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Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity.
2003-01-01 Valente, Enza Maria; Misbahuddin, A; Brancati, F; Placzek, Mr; Garavaglia, B; Salvi, S; Nemeth, A; Shaw Smith, C; Nardocci, N; Bentivoglio, Ar; Berardelli, A; Eleopra, R; Dallapiccola, B; Warner, Tt
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
2007-01-01 Clarimon, J; Brancati, F; Peckham, E; Valente, Enza Maria; Dallapiccola, B; Abbruzzese, G; Girlanda, P; Defazio, G; Berardelli, A; Hallett, M; Singleton, Ab
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
2011-01-01 Ross, Oa; Soto Ortolaza, Ai; Heckman, Mg; Aasly, Jo; Abahuni, N; Annesi, G; Bacon, Ja; Bardien, S; Bozi, M; Brice, A; Brighina, L; Van Broeckhoven, C; Carr, J; Chartier Harlin, Mc; Dardiotis, E; Dickson, Dw; Diehl, Nn; Elbaz, A; Ferrarese, C; Ferraris, A; Fiske, B; Gibson, Jm; Gibson, R; Hadjigeorgiou, Gm; Hattori, N; Ioannidis, Jp; Jasinska Myga, B; Jeon, Bs; Kim, Yj; Klein, C; Kruger, R; Kyratzi, E; Lesage, S; Lin, Ch; Lynch, T; Maraganore, Dm; Mellick, Gd; Mutez, E; Nilsson, C; Opala, G; Park, Ss; Puschmann, A; Quattrone, A; Sharma, M; Silburn, Pa; Sohn, Yh; Stefanis, L; Tadic, V; Theuns, J; Tomiyama, H; Uitti, Rj; Valente, Enza Maria; van de Loo, S; Vassilatis, Dk; Vilariño Güell, C; White, Lr; Wirdefeldt, K; Wszolek, Zk; Wu, Rm; Farrer, Mj; GEO PD, Consortium
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
2014-01-01 A., Poretti; M., Häusler; A. v., Moers; B., Baumgartner; K., Zerres; A., Klein; C., Aiello; F., Moro; G., Zanni; F. M., Santorelli; T. A., G; J., Weis; Valente, Enza Maria; E., Bertini; E., Boltshauser
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
2006-01-01 Gambarin, M; Valente, Enza Maria; Liberini, P; Barrano, G; Bonizzato, A; Padovani, A; Moretto, G; Fiorio, M; Dallapiccola, B; Smania, N; Fiaschi, A; Tinazzi, M.
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
2004-01-01 Novelli, A; Valente, Enza Maria; Bernardini, L; Ceccarini, C; Sinibaldi, L; Caputo, V; Cavalli, P; Dallapiccola, B.
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
2003-01-01 Brancati, F; Valente, Enza Maria; Tadini, G; Caputo, V; Di Benedetto, A; Gelmetti, C; Dallapiccola, B.
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.
2009-01-01 Martino, D; Muglia, M; Abbruzzese, G; Berardelli, A; Girlanda, P; Liguori, M; Livrea, P; Quattrone, A; Roselli, F; Sprovieri, T; Valente, Enza Maria; Defazio, G.
Candidate genes for Parkinson disease: Lessons from pathogenesis
2015-01-01 De Rosa, Priscilla; Marini, Elettra Sara; Gelmetti, Vania; Valente, Enza Maria
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
2009-01-01 Mougou Zerelli, S; Thomas, S; Szenker, E; Audollent, S; Elkhartoufi, N; Babarit, C; Romano, S; Salomon, R; Amiel, J; Esculpavit, C; Gonzales, M; Escudier, E; Leheup, B; Loget, P; Odent, S; Roume, J; Gérard, M; Delezoide, Al; Khung, S; Patrier, S; Cordier, Mp; Bouvier, R; Martinovic, J; Gubler, Mc; Boddaert, N; Munnich, A; Encha Razavi, F; Valente, Enza Maria; Saad, A; Saunier, S; Vekemans, M; Attié Bitach, T.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. | 1-gen-2003 | Valente, Enza Maria; Misbahuddin, A; Brancati, F; Placzek, Mr; Garavaglia, B; Salvi, S; Nemeth, A; Shaw Smith, C; Nardocci, N; Bentivoglio, Ar; Berardelli, A; Eleopra, R; Dallapiccola, B; Warner, Tt | |
| Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. | 1-gen-2007 | Clarimon, J; Brancati, F; Peckham, E; Valente, Enza Maria; Dallapiccola, B; Abbruzzese, G; Girlanda, P; Defazio, G; Berardelli, A; Hallett, M; Singleton, Ab | |
| Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. | 1-gen-2011 | Ross, Oa; Soto Ortolaza, Ai; Heckman, Mg; Aasly, Jo; Abahuni, N; Annesi, G; Bacon, Ja; Bardien, S; Bozi, M; Brice, A; Brighina, L; Van Broeckhoven, C; Carr, J; Chartier Harlin, Mc; Dardiotis, E; Dickson, Dw; Diehl, Nn; Elbaz, A; Ferrarese, C; Ferraris, A; Fiske, B; Gibson, Jm; Gibson, R; Hadjigeorgiou, Gm; Hattori, N; Ioannidis, Jp; Jasinska Myga, B; Jeon, Bs; Kim, Yj; Klein, C; Kruger, R; Kyratzi, E; Lesage, S; Lin, Ch; Lynch, T; Maraganore, Dm; Mellick, Gd; Mutez, E; Nilsson, C; Opala, G; Park, Ss; Puschmann, A; Quattrone, A; Sharma, M; Silburn, Pa; Sohn, Yh; Stefanis, L; Tadic, V; Theuns, J; Tomiyama, H; Uitti, Rj; Valente, Enza Maria; van de Loo, S; Vassilatis, Dk; Vilariño Güell, C; White, Lr; Wirdefeldt, K; Wszolek, Zk; Wu, Rm; Farrer, Mj; GEO PD, Consortium | |
| Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? | 1-gen-2014 | A., Poretti; M., Häusler; A. v., Moers; B., Baumgartner; K., Zerres; A., Klein; C., Aiello; F., Moro; G., Zanni; F. M., Santorelli; T. A., G; J., Weis; Valente, Enza Maria; E., Bertini; E., Boltshauser | |
| Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. | 1-gen-2006 | Gambarin, M; Valente, Enza Maria; Liberini, P; Barrano, G; Bonizzato, A; Padovani, A; Moretto, G; Fiorio, M; Dallapiccola, B; Smania, N; Fiaschi, A; Tinazzi, M. | |
| Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family. | 1-gen-2004 | Novelli, A; Valente, Enza Maria; Bernardini, L; Ceccarini, C; Sinibaldi, L; Caputo, V; Cavalli, P; Dallapiccola, B. | |
| Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. | 1-gen-2003 | Brancati, F; Valente, Enza Maria; Tadini, G; Caputo, V; Di Benedetto, A; Gelmetti, C; Dallapiccola, B. | |
| Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. | 1-gen-2009 | Martino, D; Muglia, M; Abbruzzese, G; Berardelli, A; Girlanda, P; Liguori, M; Livrea, P; Quattrone, A; Roselli, F; Sprovieri, T; Valente, Enza Maria; Defazio, G. | |
| Candidate genes for Parkinson disease: Lessons from pathogenesis | 1-gen-2015 | De Rosa, Priscilla; Marini, Elettra Sara; Gelmetti, Vania; Valente, Enza Maria | |
| CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. | 1-gen-2009 | Mougou Zerelli, S; Thomas, S; Szenker, E; Audollent, S; Elkhartoufi, N; Babarit, C; Romano, S; Salomon, R; Amiel, J; Esculpavit, C; Gonzales, M; Escudier, E; Leheup, B; Loget, P; Odent, S; Roume, J; Gérard, M; Delezoide, Al; Khung, S; Patrier, S; Cordier, Mp; Bouvier, R; Martinovic, J; Gubler, Mc; Boddaert, N; Munnich, A; Encha Razavi, F; Valente, Enza Maria; Saad, A; Saunier, S; Vekemans, M; Attié Bitach, T. |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 162
- 1 Contributo su Rivista::1.1.2 Ar... 162
Data di pubblicazione
- 2010 - 2015 68
- 2000 - 2009 82
- 1996 - 1999 12
Rivista
- MOVEMENT DISORDERS 32
- ANNALS OF NEUROLOGY 10
- HUMAN MUTATION 9
- NEUROLOGY 8
- AMERICAN JOURNAL OF HUMAN GENETICS 7
- JOURNAL OF NEUROLOGY, NEUROSURGER... 6
- NATURE GENETICS 6
- ORPHANET JOURNAL OF RARE DISEASES 5
- EUROPEAN JOURNAL OF HUMAN GENETICS 4
- JOURNAL OF MEDICAL GENETICS 4
Keyword
- Humans 4
- Female 3
- Male 3
- Mutation 3
- Cerebellar Diseases 2
- Cystic 2
- Eye Abnormalities 2
- Kidney Diseases 2
- Phenotype 2
- Retina 2
Lingua
- eng 106
- und 44
- ita 2
Accesso al fulltext
- no fulltext 162