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Journal of Neurology|November 8, 2007
Evidence of cardiovascular autonomic impairment in mitochondrial disordersRita Di Leo, Olimpia Musumeci, Cesare de Gregorio, et al.Annals of Neurology|November 26, 2002
Coenzyme Q-responsive Leigh's encephalopathy in two sistersLionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, et al.Neuromuscular Disorders : NMD|July 27, 2007
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiencyOlimpia Musumeci, Mohammed Aguennouz, Giacomo Pietro Comi, et al.Neuromuscular Disorders : NMD|May 24, 2005
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 geneOlimpia Musumeci, Carmelo Rodolico, Ichizo Nishino, et al.Neuromuscular Disorders : NMD|December 3, 2011
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)Olimpia Musumeci, Claudio Bruno, Tiziana Mongini, et al.Free Radical Research|July 23, 2005
Oxidative stress in myotonic dystrophy type 1Antonio Toscano, Sonia Messina, Giuseppe M Campo, et al.Journal of Neuromuscular Diseases|November 18, 2016
Myasthenia Gravis: Unusual Presentations and Diagnostic PitfallsCarmelo Rodolico, Daniela Parisi, Simona Portaro, et al.Molecular Genetics and Metabolism|September 11, 2012
Auditory system involvement in late onset Pompe disease: a study of 20 Italian patientsOlimpia Musumeci, Natalia Catalano, Emanuele Barca, et al.Neurogenetics|February 9, 2024
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literatureEttore Cioffi, Gianluca Coppola, Olimpia Musumeci, et al.Frontiers in Neurology|November 9, 2018
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)Daniela Parisi, Olimpia Musumeci, Stefania Mondello, et al.Pageof 12