Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD)

Authors: Porcino, M. ^{a, 1}, Musumeci, O. ^{a, 1}, Usbergo, C. ^b, Pugliese, A. ^a, Arena, I.G. ^a, Rodolico, C. ^a, Schoser, B. ^c, Toscano, A. ^{b, ⁎}

Source: In Neuromuscular Disorders February 2025 47

El computacionalismo clásico y el modelo de una mente creativa en composición musical

Authors: Oliveira, L. F., Zampronha, E. S.

Contributors: Martínez, I. C., Musumeci, O.

Source: Oliveira, L. F. and Zampronha, E. S. (2002) El computacionalismo clásico y el modelo de una mente creativa en composición musical. [Conference Paper]

Subject Terms: Philosophy: Philosophy of Mind, Computer Science: Artificial Intelligence, Philosophy of Mind, Artificial Intelligence

File Description: application/pdf

Access URL: http://cogprints.org/2860/

A mobile app for patients with Pompe disease and its possible clinical applications

Authors: Musumeci, O., Toscano, A., Ravaglia, S., Moggio, M., Comi, G., Pegoraro, E., Filosto, M., Marrosu, G., Maggi, L., Liguori, R., Massa, R., Di Iorio, G., Servidei, S., Angelini, C., Mongini, T., Ricci, Giulia, Baldanzi, Sigrid, Seidita, Fabrizio, Proietti, Chiara, Carlini, Francesca, Peviani, Silvia, Antonini, Giovanni, Vianello, Andrea, Siciliano, Gabriele ^*

Source: In Neuromuscular Disorders June 2018 28(6):471-475

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Authors: Crescimanno, G. ^*, Modica, R., Lo Mauro, R., Musumeci, O., Toscano, A., Marrone, O.

Source: In Neuromuscular Disorders July 2015 25(7):542-547

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

Authors: Corti, S., Bordoni, A., Ronchi, D., Musumeci, O., Aguennouz, M., Toscano, A., Lamperti, C., Bresolin, N., Comi, G.P.

Source: In Journal of the Neurological Sciences 2008 266(1):97-103

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

Authors: Montano, V., Lopriore, P., Gruosso, F., Carelli, V., Comi, G. P., Filosto, M., Lamperti, C., Mongini, T., Musumeci, O., Servidei, S., Tonin, P., Toscano, A., Primiano, G., Valentino, M. L., Bortolani, S., Marchet, S., Ricci, G., Modenese, A., Cotti Piccinelli, S., Risi, B.

Source: Journal of Neurology; Dec2022, Vol. 269 Issue 12, p6555-6565, 11p

Subject Terms: STATISTICAL reliability, MUSCLE diseases, MITOCHONDRIA

O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples

Authors: Diaz-Manera, J., Monceau, A., Gokul-Nath, R., Musumeci, O., Toscano, A., Papadimas, G., Kierdaszuk, B., Kostera-Pruszczyk, A., Paradas, C., Rivas-Infante, E., Dominguez, C., Hernandez-Lain, A., Lileker, J., Roberts, M., Suarez-Calvet, X.

Source: In Neuromuscular Disorders October 2023 33 Supplement 1:S67-S67

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Authors: Montano, V., Orsucci, D., Carelli, V., La Morgia, C., Valentino, M. L., Lamperti, C., Marchet, S., Musumeci, O., Toscano, A., Primiano, G., Santorelli, F. M., Ticci, C., Filosto, M., Rubegni, A., Mongini, T., Tonin, P., Servidei, S., Ceravolo, R., Siciliano, G., Mancuso, Michelangelo

Source: Journal of Neurology; Mar2022, Vol. 269 Issue 3, p1413-1421, 9p

Subject Terms: MOVEMENT disorders, MITOCHONDRIAL pathology, BASAL ganglia, DIAGNOSIS, GENETIC testing, WHITE matter (Nerve tissue), PARKINSONIAN disorders

Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

Authors: Naini, A. ^*, Musumeci, O., Hayes, L., Pallotti, F., Del Bene, M., Mitsumoto, H.

Source: In Journal of the Neurological Sciences 2002 198(1):17-19

IMAGING: EP.332 Patients with McArdle disease have increased fat replacement of paraspinal muscles on MRI: a European multicenter study

Authors: Løkken, N., Revsbech, K., Jacobsen, L., Martinuzzi, A., Toscano, A., Martin, M., Manera, J. Díaz, Stefan, C., Domínguez-González, C., Brondani, G., Musumeci, O., Merino-Sanchez, C., Nuñez, C., Montesinos, P., Granata, F., Khawajazada, T., Vissing, J.

Source: In Neuromuscular Disorders October 2021 31 Supplement 1:S151-S151

POMPE DISEASE: EP.198 Large-scale validation of the Rasch-built Pompe activity scale (R-PAct) across twelve countries

Authors: van Kooten, H., Horton, M., Wenninger, S., Schoser, B., Lefeuvre, C., Laforêt, P., Segovia, S., Manera, J. Díaz, Claeys, K., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Brusse, E., Merkies, I., van Doorn, P., van der Ploeg, A., van der Beek, N., R-PAct study group

Source: In Neuromuscular Disorders October 2021 31 Supplement 1:S109-S109

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P.357 - The EUROMAC registry for rare glycogen storage diseases: preliminary report

Authors: Scalco, R., Quinlivan, R., Lucia, A., Santalla, A., Martinuzzi, A., Toscano, A., Musumeci, O., Milan, B. San, Durmus, H., Voermans, N., Laforêt, P., Kuhnle, E., Martin, M., Siciliano, G., Sacconi, S., Ortega, X., Pinos, T., Marti, R., Vissing, J.

Source: In Neuromuscular Disorders October 2017 27 Supplement 2:S203-S204

P.358 - Report on nationwide Italian collaborative network for muscle glycogen storage disorders

Authors: Musumeci, O., Mongini, T., Angelini, C., Bruno, C., Moggio, M., Siciliano, G., Tonin, P., Maggi, L., Martinuzzi, A., Filosto, M., Servidei, S., Donati, A., Bembi, B., Toscano, A.

Source: In Neuromuscular Disorders October 2017 27 Supplement 2:S204-S204