VALENTE, Enza Maria
VALENTE, Enza Maria
Dipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana”/DIPMED
"Gluing" phenotypes together: the case of GLUT1.
2011-01-01 Valente, Enza Maria; Albanese, A.
A family study on primary blepharospasm.
2006-01-01 Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Enza Maria; Brancati, F; Livrea, P; Berardelli, A.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
2014-01-01 S., Thomas; K. J., Wright; S. L., Corre; A., Micalizzi; M., Romani; A., Abhyankar; J., Saada; I., Perrault; J., Amiel; J., Litzler; E., Filhol; N., Elkhartoufi; M., Kwong; J., Casanova; N., Boddaert; W., Baehr; S., Lyonnet; A., Munnich; L., Burglen; N., Chassaing; F., Encha Ravazi; M., Vekemans; J. G., Gleeson; Valente, Enza Maria; P. K., Jackson; I. A., Drummond; S., Saunier; T., Attié Bitach
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
2004-01-01 Brancati, F; Valente, Enza Maria; Sarkozy, A; Feher, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B.
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
2000-01-01 Munchau, A; Valente, Enza Maria; Shahidi, Ga; Eunson, Lh; Hanna, Mg; Quinn, Np; Schapira, Ah; Wood, Nw; Bhatia, Kp
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.
2004-01-01 Woods, Cg; Valente, Enza Maria; Bond, J; Roberts, E.
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome.
2012-01-01 Mory, A; Dagan, E; Illi, B; Duquesnoy, P; Mordechai, S; Shahor, I; Romani, S; Hawash Moustafa, N; Mandel, H; Valente, Enza Maria; Amselem, S; Gershoni Baruch, R.
A novel family with an unusual early-onset generalized dystonia.
2005-01-01 Fabbrini, G; Brancati, F; Vacca, L; Valente, Enza Maria; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A.
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
2005-01-01 Castori, M; Valente, Enza Maria; Clementi, M; Tormene, Ap; Brancati, F; Caputo, V; Dallapiccola, B.
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
2014-01-01 Ginevra, Zanni; Sabina, Barresi; Roni, Cohen; Nicola, Specchio; Lina Basel, Vanagaite; Valente, Enza Maria; Avinoam, Shuper; Federico, Vigevano; Enrico, Bertini
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.
2000-01-01 Valente, Enza Maria; Spacey, Sd; Wali, Gm; Bhatia, Kp; Dixon, Ph; Wood, Nw; Davis, Mb
A solid quality-control analysis of AB SOLiD short-read sequencing data.
2013-01-01 S., Castellana; M., Romani; Valente, Enza Maria; T., Mazza
A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death.
2012-01-01 Lenzi, P; Marongiu, R; Falleni, A; Gelmetti, V; Busceti, Cl; Michiorri, S; Valente, Enza Maria; Fornai, F.
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome.
1996-01-01 Padua, L; Lo Monaco, M; Valente, Enza Maria; Tonali, Pa
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
2000-01-01 Munchau, A; Valente, Enza Maria; Davis, Mb; Stinton, V; Wood, Nw; Quinn, Np; Bhatia, Kp
Advances in the genetics of primary torsion dystonia
2010-01-01 Valente, Enza Maria; Albanese, A.
Age and sex prevalence estimate of Joubert syndrome in Italy
2020-01-01 Nuovo, S.; Bacigalupo, I.; Ginevrino, M.; Battini, R.; Bertini, E.; Borgatti, R.; Casella, A.; Micalizzi, A.; Nardella, M.; Romaniello, R.; Serpieri, V.; Zanni, G.; Valente, E. M.; Vanacore, N.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
2006-01-01 Valente, Enza Maria; Brancati, F; Silhavy, Jl; Castori, M; Marsh, Se; Barrano, G; Bertini, E; Boltshauser, E; Zaki, Ms; Abdel Aleem, A; Abdel Salam, Gm; Bellacchio, E; Battini, R; Cruse, Rp; Dobyns, Wb; Krishnamoorthy, Ks; Lagier Tourenne, C; Magee, A; Pascual Castroviejo, I; Salpietro, Cd; Sarco, D; Dallapiccola, B; Gleeson, Jg; International JSRD Study, Group
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
2010-01-01 Louie, Cm; Caridi, G; Lopes, Vs; Brancati, F; Kispert, A; Lancaster, Ma; Schlossman, Am; Otto, Ea; Leitges, M; Groene H., J; Lopez, I; Gudiseva, Hv; O'Toole, Jf; Vallespin, E; Ayyagari, R; Ayuso, C; Cremers, Fpm; den Hollander, Ai; Koenekoop, Rk; Dallapiccola, B; Ghiggeri, Gm; Hildebrandt, F; Valente, Enza Maria; Williams, Ds; Gleeson, J. G.
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
2013-01-01 Elia, A; Petrucci, S; Fasano, A; Guidi, M; Valbonesi, S; Bernardini, L; Consoli, F; Ferraris, A; Albanese, A; Valente, Enza Maria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "Gluing" phenotypes together: the case of GLUT1. | 1-gen-2011 | Valente, Enza Maria; Albanese, A. | |
| A family study on primary blepharospasm. | 1-gen-2006 | Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Enza Maria; Brancati, F; Livrea, P; Berardelli, A. | |
| A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. | 1-gen-2014 | S., Thomas; K. J., Wright; S. L., Corre; A., Micalizzi; M., Romani; A., Abhyankar; J., Saada; I., Perrault; J., Amiel; J., Litzler; E., Filhol; N., Elkhartoufi; M., Kwong; J., Casanova; N., Boddaert; W., Baehr; S., Lyonnet; A., Munnich; L., Burglen; N., Chassaing; F., Encha Ravazi; M., Vekemans; J. G., Gleeson; Valente, Enza Maria; P. K., Jackson; I. A., Drummond; S., Saunier; T., Attié Bitach | |
| A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. | 1-gen-2004 | Brancati, F; Valente, Enza Maria; Sarkozy, A; Feher, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B. | |
| A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. | 1-gen-2000 | Munchau, A; Valente, Enza Maria; Shahidi, Ga; Eunson, Lh; Hanna, Mg; Quinn, Np; Schapira, Ah; Wood, Nw; Bhatia, Kp | |
| A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. | 1-gen-2004 | Woods, Cg; Valente, Enza Maria; Bond, J; Roberts, E. | |
| A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. | 1-gen-2012 | Mory, A; Dagan, E; Illi, B; Duquesnoy, P; Mordechai, S; Shahor, I; Romani, S; Hawash Moustafa, N; Mandel, H; Valente, Enza Maria; Amselem, S; Gershoni Baruch, R. | |
| A novel family with an unusual early-onset generalized dystonia. | 1-gen-2005 | Fabbrini, G; Brancati, F; Vacca, L; Valente, Enza Maria; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A. | |
| A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. | 1-gen-2005 | Castori, M; Valente, Enza Maria; Clementi, M; Tormene, Ap; Brancati, F; Caputo, V; Dallapiccola, B. | |
| A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) | 1-gen-2014 | Ginevra, Zanni; Sabina, Barresi; Roni, Cohen; Nicola, Specchio; Lina Basel, Vanagaite; Valente, Enza Maria; Avinoam, Shuper; Federico, Vigevano; Enrico, Bertini | |
| A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. | 1-gen-2000 | Valente, Enza Maria; Spacey, Sd; Wali, Gm; Bhatia, Kp; Dixon, Ph; Wood, Nw; Davis, Mb | |
| A solid quality-control analysis of AB SOLiD short-read sequencing data. | 1-gen-2013 | S., Castellana; M., Romani; Valente, Enza Maria; T., Mazza | |
| A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. | 1-gen-2012 | Lenzi, P; Marongiu, R; Falleni, A; Gelmetti, V; Busceti, Cl; Michiorri, S; Valente, Enza Maria; Fornai, F. | |
| A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome. | 1-gen-1996 | Padua, L; Lo Monaco, M; Valente, Enza Maria; Tonali, Pa | |
| A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. | 1-gen-2000 | Munchau, A; Valente, Enza Maria; Davis, Mb; Stinton, V; Wood, Nw; Quinn, Np; Bhatia, Kp | |
| Advances in the genetics of primary torsion dystonia | 1-gen-2010 | Valente, Enza Maria; Albanese, A. | |
| Age and sex prevalence estimate of Joubert syndrome in Italy | 1-gen-2020 | Nuovo, S.; Bacigalupo, I.; Ginevrino, M.; Battini, R.; Bertini, E.; Borgatti, R.; Casella, A.; Micalizzi, A.; Nardella, M.; Romaniello, R.; Serpieri, V.; Zanni, G.; Valente, E. M.; Vanacore, N. | |
| AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. | 1-gen-2006 | Valente, Enza Maria; Brancati, F; Silhavy, Jl; Castori, M; Marsh, Se; Barrano, G; Bertini, E; Boltshauser, E; Zaki, Ms; Abdel Aleem, A; Abdel Salam, Gm; Bellacchio, E; Battini, R; Cruse, Rp; Dobyns, Wb; Krishnamoorthy, Ks; Lagier Tourenne, C; Magee, A; Pascual Castroviejo, I; Salpietro, Cd; Sarco, D; Dallapiccola, B; Gleeson, Jg; International JSRD Study, Group | |
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | 1-gen-2010 | Louie, Cm; Caridi, G; Lopes, Vs; Brancati, F; Kispert, A; Lancaster, Ma; Schlossman, Am; Otto, Ea; Leitges, M; Groene H., J; Lopez, I; Gudiseva, Hv; O'Toole, Jf; Vallespin, E; Ayyagari, R; Ayuso, C; Cremers, Fpm; den Hollander, Ai; Koenekoop, Rk; Dallapiccola, B; Ghiggeri, Gm; Hildebrandt, F; Valente, Enza Maria; Williams, Ds; Gleeson, J. G. | |
| Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. | 1-gen-2013 | Elia, A; Petrucci, S; Fasano, A; Guidi, M; Valbonesi, S; Bernardini, L; Consoli, F; Ferraris, A; Albanese, A; Valente, Enza Maria |