Jaume Canti-Coll
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 22 publications
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.
Journal: Journal of clinical medicine
Published: October 30, 2021
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Journal: Genes
Published: May 27, 2020
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.
Journal: Neurology. Genetics
Published: February 21, 2020
A New Methodology for Intraoperative Monitoring of the Functional Integrity of the Phrenic Nerve During Cardiothoracic Surgery.
Journal: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
Published: January 03, 2020
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Journal: Molecular genetics and metabolism
Published: December 20, 2018
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Journal: Journal of inherited metabolic disease
Published: July 22, 2018
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Journal: Human mutation
Published: May 03, 2018
A novel mutation in the valosin-containing-protein gene found in a Spanish family.
Journal: Journal of the neurological sciences
Published: April 27, 2018
Last Updated: 09/26/2026