Claudia Castiglioni

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

<i>TBC1D24</i> genotype–phenotype correlation

Simona Balestrini, Mathieu Milh, Claudia Castiglioni et al. · Neurology · 2016 · 126 citations · Full text

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

Nicole Monnier, Isabelle Marty, Julien Fauré et al. · Human Mutation · 2008 · 103 citations

The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay et al. · Neurology · 2020 · 67 citations · Full text