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Stem Cell Reports|September 6, 2016
Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem CellsNeia Naldaiz-Gastesi, María Goicoechea, Sonia Alonso-Martín, et al.Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.European Journal of Nutrition|June 7, 2014
Association between different obesity measures and the risk of stroke in the EPIC Spanish cohortItziar Abete, Larraitz Arriola, Nerea Etxezarreta, et al.Human Molecular Genetics|September 27, 2014
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2Richard J L F Lemmers, Jelle J Goeman, Patrick J van der Vliet, et al.Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.Nature Medicine|May 31, 2011
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophyCharlotte Fugier, Arnaud F Klein, Caroline Hammer, et al.Nature Communications|April 12, 2016
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophyFernande Freyermuth, Frédérique Rau, Yosuke Kokunai, et al.Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Pageof 7