DE BERARDINIS, TERESA
DE BERARDINIS, TERESA
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica
1998 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
2011 Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
2008 Ginocchio, V. M.; DE BRASI, D.; Genesio, R.; Ciccone, R.; Gimelli, S.; Fimiani, F.; DE BERARDINIS, Teresa; Nitsch, Lucio; Banfi, S.; Magli, Adriano; DELLA CASA, Roberto
Clinical and surgical data of affected members of a classic CFEOM 1 family.
2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
2002 ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa
Clinical and surgical data of affected members of a classic CFEOM 1 family.
2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia.
2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family.
2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; Magli, Adriano
Oftalmoplegia congenita esterna:conferma della presenza di un locus genetico sul cromosoma 12.
1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, S. S.
Studio del metabolismo mitocondriale (curva lattato ed enzimi mitocondriali su piastrine ) in 4 pazienti affetti da oftalmoplegia congenita esterna cronica progressiva ad esordio infantile
1992 Vastarella, P.; Santorelli, F.; DE BERARDINIS, Teresa; Banfi, S.; Gasparro Rippa, P.; A., Magli
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family
2001 Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1), additional CFEOM1 families, and a reduction of the critical region on chromosome 12.
2000 Engle, E. C.; Mcintosh, N.; Lee, B. A.; Jhonson, R; O'Keefe, M.; Letson, R.; Krawiecki, N.; Shoffner, J; Ruttum, M; Sabol, Lj; Magli, Adriano; DE BERARDINIS, Teresa
Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12.
1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family.
2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli
Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus.
2007 Cesarelli, M.; Bifulco, P.; Romano, M.; Pasquariello, G.; Fratini, A.; Loffredo, L.; Magli, A.; DE BERARDINIS, Teresa
Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group.
1998 Defazio, G; Berardelli, A; Abbruzzese, G; Lepore, V; Coviello, V; Acquistapace, D; Capus, L; Carella, F; DE BERARDINIS, Teresa; Galardi, G; Girlanda, P; Maurri, S; Albanese, A; Bertolasi, L; Liguori, R; Rossi, A; Santoro, L; Tognoni, G; Livrea, P.
Pharmacological denervation in the treatment of sixth cranial nerve palsy.
2001 Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa
Le Varietà di strabismo sensibili al trattamento con tossina botulinica
1998 Calace, P.; Magli, Adriano; DE BERARDINIS, Teresa
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family
2001 A., Magli; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. | 1.1 Articolo in rivista | 2010 | Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C. | |
| Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica | 4.1 Articoli in Atti di convegno | 1998 | Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G. | |
| Molecular and clinical characterization of albinism in a large cohort of Italian patients. | 1.1 Articolo in rivista | 2011 | Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria | |
| Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. | 1.1 Articolo in rivista | 2008 | Ginocchio, V. M.; DE BRASI, D.; Genesio, R.; Ciccone, R.; Gimelli, S.; Fimiani, F.; DE BERARDINIS, Teresa; Nitsch, Lucio; Banfi, S.; Magli, Adriano; DELLA CASA, Roberto | |
| Clinical and surgical data of affected members of a classic CFEOM 1 family. | 1.1 Articolo in rivista | 2003 | Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V. | |
| CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. | 1.1 Articolo in rivista | 2002 | ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa | |
| Clinical and surgical data of affected members of a classic CFEOM 1 family. | 1.1 Articolo in rivista | 2003 | Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V. | |
| Surgical treatment of ptosis in chronic progressive external ophthalmoplegia. | 4.1 Articoli in Atti di convegno | 2001 | V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano | |
| Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. | 4.1 Articoli in Atti di convegno | 2003 | DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; Magli, Adriano | |
| Oftalmoplegia congenita esterna:conferma della presenza di un locus genetico sul cromosoma 12. | 4.1 Articoli in Atti di convegno | 1992 | D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, S. S. | |
| Studio del metabolismo mitocondriale (curva lattato ed enzimi mitocondriali su piastrine ) in 4 pazienti affetti da oftalmoplegia congenita esterna cronica progressiva ad esordio infantile | 1.1 Articolo in rivista | 1992 | Vastarella, P.; Santorelli, F.; DE BERARDINIS, Teresa; Banfi, S.; Gasparro Rippa, P.; A., Magli | |
| Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family | 4.1 Articoli in Atti di convegno | 2001 | Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco | |
| Congenital fibrosis of the extraocular muscles type 1 (CFEOM1), additional CFEOM1 families, and a reduction of the critical region on chromosome 12. | 5.14 Altro ministeriale | 2000 | Engle, E. C.; Mcintosh, N.; Lee, B. A.; Jhonson, R; O'Keefe, M.; Letson, R.; Krawiecki, N.; Shoffner, J; Ruttum, M; Sabol, Lj; Magli, Adriano; DE BERARDINIS, Teresa | |
| Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12. | 4.1 Articoli in Atti di convegno | 1992 | D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss | |
| Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. | 4.1 Articoli in Atti di convegno | 2003 | DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli | |
| Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus. | 4.1 Articoli in Atti di convegno | 2007 | Cesarelli, M.; Bifulco, P.; Romano, M.; Pasquariello, G.; Fratini, A.; Loffredo, L.; Magli, A.; DE BERARDINIS, Teresa | |
| Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group. | 1.1 Articolo in rivista | 1998 | Defazio, G; Berardelli, A; Abbruzzese, G; Lepore, V; Coviello, V; Acquistapace, D; Capus, L; Carella, F; DE BERARDINIS, Teresa; Galardi, G; Girlanda, P; Maurri, S; Albanese, A; Bertolasi, L; Liguori, R; Rossi, A; Santoro, L; Tognoni, G; Livrea, P. | |
| Pharmacological denervation in the treatment of sixth cranial nerve palsy. | 4.1 Articoli in Atti di convegno | 2001 | Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa | |
| Le Varietà di strabismo sensibili al trattamento con tossina botulinica | 1.1 Articolo in rivista | 1998 | Calace, P.; Magli, Adriano; DE BERARDINIS, Teresa | |
| Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family | 4.1 Articoli in Atti di convegno | 2001 | A., Magli; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco |