Beatriz San Millán
University Hospital Complex Of Vigo(ES)Galicia Sur Biomedical Foundation(ES)
Publications by Year
Research Areas
Glycogen Storage Diseases and Myoclonus, Lysosomal Storage Disorders Research, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders
Most-Cited Works
- → Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy(2011)150 cited
- → Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36(2020)75 cited
- → Therapeutic Approaches in Lysosomal Storage Diseases(2021)59 cited
- → A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy(2011)51 cited
- → Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo(2020)48 cited
- → Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)(2020)41 cited
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