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.
(1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica.
1998 Magli, A.; 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
: BMC Genet. 2002;3(1):3. Epub 2002 Mar 06. 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; Ballard, E; Ruttum, M; Matsumoto, N; Saito, N; Collins, Ml; Morris, L; DEL MONTE, M; Magli, A; DE BERARDINIS, Teresa; DIVISION OF, Genetics; Childrens, Hospital; Boston, Ma; U. S., A.
Treatment of blepharospasm with botulinum neurotoxin type A: long-term results.
2003 Calace, P; Cortese, G; Piscopo, R; Della Volpe, G; Gagliardi, V; Magli, A; De Berardinis, Teresa; Department Of Ophthalmologic, Sciences; Faculty Of Medicine And, Surgery; University Federico, Ii; Napoli, Italy
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.
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
Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12.
1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss
Oftalmoplegie familiari ad insorgenza precoce e tardiva.
1999 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.
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
Clinical and surgical data of affected members of a classic CFEOM 1 family.
2003 Magli, A; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.; DIPARTIMENTO DI SCIENZE OFTALMOLOGICHE FACOLTA DI MEDICINA, E. CHIRURGIA UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO I. I.
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
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
2003 Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C.
| 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. | |
| (1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica. | 1.1 Articolo in rivista | 1998 | Magli, A.; 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 | |
| : BMC Genet. 2002;3(1):3. Epub 2002 Mar 06. 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; Ballard, E; Ruttum, M; Matsumoto, N; Saito, N; Collins, Ml; Morris, L; DEL MONTE, M; Magli, A; DE BERARDINIS, Teresa; DIVISION OF, Genetics; Childrens, Hospital; Boston, Ma; U. S., A. | |
| Treatment of blepharospasm with botulinum neurotoxin type A: long-term results. | 1.1 Articolo in rivista | 2003 | Calace, P; Cortese, G; Piscopo, R; Della Volpe, G; Gagliardi, V; Magli, A; De Berardinis, Teresa; Department Of Ophthalmologic, Sciences; Faculty Of Medicine And, Surgery; University Federico, Ii; Napoli, Italy | |
| 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. | |
| 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 | |
| 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 | |
| Oftalmoplegie familiari ad insorgenza precoce e tardiva. | 1.1 Articolo in rivista | 1999 | Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V. | |
| 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 | |
| Clinical and surgical data of affected members of a classic CFEOM 1 family. | 1.1 Articolo in rivista | 2003 | Magli, A; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.; DIPARTIMENTO DI SCIENZE OFTALMOLOGICHE FACOLTA DI MEDICINA, E. CHIRURGIA UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO I. I. | |
| 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 | |
| Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). | 1.1 Articolo in rivista | 2003 | Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C. |