O. Musumeci

发表

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

N. Bresolin, A. Martinuzzi, A. Toscano, 2012, Clinical genetics.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Diagnosis of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Management and treatment of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL

S. Salani, N. Bresolin, M. Filocamo, 2006, Human mutation.

CHINESE RED RICE DEPLETES MUSCLE COENZYME Q10 AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT

T. Mongini, C. Rodolico, L. Palmucci, 2006, Journal of the American Geriatrics Society.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

S. Mondello, E. Barca, F. Montagnese, 2015, Journal of Neurology.