DE BERARDINIS, TERESA
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
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
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
Pharmacological denervation in the treatment of sixth cranial nerve palsy.
2001 P., Calace; DE BERARDINIS, Teresa; G., Cortese; V., Gagliardi; A., Magli
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
Pharmacological denervation in the treatment of sixth cranial nerve palsy.
2001 Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa
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
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
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.
: 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.
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia.
2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia.
2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; A., Magli
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
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
Oftalmoplegia Congenita Esterna: conferma della presenza di un locus genetico sul cromosoma 12.
1992 D'Esposito, F.; Magli, Adriano; DE BERARDINIS, Teresa; Bhattacharya, Ss
Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica
1998 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
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
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.
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
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 | |
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 | |
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 | |
Pharmacological denervation in the treatment of sixth cranial nerve palsy. | 4.1 Articoli in Atti di convegno | 2001 | P., Calace; DE BERARDINIS, Teresa; G., Cortese; V., Gagliardi; A., Magli | |
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 | |
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 | |
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 | |
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 | |
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. | |
: 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. | |
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 | |
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; A., Magli | |
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 | |
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 | |
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 | |
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. | |
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 | |
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. |