Characterization of Toxoplasma gondii isolates in free-range chickens from Chile, South America von Dubey, J.P., Patitucci, A.N., Su, C., Sundar, N., Kwok, O.C.H., Shen, S.K.

Volltext

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments von Magariello, A, Russo, C, Citrigno, L, Züchner, S, Patitucci, A, Mazzei, R, Conforti, F.L, Ferlazzo, E, Aguglia, U, Muglia, M

Volltext

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum von Magariello, A., Citrigno, L., Zuchner, S., Gonzalez, M., Patitucci, A., Sofia, V., Conforti, F. L., Pappalardo, I., Mazzei, R., Ungaro, C., Zappia, M., Muglia, M.

Volltext

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness von Muglia, M, Citrigno, L, D'Errico, E, Magariello, A, Distaso, E, Gasparro, A.A, Scarafino, A, Patitucci, A, Conforti, F.L, Mazzei, R, Cortese, R, Tortelli, R, L. Simone, I

Volltext

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis von Conforti, F L, Sproviero, W, Simone, I L, Mazzei, R, Valentino, P, Ungaro, C, Magariello, A, Patitucci, A, La Bella, V, Sprovieri, T, Tedeschi, G, Citrigno, L, Gabriele, A L, Bono, F, Monsurrò, M R, Muglia, M, Gambardella, A, Quattrone, A

Volltext

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation von Mazzeo, A., Di Leo, R., Toscano, A., Muglia, M., Patitucci, A., Messina, C., Vita, G.

Volltext

CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene von Ungaro, C., Mazzei, R., Conforti, F.L., Sprovieri, T., Servillo, P., Liguori, M., Citrigno, L., Gabriele, A.L., Magariello, A., Patitucci, A., Muglia, M., Quattrone, A.

Volltext

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia von Magariello, A., Tortorella, C., Patitucci, A., Tortelli, R., Liguori, M., Mazzei, R., Conforti, F. L., Citrigno, L., Ungaro, C., Simone, I. L., Muglia, M.

Volltext

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy von Conforti, F.L, Sprovieri, T, Mazzei, R, Ungaro, C, La Bella, V, Tessitore, A, Patitucci, A, Magariello, A, Gabriele, A.L, Tedeschi, G, Simone, I.L, Majorana, G, Valentino, P, Condino, F, Bono, F, Monsurrò, M.R, Muglia, M, Quattrone, A

Volltext

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy von Muglia, M, Vazza, G, Patitucci, A, Milani, M, Pareyson, D, Taroni, F, Quattrone, A, Mostacciuolo, M L

Volltext

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL von MAZZEI, R, CONFORTI, F. L, FERA, F, VALENTINO, P, BONO, F, CENACCHI, G, SANTORO, G, MUGLIA, M, QUATTRONE, A, LANZA, P. L, SPROVIERI, T, LUPO, M. R, GALLO, O, PATITUCCI, A, MAGARIELLO, A, CARACCIOLO, M, GABRIELE, A. L

Volltext

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL von Mazzei, R, Guidetti, D, Ungaro, C, Conforti, F L, Muglia, M, Cenacchi, G, Lanza, P L, Patitucci, A, Sprovieri, T, Riguzzi, P, Magariello, A, Gabriele, A L, Citrigno, L, Preda, P, Quattrone, A

Volltext

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy von GAMBARDELLA, A, MUGLIA, M, ZAPPIA, M, QUATTRONE, A, LABATE, A, MAGARIELLO, A, GABRIELE, A. L, MAZZEI, R, PIRRITANO, D, CONFORTI, F. L, PATITUCCI, A, VALENTINO, P

Volltext

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis von CONFORTI, Francesca L, SPATARO, Rossella, MUGLIA, Maria, RODOLICO, Carmelo, VALENTINO, Paola, BONO, Francesco, COLLETTI, Tiziana, MONSURRO, Maria R, GAMBARDELLA, Antonio, LA BELLA, Vincenzo, SPROVIERO, William, MAZZEI, Rosalucia, CAVALCANTI, Francesca, CONDINO, Francesca, SIMONE, Isabella L, LOGROSCINO, Giancarlo, PATITUCCI, Alessandra, MAGARIELLO, Angela

Volltext

Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy von MUGLIA, M, ZAPPIA, M, NICOLETTI, G, PATITUCCI, A. M, OLIVERI, R. L, BONO, F, GAMBARDELLA, A, QUATTRONE, A, TIMMERMAN, V, VALENTINO, P, GABRIELE, A. L, CONFORTI, F. L, DE JONGHE, P, RAGNO, M, MAZZEI, R, SABATELLI, M

Volltext

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 von Muglia, M, Magariello, A, Citrigno, L, Passamonti, L, Sprovieri, T, Conforti, FL, Mazzei, R, Patitucci, A, Gabriele, AL, Ungaro, C, Bellesi, M, Quattrone, A

Volltext

Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P) von VALENTINO, P, CONFORTI, F. L, GAMBARDELLA, A, ZAPPIA, M, QUATTRONE, A, PIRRITANO, D, NISTICB, R, MAZZEI, R, PATITUCCI, A, SPROVIERI, T, GABRIELE, A. L, MUGLIA, M, CLODOMIRO, A

Volltext

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype von Malandrini, A, Gambelli, S, Muglia, M, Berti, G, Patitucci, A, Sugie, K, Umehara, F, Quattrone, A, Dotti, M T, Federico, A

Volltext

Gene symbol: NOTCH3 von Mazzei, R, Conforti, F L, Ungaro, C, Liguori, M, Sprovieri, T, Patitucci, A, Magariello, A, Gabriele, A L, Muglia, M, Quattrone, A

Volltext

Prevalence of chronic kidney disease in patients with type 2 diabetes in Spain: PERCEDIME2 study von Rodriguez-Poncelas, Antonio, Garre-Olmo, Josep, Franch-Nadal, Josep, Diez-Espino, Javier, Mundet-Tuduri, Xavier, Barrot-De la Puente, Joan, Coll-de Tuero, Gabriel

Volltext