Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients
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Published in Neuropediatrics (01.02.2005)
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A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
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Published in Neurology (10.08.2004)
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Juvenile Huntington's disease presenting as progressive myoclonic epilepsy
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A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2
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First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
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Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)
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Modelling seasonal variations of natural radionuclides in agricultural soils
Guagliardi, I., Buttafuoco, G., Ricca, N., Cipriani, M. G., Civitelli, D., Froio, R., Gabriele, A. L., Rosa, R. De
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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)
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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)
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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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Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy
Muglia, M, Zappia, M, Timmerman, V, Valentino, P, Gabriele, A L, Conforti, F L, De Jonghe, P, Ragno, M, Mazzei, R, Sabatelli, M, Nicoletti, G, Patitucci, A M, Oliveri, R L, Bono, F, Gambardella, A, Quattrone, A
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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.
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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)
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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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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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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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Gene symbol: MECP2. Disease: Rett syndrome
Conforti, F L, Mazzei, R, Sprovieri, T, Ungaro, C, Patitucci, A, Magariello, A, Gabriele, A L, Bravaccio, C, Muglia, M, Quattrone, A
Published in Human genetics (01.07.2006)
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Published in Human genetics (01.07.2006)
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A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene
Annesi, G, Muglia, M, Conforti, F L, Leone, O, Grandinetti, C, Imbrogno, E, Gabriele, A L, Naso, F, Brancati, C
Published in Human heredity (01.01.1997)
Published in Human heredity (01.01.1997)
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Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease
Muglia, M, Leone, O, Annesi, G, Gabriele, AL, Imbrogno, E, Grandinetti, C, Conforti, FL, Naso, F, Brancati, C
Published in Clinical chemistry (Baltimore, Md.) (01.10.1996)
Published in Clinical chemistry (Baltimore, Md.) (01.10.1996)
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