Claudia Castiglioni
Wellcome Centre for Cell-Matrix Research(GB)Rambam Health Care Campus(IL)Finis Terrae University(CL)Clínica MEDS (Chile)(CL)The San Raffaele Telethon Institute for Gene Therapy(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, RNA modifications and cancer, Nuclear Structure and Function
Most-Cited Works
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → TBC1D24 genotype–phenotype correlation(2016)126 cited
- → Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study(2020)110 cited
- → Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores(2008)104 cited
- → Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review(2018)87 cited
- → The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy(2020)72 cited