AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
2014 · Journal of Neurodevelopmental Disorders · 109 citations
https://doi.org/10.1186/1866-1955-6-24
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Loreto Martorell
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Loreto Martorell is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Genetics and Neurodevelopmental Disorders. The author has an h-index of 35, co-authored 118 publications.
ORCID: 0000-0003-0898-7332Papers by this author
worksAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
2016 · European Journal of Human Genetics · 106 citations
https://doi.org/10.1038/ejhg.2016.99
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
2013 · Scientific Reports · 50 citations
https://doi.org/10.1038/srep01346
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
2020 · Neurología (English Edition) · 26 citations
https://doi.org/10.1016/j.nrleng.2019.01.008
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution
2021 · Journal of Biological Chemistry · 17 citations
https://doi.org/10.1016/j.jbc.2021.101338
Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia
2012 · Clinical Rheumatology · 11 citations
https://doi.org/10.1007/s10067-012-2052-y
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