KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
Bianca Buchignani(University of Pisa), Guja Astrea(Fondazione Stella Maris), Giada Sgherri(Fondazione Stella Maris), Roberta Battini(Fondazione Stella Maris), Alessandro Orsini(University of Pisa), Filippo M. Santorelli(Fondazione Stella Maris), Gemma Marinella(Fondazione Stella Maris), Silvia Frosini(Fondazione Stella Maris), Rosa Pasquariello(Fondazione Stella Maris)
Cited by 9
Related Papers
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
|American Journal of Medical Genetics Part A|2015|617
Mitochondrial encephalomyopathy with coenzyme Q <sub>10</sub> deficiency
|Neurology|1997|196
Functional changes in Duchenne muscular dystrophy
|Neurology|2011|178
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings
|Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease|2011|157
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
|Human Mutation|2020|115