Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome von Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L

Volltext

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE von Maselli, RA, Arredondo, J, Cagney, O, Mozaffar, T, Skinner, S, Yousif, S, Davis, RR, Gregg, JP, Sivak, M, Konia, TH, Thomas, K, Wollmann, RL

Volltext

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia von Maselli, R.A., Arredondo, J., Nguyen, J., Lara, M., Ng, F., Ngo, M., Pham, J.M., Yi, Q., Stajich, J.M., McDonald, K., Hauser, M.A., Wollmann, R.L.

Volltext

Morvan’s fibrillary chorea: a paraneoplastic manifestation of thymoma von Lee, E K, Maselli, R A, Ellis, W G, Agius, M A

Volltext

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2 von MASELLI, R. A, WAN, J, DUNNE, V, GRAVES, M, BALOH, R. W, WOLLMANN, R. L, JEN, J

Volltext

Presynaptic congenital myasthenic syndrome due to quantal release deficiency von MASELLI, R. A, KONG, D. Z, BOWE, C. M, MCDONALD, C. M, ELLIS, W. G, AGIUS, M. A, GOMEZ, C. M, RICHMAN, D. P, WOLLMANN, R. L

Volltext

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations von Maselli, RA, Dris, H, Schnier, J, Cockrell, JL, Wollmann, RL

Volltext

Neuromuscular transmission in amyotrophic lateral sclerosis von Maselli, Ricardo A., Wollman, Robert L., Leung, Cynthia, Distad, Barbara, Palombi, Sandra, Richman, David P., Salazar-Grueso, Edgar F., Roos, Raymond P.

Volltext

Fulminant demyelinating neuropathy mimicking cerebral death von Bakshi, Nandini, Maselli, Ricardo A., Gospe Jr, Sidney M., Ellis, William G., McDonald, Craig, Mandler, Raul N.

Volltext

Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study von Maselli, Ricardo A., Ellis, William, Mandler, Raul N., Sheikh, Firdos, Venton, Grace, Knox, Stephen, Salari-Namin, Hamid, Agius, Mark, Wollmann, Robert L., Richman, David P.

Volltext

End-plate electromyography: Use of spectral analysis of end-plate noise von Maselli, Ricardo A.

Volltext

Stimulated single-fiber electromyography in wound botulism von Mandler, Raul N., Maselli, Ricardo A.

Volltext

Analysis of anticholinesterase-induced neuromuscular transmission failure von Maselli, Ricardo A., Leung, Cynthia

Volltext

Botulism von Maselli, Ricardo A., Bakshi, Nandini

Volltext

Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome von Gomez, Christopher M, Maselli, Ricardo A, Groshong, Jason, Zayas, Roberto, Wollmann, Robert L, Cens, Thierry, Charnet, Pierre

Volltext

Absence of F waves in heat stroke von Bakshi, Nandini, Maselli, Ricardo A.

Volltext

Analysis of the organophosphate-induced electromyographic response to repetitive nerve stimulation: Paradoxical response to edrophonium and D-Tubocurarine von Maselli, Ricardo A., Soliven, Betty C.

Volltext

Higher blood eosinophil levels after omalizumab treatment may be associated with poorer asthma outcomes von Sposato, Bruno, Scalese, Marco, Milanese, Manlio, Masieri, Simonetta, Cavaliere, Carlo, Latorre, Manuela, Scichilone, Nicola, Ricci, Alberto, Cresti, Alberto, Santus, Pierachille, Olivieri, Carmela, Perrella, Antonio, Rogliani, Paola, Paggiaro, Pierluigi, Sposato, B., Migliorini, M.G., Di Tomassi, M., Olivieri, C., Perrella, A., Camiciottoli, G., Maselli, R., Pelaia, G., Busceti, M.T., Sabato, E., Cagnazzo, M.G., Colombo, F., Palumbo, L., Ravazzi, A., Bucca, C., Caiaffa, M.F., Berra, A., Calabrese, C., Stanziola, A.A., Schino, P., Di Gioacchino, M., Rogliani, P., Cazzola, M., Segreti, A., Pastorello, E.A., Scibilia, G., Vianello, A., Marchi, M.R., Paladini, L., Baglioni, S., Abbritti, M., Almerigogna, F., Matucci, A., Vultaggio, A., Maggi, E., Maestrelli, P., Guarnieri, G., Steinhilber, G., Bonavia, M., Rottoli, P., Bargagli, E., Senna, G., Caminati, M., Macchia, L., Bellia, V., Scichilone, N., Paggiaro, P., Novelli, F., Latorre, M., Vergura, L., Masieri, S., Scalese, M., Rosati, Y., Milanese, M., Folletti, I., Pio, R., Pio, A., Maccari, U., Maggiorelli, C., Scala, R., Vignale, L., Pulerà, N., Carpagnano, G.E., Foschino Barbaro, M.P.

Volltext

Episodic nocturnal wanderings in non-epileptic young patients von MASELLI, R. A, ROSENBERG, R. S, SPIRE, J. -P

Volltext

Persistence of both reversible airway obstruction and higher blood eosinophils may predict lung function decline in severe asthma von Sposato, Bruno, Scalese, Marco, Ricci, Alberto, Rogliani, Paola, Paggiaro, Pierluigi, Sposato, B., Migliorini, M. G., Di Tomassi, M., Olivieri, C., Perrella, A., Camiciottoli, G., Maselli, R., Pelaia, G., Busceti, M. T., Sabato, E., Cagnazzo, M. G., Colombo, F., Palumbo, L., Ravazzi, A., Bucca, C., Caiaffa, M. F., Berra, A., Calabrese, C., Stanziola, A. A., Schino, P., Di Gioacchino, M., Rogliani, P., Cazzola, M., Segreti, A., Pastorello, E. A., Scibilia, G., Vianello, A., Marchi, M. R., Paladini, L., Baglioni, S., Abbritti, M., Almerigogna, F., Matucci, A., Vultaggio, A., Maggi, E., Maestrelli, P., Guarnieri, G., Steinhilber, G., Bonavia, M, Rottoli, P., Bargagli, E., Senna, G., Caminati, M., Macchia, L., Bellia, V., Scichilone, N., Paggiaro, P., Novelli, F., Latorre, M., Vergura, L., Masieri, S., Scalese, M., Rosati, Y., Milanese, M., Folletti, I., Pio, R., Pio, A., Maccari, U., Maggiorelli, C., Scala, R., Vignale, L., Pulerà, N., Carpagnano, G. E., Foschino Barbaro, M. P.

Volltext