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  1. Article

    Open Access

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

    Àngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios… in Acta Neuropathologica (2020)

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  2. Article

    Open Access

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

    Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to sk...

    Jonàs Juan-Mateu, Maria José Rodríguez… in Orphanet Journal of Rare Diseases (2012)

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