Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association von Pati, A. R., Capecchi, P. L., Malandrini, A., Federico, A., Mignarri, A.

Volltext

Diagnostic value of ultrastructural skin biopsy studies in cadasil von MALANDRINI, A, GAUDIANO, C, GAMBELLI, S, BERTI, G, SERNI, G, BIANCHI, S, FEDERICO, A, DOTTI, M. T

Volltext

Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery von Vinciguerra, C., Sicurelli, F., Fioravanti, A., Malandrini, A., Battisti, C., Federico, A.

Volltext

The ‘anvil’ profile in femtosecond laser‐assisted penetrating keratoplasty von Menabuoni, L., Canovetti, A, Rossi, F., Malandrini, A., Lenzetti, I., Pini, R.

Volltext

Transient “sicca syndrome” during phenobarbital treatment von Marino, D, Malandrini, A, Rocchi, R, Selvi, E, Federico, A

Volltext

G.P.311 von Baranello, G, Morandi, L, Sansanelli, S, Savadori, P, Saredi, S, Pantaleoni, C, Balestri, P, Malandrini, A, Arnoldi, M.T, Chiapparini, L, Mora, M

Volltext

Peripheral neuropathy in late-onset Krabbe disease: report of three cases von Malandrini, A., D’Eramo, C., Palmeri, S., Gaudiano, C., Gambelli, S., Sicurelli, F., Berti, G., Formichi, P., Kuqo, A., Dotti, M. T., Federico, A.

Volltext

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome von CARROZZO, R, TESSA, A, FEDERICO, A, BERTINI, E, SANTORELLI, F. M, VAZQUEZ-MEMIJE, M. E, PIEMONTE, F, PATRONO, C, MALANDRINI, A, DIONISI-VICI, C, VILARINHO, L, VILLANOVA, M, SCHÄGGER, H

Volltext

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type von GRIECO, G. S, MALANDRINI, A, FEDERICO, A, PIERELLI, F, BERTINI, E, CASALI, C, SANTORELLI, F. M, COMANDUCCI, G, LEUZZI, V, VALOPPI, M, TESSA, A, PALMERI, S, BENEDETTI, L, PIERALLINI, A, GAMBELLI, S

Volltext

Congenital myopathies: clinical phenotypes and new diagnostic tools von Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M

Volltext

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study von Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D'Amico, Adele, Santorelli, Filippo M

Volltext

Clinical and molecular findings in patients with giant axonal neuropathy (GAN) von BRUNO, C, BERTINI, E, SCHENONE, A, MALANDRINI, A, MINETTI, C, FEDERICO, A, TONOLI, E, LISPI, M. L, CASSANDRINI, D, PEDEMONTE, M, SANTORELLI, F. M, FILOCAMO, M, DOTTI, M. T

Volltext

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA von Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A

Volltext

Acute shoulder-girdle neuralgic amyotrophy Parsonage-Turner Syndrome with saphenous nerve involvement von GINANNESCHI, F, MALANDRINI, A, MONTI, L, ROSSI, A

Volltext

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene von Siciliano, G., Tessa, A., Petrini, S., Mancuso, M., Bruno, C., Grieco, G.S., Malandrini, A., DeFlorio, L., Martini, B., Federico, A., Nappi, G., Santorelli, F.M., Murri, L.

Volltext

Early visual function impairment in CADASIL von PARISI, V, PIERELLI, F, FATTAPPOSTA, F, BIANCO, F, PARISI, L, RESTUCCIA, R, MALANDRINI, A, FERRARI, M, CARRERA, P

Volltext

580P SYNE-1 and SYNE-2 mutations: expanding the phenotype and genotype spectrum of Nesprin myopathy von Cheli, M., Marchetto, G., Gibertini, S., Bruno, C., Filosto, M., Lattanzi, G., Fiorillo, C., Grandis, M., Malandrini, A., Maioli, M., Mandich, P., Massa, R., Matà, S., Melani, F., Maggi, L., Rubegni, A., Santorelli, F., Tonin, P., Cassandrini, D., Vattemi, G.

Volltext

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration von KRUER, Michael C, HIKEN, Mark, GREGORY, Allison, MALANDRINI, Alessandro, CLARK, David, HOGARTH, Penny, GRAFE, Marjorie, HAYFLICK, Susan J, WOLTJER, Randall L

Volltext

Peripheral neuropathy in CADASIL von SICURELLI, Francesco, DOTTI, Maria Teresa, DE STEFANO, Nicola, MALANDRINI, Alessandro, MONDELLI, Mauro, BIANCHI, Silvia, FEDERICO, Antonio

Volltext

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation von FEDERICO, A, SCALI, O, STROMILLO, M. L, DI PERRI, C, BIANCHI, S, SICURELLI, F, DE STEFANO, N, MALANDRINI, A, DOTTI, M. T

Volltext