TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
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
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2011)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2011)
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Journal Article
The spectrum of Notch3 mutations in 28 Italian CADASIL families
Dotti, M T, Federico, A, Mazzei, R, Bianchi, S, Scali, O, Conforti, F L, Sprovieri, T, Guidetti, D, Aguglia, U, Consoli, D, Pantoni, L, Sarti, C, Inzitari, D, Quattrone, A
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2005)
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Journal Article
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia
Martino, D., Muglia, M., Abbruzzese, G., Berardelli, A., Girlanda, P., Liguori, M., Livrea, P., Quattrone, A., Roselli, F., Sprovieri, T., Valente, E. M., Defazio, G.
Published in European journal of neurology (01.08.2009)
Published in European journal of neurology (01.08.2009)
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Journal Article
CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene
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.
Published in Journal of neuroscience research (01.04.2009)
Published in Journal of neuroscience research (01.04.2009)
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Journal Article
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
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
Published in Neuromuscular disorders : NMD (01.01.2008)
Published in Neuromuscular disorders : NMD (01.01.2008)
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Journal Article
A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype
Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A.
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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Journal Article
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
Mazzei, R, Conforti, F L, Lanza, P L, Sprovieri, T, Lupo, M R, Gallo, O, Patitucci, A, Magariello, A, Caracciolo, M, Gabriele, A L, Fera, F, Valentino, P, Bono, F, Cenacchi, G, Santoro, G, Muglia, M, Quattrone, A
Published in Neurology (10.08.2004)
Published in Neurology (10.08.2004)
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Journal Article
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
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
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2008)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2008)
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Journal Article
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2
Muglia, M, Magariello, A, Citrigno, L, Passamonti, L, Sprovieri, T, Conforti, FL, Mazzei, R, Patitucci, A, Gabriele, AL, Ungaro, C, Bellesi, M, Quattrone, A
Published in Clinical genetics (01.05.2008)
Published in Clinical genetics (01.05.2008)
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Journal Article
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
Ungaro, C., Servillo, P., Mazzei, Rosalucia, Consoli, D., Conforti, F. L., Sprovieri, T., Lanza, P. L., Quattrone, A.
Published in Neurological sciences (01.06.2009)
Published in Neurological sciences (01.06.2009)
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Journal Article
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)
Valentino, P, Conforti, F L, Pirritano, D, Nisticò, R, Mazzei, R, Patitucci, A, Sprovieri, T, Gabriele, A L, Muglia, M, Clodomiro, A, Gambardella, A, Zappia, M, Quattrone, A
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Journal Article
Gene symbol: NOTCH3
Mazzei, R, Conforti, F L, Ungaro, C, Liguori, M, Sprovieri, T, Patitucci, A, Magariello, A, Gabriele, A L, Muglia, M, Quattrone, A
Published in Human genetics (01.04.2007)
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Published in Human genetics (01.04.2007)
Journal Article
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)
Conforti, F L, Muglia, M, Mazzei, R, Patitucci, A, Valentino, P, Magariello, A, Sprovieri, T, Bono, F, Bergmann, C, Gabriele, A L, Peluso, G, Nisticò, R, Senderek, J, Quattrone, A
Published in Neurology (12.10.2004)
Published in Neurology (12.10.2004)
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Journal Article
Gene symbol: MECP2. Disease: Rett syndrome
Conforti, F L, Mazzei, R, Patitucci, A, Magariello, A, Sprovieri, T, Ungaro, C, Gabriele, A L, Muglia, M, Del Giudice, E, Quattrone, A
Published in Human genetics (01.07.2006)
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Published in Human genetics (01.07.2006)
Journal Article
Gene conversion events in adult‐onset spinal muscular atrophy
Mazzei, R., Gambardella, A., Conforti, F. L., Magariello, A., Patitucci, A., Gabriele, A. L., Sprovieri, T., Labate, A., Valentino, P., Bono, F., Bonavita, S., Zappia, M., Muglia, M., Quattrone, A.
Published in Acta neurologica Scandinavica (01.02.2004)
Published in Acta neurologica Scandinavica (01.02.2004)
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Journal Article
Molecular evaluation of the NUP98/RAP1GDS1 gene frequency in adults with T-acute lymphoblastic leukemia
Cimino, G, Sprovieri, T, Rapanotti, MC, Foa, R, Mecucci, C, Mandelli, F
Published in Haematologica (Roma) (01.04.2001)
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Published in Haematologica (Roma) (01.04.2001)
Journal Article
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
MUGLIA, M, CRISCUOLO, C, CONFORTI, F. L, SPROVIERI, T, MORGANTE, L, EPIFANIO, A, LA SPINA, P, VALENTINO, P, GASPARINI, P, FILLA, A, QUATTRONE, A, MAGARIELLO, A, DE MICHELE, G, SCARANO, V, D'ADAMO, P, AMBROSIO, G, GABRIELE, A. L, PATITUCCI, A, MAZZEI, R
Published in Neurogenetics (01.02.2004)
Published in Neurogenetics (01.02.2004)
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Journal Article
An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene
Guidetti, D, Casali, B, Mazzei, R L, Cenacchi, G, De Berti, G, Zuccoli, G, Nicoli, D, Conforti, F L, Sprovieri, T, Pasquinelli, G, Brini, M
Published in Neurological sciences (01.02.2004)
Published in Neurological sciences (01.02.2004)
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Journal Article
Myeloperoxidase gene expression in non-infant pro-B acute lymphoblastic leukaemia with or without ALL1/AF4 transcript
SERRANO, J, LO COCO, F, CIMINO, G, SPROVIERI, T, ELIA, L, VITALE, A, GREGORJ, C, TAFURI, A, SANCHEZ, J, ROMAN, J, TORRES, A
Published in British journal of haematology (01.12.2000)
Published in British journal of haematology (01.12.2000)
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Journal Article
A retrospective evaluation of infant patients with acute lymphoblastic leukemia treated at a single institution
Luciani, M, Cimino, G, Angioni, A, Russo, L A, Sprovieri, T, De Rossi, G
Published in Haematologica (Roma) (01.05.1999)
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Published in Haematologica (Roma) (01.05.1999)
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