DE BERARDINIS, TERESA
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.
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.
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia.
2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano
Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica
1998 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
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.
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
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
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.
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
Pharmacological denervation in the treatment of sixth cranial nerve palsy.
2001 Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa
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
Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12.
1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss
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
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.
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group
1999 G., Defazio; A., Berardelli; G., Abbruzzese; V., Coviello; F., Carella; DE BERARDINIS, Teresa; G., Galardi; P., Girlanda; S., Maurri; M., Mucchiut; A., Albanese; M., Basciani; L., Bertolasi; R., Liguori; N., Tambasco; L., Santoro; G., Assennato; P., Livrea
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
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
(1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica.
1998 Magli, A.; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
Oftalmoplegie familiari ad insorgenza precoce e tardiva.
1999 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
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. | |
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. | |
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 | |
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. | |
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. | |
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 | |
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 | |
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. | |
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 | |
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 | |
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 | |
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 | |
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 | |
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. | |
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group | 1.1 Articolo in rivista | 1999 | G., Defazio; A., Berardelli; G., Abbruzzese; V., Coviello; F., Carella; DE BERARDINIS, Teresa; G., Galardi; P., Girlanda; S., Maurri; M., Mucchiut; A., Albanese; M., Basciani; L., Bertolasi; R., Liguori; N., Tambasco; L., Santoro; G., Assennato; P., Livrea | |
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 | |
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 | |
(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. | |
Oftalmoplegie familiari ad insorgenza precoce e tardiva. | 1.1 Articolo in rivista | 1999 | Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V. |