Sacconi S, Trevisson E, Salviati L, Ayme S, Rigal O, Redondo A, et al
. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord. 2010;20:44-8 pubmed publisher
..This study provides a rationale for future therapeutic trials on the effect of CoQ(10) supplementation in patients with mitochondrial diseases presenting with myopathy among clinical features. ..
Sacconi S, Bocquet J, Chanalet S, Tanant V, Salviati L, Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol. 2010;257:1730-3 pubmed publisher
..In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms...
Sacconi S, Feasson L, Antoine J, Pecheux C, Bernard R, Cobo A, et al
. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord. 2012;22:66-72 pubmed publisher
..We propose that impairment of alpha-B crystallin dimerization may also be relevant to the pathogenesis of these disorders. ..
Sacconi S, Camaño P, de Greef J, Lemmers R, Salviati L, Boileau P, et al
. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet. 2012;49:41-6 pubmed publisher
Sacconi S, Lemmers R, Balog J, van der Vliet P, Lahaut P, van Nieuwenhuizen M, et al
. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet. 2013;93:744-51 pubmed publisher
..We conclude that FSHD1 and FSHD2 share a common pathophysiological pathway in which the FSHD2 gene can act as modifier for disease severity in families affected by FSHD1. ..