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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.
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
An SCN9A channelopathy causes congenital inability to experience pain.
2006-01-01 Cox, Jj; Reimann, F; Nicholas, Ak; Thornton, G; Roberts, E; Springell, K; Karbani, G; Jafri, H; Mannan, J; Raashid, Y; Al Gazali, L; Hamamy, H; Valente, Enza Maria; Gorman, S; Williams, R; Mchale, Dp; Wood, Jn; Gribble, Fm; Woods, Cg
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| 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 | |
| An SCN9A channelopathy causes congenital inability to experience pain. | 1-gen-2006 | Cox, Jj; Reimann, F; Nicholas, Ak; Thornton, G; Roberts, E; Springell, K; Karbani, G; Jafri, H; Mannan, J; Raashid, Y; Al Gazali, L; Hamamy, H; Valente, Enza Maria; Gorman, S; Williams, R; Mchale, Dp; Wood, Jn; Gribble, Fm; Woods, Cg |
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Opzioni
Scopri
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