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GABRIELE, ANNA LIA

GABRIELE, ANNA LIA  

Istituto per i Sistemi Agricoli e Forestali del Mediterraneo - ISAFOM  

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Risultati 1 - 20 di 230 (tempo di esecuzione: 0.02 secondi).
Titolo Data di pubblicazione Autore(i) File
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 1-gen-2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 1-gen-2006 L Gabriele, A; Ruggieri, M; Nucifora, C; Patitucci, A; Sprovieri, T; Magariello, A; Mazzei, R; L Conforti, F; Cungaro, ; Muglia, M; Quattrone, A
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 1-gen-2002 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Caracciolo, M; Casari, G; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 1-gen-2003 Patitucci, A; Magariello, A; Gabriele, Al; Mazzei, R; Conforti, Fl; Sprovieri, T; Peluso, G; Amati, A; Serlenga, L; Mmuglia,
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers 1-gen-2003 Patitucci A.; Mazzei R.; Conforti FL.; Magariello A.; Sprovieri T.; Gabriele AL.; Peluso G.; Di Palma G.;M.Muglia
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). 1-gen-2004 Conforti, Fl; Muglia, M; Mazzei, R; Patitucci, A; Valentino, P; Magariello, A; Sprovieri, T; Bono, F; Bergmann, C; Gabriele, Al; Peluso, G; Nisticò, R; Senderek, J; Quattrone, A
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. 1-gen-2008 Conforti, Fl; Sprovieri, T; Mazzei, R; Ungaro, C; La Bella, V; Tessitore, A; Patitucci, A; Magariello, A; Gabriele, Al; Tedeschi, G; Simone, Il; Majorana, G; Valentino, P; Condino, F; Bono, F; Monsurrò, Mr; Muglia, M Quattrone A
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy 1-gen-2007 T. Sprovieri; M. Fusaro; C. Ungaro; R. Mazzei; A. Magariello; A. Patitucci; L. Citrigno; V. La Bella;A. Gabriele; M. Muglia; F.L. Conforti
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 1-gen-2007 A Magariello; L Citrigno; L Passamonti; A Patitucci; FL Conforti; AL Gabriele; R Mazzei; T Sprovieri; C Ungaro; M Bellesi; M Muglia
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 1-gen-2007 Muglia, Maria; Magariello, Angela; Citrigno, Luigi; Passamonti, Luca; Patitucci, Alessandra; Conforti, FRANCESCA LUISA; Gabriele, ANNA LIA; Mazzei, Rosalucia; Sprovieri, Teresa; Ungaro, Carmine; Bellesi, Michele; Quattrone, Aldo
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 1-gen-2008 Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, Fl; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 1-gen-2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER 1-gen-2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 1-gen-2008 A Magariello; L Citrigno; A Patitucci; R. Mazzei; FL Conforti; AL Gabriele; T Sprovieri; C Ungaro; M Muglia.
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis 1-gen-2002 Mazzei, R; Conforti, Fl; Magariello, A; Bravaccio, C; Militerni, R; Gabriele, Al; Sampaolo, S; Patitucci, A; Di Iorio, G; Muglia, M; Quattrone, A
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 1-gen-2001 Oliveri, Rl; Muglia, M; De Stefano, N; Mazzei, R; Labate, A; Conforti, Fl; Patitucci, A; Gabriele, Al; Tagarelli, G; Magariello, A; Zappia, M; Gambardella, A; Federico, A; Quattrone, A
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 1-gen-2008 Sprovieri, T; Fiumara, A; Mazzei, R; Ungaro, C; Magariello, A; Patitucci, A; Citrigno, L; Arena, A; Gabriele, Al; Muglia, M; Conforti, Fl
A Novel Mutation in the X-Linked Cyclin-Dependent Kinaselike 5 (CDKL5) Gene Associated with a Severe Rett Phenotype 1-gen-2008 F. L. Conforti; T. Sprovieri; A. Fiumara; R. Mazzei; C. Ungaro; A. Magariello; A. Patitucci; L. Citrigno; A. Arena; A. Gabriele; M. Muglia; A. Quattrone.
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 1-gen-2011 Gabriele, Al; Ruggieri, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Muglia, M; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. 1-gen-2010 Gabriele, Al; Ruggeri, M; Muglia, M; Patitucci, A; Magariello, A; Mazzei, R; Conforti, Fl; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A