Aurelio Hernández‐Laín

A new muscle glycogen storage disease associated with glycogenin‐1 deficiency

Edoardo Malfatti, Johanna Nilsson, Carola Hedberg‐Oldfors et al. · Annals of Neurology · 2014 · 86 citations · Full text

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel A. Martı́n et al. · Mitochondrion · 2016 · 77 citations

Biochemistry, Natural Sciences, Inherited Metabolic Disease +8

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

Jonàs Juan‐Mateu, Maria José Rodríguez, A. Nascimento et al. · Orphanet Journal of Rare Diseases · 2012 · 53 citations · Full text

Heterozygous <i>CAPN3</i> missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Laura González, Gianina Ravenscroft, Macarena Cabrera‐Serrano et al. · Neuropathology and Applied Neurobiology · 2020 · 35 citations

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Conrad C. Weihl, Ana Töpf, Rocío Bengoechea et al. · Acta Neuropathologica · 2022 · 30 citations · Full text

Genome Instability, Early Respiratory Failure, Genetic Disorder +7