A 71‐nucleotide deletion in the periaxin gene in an Italian patient with late‐onset slowly progressive demyelinating Charcot‐Marie‐Tooth disease von Citrigno, L., Zoccolella, S., Lastella, P., Simone, I. L., Muglia, M.

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Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia von Citrigno, L., Magariello, A., Pugliese, P., Di Palma, G., Conforti, F. L., Petrone, A., Muglia, M.

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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

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Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia von McCorquodale III, DS, Ozomaro, U, Huang, J, Montenegro, G, Kushman, A, Citrigno, L, Price, J, Speziani, F, Pericak-Vance, MA, Züchner, S

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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.

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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

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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

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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.

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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.

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A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype von Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A.

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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

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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

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Further evidence that DDHD 2 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.

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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

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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

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A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype von Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A.

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SMN1 gene copy number analyses for SMA healthy carriers in Italian population von Patitucci, Alessandra, Magariello, Angela, Ungaro, Carmine, Muglia, Maria, Conforti, Francesca L., Gabriele, Anna L., Citrigno, Luigi, Sproviero, William, Mazzei, Rosalucia

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