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Publications by Marta Fernández‐Matarrubia

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English

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A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree

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Optic Atrophy 1 (OPA1)

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First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

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A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

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Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

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A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

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Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

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A Patient With Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

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Hereditary Optic Atrophy With Dominant Transmission and Early Onset

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