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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 27, 2015
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-reviewClaudia Castiglioni, Daniela Verrigni, Cecilia Okuma, et al.
Muscle & Nerve|January 23, 2016
Broadening the imaging phenotype of dysferlinopathy at different disease stagesJorge Díaz, Lisanne Woudt, Lionel Suazo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 28, 2018
19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal systemKexin Zhao, Aarnoud van der Spoel, Claudia Castiglioni, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
Neuromuscular Disorders : NMD|February 17, 2025
VMA21-X-linked myopathy in Peru: characterization of three familiesPeggy Martínez-Esteban, Milagros Sotelo-Muñoz, Gianmarco Severa, et al.
American Journal of Medical Genetics. Part A|July 1, 2014
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremityClaudia Castiglioni, Enrico Bertini, Paulina Orellana, et al.
Journal of Clinical Anesthesia|December 28, 2025
Randomized clinical trial between two sedation protocols during transcatheter aortic valve replacement procedures: Ketamine and Propofol versus Remifentanil and DexmedetomidineAnna Castellari, Matteo Lucchelli, Mattia Gomarasca, et al.
Brain : a Journal of Neurology|December 7, 2007
McLeod myopathy revisited: more neurogenic and less benignEkkehard Hewer, Adrian Danek, Benedikt G Schoser, et al.
Revista Medica De Chile|February 6, 2007
[McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]Marcelo Miranda C, Claudia Castiglioni T, Carlos Regonesi L, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variantsClaudia Castiglioni, Fabiana Fattori, Bjarne Udd, et al.
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