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Publications by Carlo Minetti

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics
Genetics
2018English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics
Genetics
2018English

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American Journal of Human Genetics
Genetics
2010English

NovelGABRG2mutations Cause Familial Febrile Seizures

Neurology: Genetics
NeurologyGenetics
2015English

Congenital Myopathies: Clinical Phenotypes and New Diagnostic Tools

Italian Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Mutations in GMPPB Presenting With Pseudometabolic Myopathy

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

Phenotypic Behavior of Caveolin-3 Mutations That Cause Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD-1C)

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
1999English

Loss of Caveolin-3 Induces a Lactogenic Microenvironment That Is Protective Against Mammary Tumor Formation

American Journal of Pathology
Forensic MedicinePathology
2009English

Caveolin-3 T78M and T78K Missense Mutations Lead to Different Phenotypes in Vivo and in Vitro

Laboratory Investigation
Forensic MedicinePathologyCell BiologyMolecular Biology
2008English

Pharmacological Rescue of the Dystrophin-Glycoprotein Complex in Duchenne and Becker Skeletal Muscle Explants by Proteasome Inhibitor Treatment

American Journal of Physiology - Cell Physiology
PhysiologyCell Biology
2006English

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