Marcos Madruga‐Garrido

NOVEL Intronic CAPN3 Roma Mutation Alters Splicing Causing RNA Mediated Decay

Annals of Clinical and Translational Neurology

English

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Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

Multidisciplinary

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In Vitro Antisense Therapeutics for a Deep Intronic Mutation Causing Neurofibromatosis Type 2

European Journal of Human Genetics

English

RNA Secondary Structure Mediated by Alu Insertion as a Novel Disease-Causing Mechanism

English

Familial Wilms Tumour Resulting From WT1 Mutation: Intronic Polymorphism Causing Artefactual Constitutional Homozygosity

Journal of Medical Genetics

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a Novel Intronic Mutation in MTM1 Detected by RNA Analysis in a Case of X-Linked Myotubular Myopathy

Neurology: Genetics

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Novel CDHR1 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

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Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

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Novel C8ORF37 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

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The Coupling of Alternative Splicing and Nonsense-Mediated mRNA Decay

Advances in Experimental Medicine and Biology

Molecular Biology

English