Anna Lia Gabriele
Anna Lia Gabriele
Email verificata su cnr.it
TitoloCitata daAnno
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients
M Ruggieri, P Iannetti, A Polizzi, I La Mantia, A Spalice, O Giliberto, ...
Neuropediatrics 36 (01), 21-34, 2005
1052005
Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy
A Gambardella, M Muglia, A Labate, A Magariello, AL Gabriele, R Mazzei, ...
Neurology 57 (4), 708-711, 2001
752001
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
R Mazzei, FL Conforti, PL Lanza, T Sprovieri, MR Lupo, O Gallo, ...
Neurology 63 (3), 561-564, 2004
612004
Ophthalmological manifestations in segmental neurofibromatosis type 1
M Ruggieri, P Pavone, A Polizzi, M Di Pietro, A Scuderi, A Gabriele, ...
British journal of ophthalmology 88 (11), 1429-1433, 2004
582004
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
FL Conforti, T Sprovieri, R Mazzei, C Ungaro, V La Bella, A Tessitore, ...
Neuromuscular Disorders 18 (1), 68-70, 2008
562008
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
M Muglia, A Magariello, G Nicoletti, A Patitucci, AL Gabriele, FL Conforti, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
542002
Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy
M Muglia, M Zappia, V Timmerman, P Valentino, AL Gabriele, FL Conforti, ...
Neurology 56 (1), 100-103, 2001
432001
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
M Ruggieri, AL Gabriele, A Polizzi, V Salpietro, F Nicita, P Pavone, ...
neurogenetics 14 (2), 89-98, 2013
412013
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic …
RL Oliveri, M Muglia, N De Stefano, R Mazzei, A Labate, FL Conforti, ...
Archives of neurology 58 (9), 1418-1422, 2001
302001
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients
M Ruggieri, P Milone, P Pavone, R Falsaperla, A Polizzi, R Caltabiano, ...
American Journal of Medical Genetics Part A 158 (11), 2870-2880, 2012
292012
Neurofibromatosis type 1 and infantile spasms
M Ruggieri, P Iannetti, M Clementi, A Polizzi, G Incorpora, A Spalice, ...
Child's Nervous System 25 (2), 211, 2009
292009
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene
C Ungaro, R Mazzei, FL Conforti, T Sprovieri, P Servillo, M Liguori, ...
Journal of neuroscience research 87 (5), 1162-1167, 2009
282009
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
FL Conforti, T Sprovieri, R Mazzei, C Ungaro, A Tessitore, G Tedeschi, ...
Journal of negative results in biomedicine 5 (1), 7, 2006
272006
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
A Magariello, M Muglia, A Patitucci, R Mazzei, FL Conforti, AL Gabriele, ...
Neuromuscular Disorders 16 (6), 387-390, 2006
262006
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)
P Valentino, FL Conforti, D Pirritano, R Nisticò, R Mazzei, A Patitucci, ...
Neurology 64 (8), 1477-1478, 2005
252005
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
A Magariello, M Muglia, A Patitucci, C Ungaro, R Mazzei, AL Gabriele, ...
Journal of the neurological sciences 288 (1-2), 96-100, 2010
242010
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
M Muglia, C Criscuolo, A Magariello, G De Michele, V Scarano, ...
Neurogenetics 5 (1), 49-54, 2004
212004
Neurofibromatosis type 1 & related disorders
M Ruggieri, M Upadhyaya, C Di Rocco, A Gabriele, I Pascual-Castroviejo
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 51-151, 2008
202008
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)
FL Conforti, M Muglia, R Mazzei, A Patitucci, P Valentino, A Magariello, ...
Neurology 63 (7), 1327-1328, 2004
202004
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
FL Conforti, W Sproviero, IL Simone, R Mazzei, P Valentino, C Ungaro, ...
Journal of Neurology, Neurosurgery & Psychiatry 82 (5), 587-588, 2011
192011
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
Articoli 1–20