Tarui disease and distal glycogenoses: clinical and genetic update

od Toscano, A, Musumeci, O
Izdano 2007

Cardiological manifestations of mitochondrial respiratory chain disorders

od BERARDO, A., MUSUMECI, O., TOSCANO, A.
Izdano 2011

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

od Digilio, M C, Marino, B, Giannotti, A, Toscano, A, Dallapiccola, B
Izdano 1997

Right ventricular obstructive hypertrophic cardiomyopathy in primary Myo-Adenylate Deaminase Deficiency

od DE GREGORIO, C., MORABITO, G., MUSUMECI, O., DONATO, R., TOSCANO, A.
Izdano 2011

Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients

od Musumeci, O, Gaeta, M, Barca, E, Mileto, A, Vita, G, Toscano, A
Izdano 2013

Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations

od Barca, E, Musumeci, O, Rodolico, C, Ciranni, A, Vita, G, Toscano, A
Izdano 2013

Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a follow-up period up to 7 years

od Gentile, L., Mazzeo, A., Russo, M., Arimatea, I., Vita, G., Toscano, A.
Izdano u Sci Rep (2020)

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

od Zeviani, M, Amati, P, Bresolin, N, Antozzi, C, Piccolo, G, Toscano, A, DiDonato, S
Izdano 1991

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

od Sweeney, M G, Davis, M B, Lashwood, A, Brockington, M, Toscano, A, Harding, A E
Izdano 1992

Cerebellar ataxia and severe muscle CoQ(10) deficiency in a patient with a novel mutation in ADCK3

od Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.
Izdano u Clin Genet (2016)

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

od Sarkozy, A, Conti, E, Neri, C, D'Agostino, R, Digilio, M, Esposito, G, Toscano, A, Marino, B, Pizzuti, A, Dallapiccola, B
Izdano 2005

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

od Mancuso, M., Angelini, C., Bertini, E., Carelli, V., Comi, G.P., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Zeviani, M., Siciliano, G.
Izdano 2012

P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases

od Mancuso, M., Angelini, C., Bertini, E., Caldarazzo Ienco, E., Carelli, V., Comi, G.P., Minetti, C., Mongini, T., Orsucci, D., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Santantonio, P., Siciliano, G.
Izdano 2011

A new explanation for recessive myotonia congenita: Exon deletions and duplications in CLCN1

od Raja Rayan, D.L., Haworth, A., Sud, R., Matthews, E., Fialho, D., Burge, J., Portaro, S., Schorge, S., Tuin, K., Lunt, P., McEntagart, M., Toscano, A., Davis, M.B., Hanna, M.G.
Izdano 2012

Neuroendocrine predictors of vasoplegia after cardiopulmonary bypass

od Pasero, D., Berton, A. M., Motta, G., Raffaldi, R., Fornaro, G., Costamagna, A., Toscano, A., Filippini, C., Mengozzi, G., Prencipe, N., Zavattaro, M., Settanni, F., Ghigo, E., Brazzi, L., Benso, A. S.
Izdano u J Endocrinol Invest (2020)

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)

od Violano, R, Ripolone, M, Lucchini, V, Villa, L, Sciacco, M, Comi, G, Tonin, P, Filosto, M, Previtali, S, Mongini, T, Vercelli, L, Vittonatto, E, Toscano, A, Musumeci, O, Barca, E, Angelini, C, Ravaglia, S, Lamperti, C, Mora, M, Morandi, L, Moggio, M
Izdano 2013

O-3 Clinical features and outcome measures during 1 year enzyme replacement therapy in late onset GSD II patients

od Angelini, C., Semplicini, C., Pegoraro, E., Filosto, M., Marrosu, G., Piras, R., Mongini, T., Vercelli, L., Tonin, P., Servidei, S., Di Giacopo, R., Crescimanno, G., Ravaglia, S., Toscano, A., Musumeci, O., Siciliano, G., Ricci, G., Di Iorio, Cipullo, F., Moggio, M., Comi, G., Lucchini, V., Morandi, L.
Izdano 2011

High venous to arterial CO2 gap is related to cardiovascular death in cardiogenic shock

od Lopez-Sobrino, T, Gazquez Toscano, A, Soler Selva, M, Romeu Mirabete, N, Parellada Vendrell, M, Casado Pena, M, Ruiz Falques, C, Guzman Bofarull, J, Forado Benatar, I, Calvo Lopez, M, Izquierdo Montilla, L, Lopez Domenech, G, Vleasco Ortiz, I, Ortiz Perez, JT, Andrea Riba, R
Izdano u Eur Heart J Acute Cardiovasc Care (2021)

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

od Pane, M., Messina, S., Vasco, G., Foley, A.R., Morandi, L., Pegoraro, E., Mongini, T., D’Amico, A., Bianco, F., Lombardo, M.E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., Santorelli, F.M., Bertini, E., Muntoni, F., Mercuri, E.
Izdano 2012

I-4 Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy

od Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Moggio, M., Filosto, M., Sette, E., Pegoraro, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M.A., Mongini, T., Toscano, A., Vercelli, L., Di Giacopo, R., Lucchini, V., Tugnoli, V., Rigoldi, M., Piras, R., Giannini, F., Gasperini, S., Volpi, L., Diodato, D., Ariatti, A.
Izdano 2011