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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders.
2007-01-01 Brancati, F; Barrano, G; Silhavy, Jl; Marsh, Se; Travaglini, L; Bielas, Sl; Amorini, M; Zablocka, D; Kayserili, H; Al Gazali, L; Bertini, E; Boltshauser, E; D’Hooghe, M; Fazzi, E; Fenerci, Ey; Hennekam, Rcm; Kiss, A; Lees, Mm; Marco, E; Phadke, Sr; Rigoli, L; Romano, S; Salpietro, Sd; Sherr, Eh; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, Dh; Yuksel, A; Dallapiccola, B; The International JSRD Study, Group; Valente, Enza Maria; Gleeson, Jg
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
2012-01-01 Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Enza Maria; Gleeson, J. G.
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
2004-01-01 Casali, C; Valente, Enza Maria; Bertini, E; Montagna, G; Criscuolo, C; De Michele, G; Villanova, M; Damiano, M; Pierallini, A; Brancati, F; Scarano, V; Tessa, A; Cricchi, F; Grieco, Gs; Muglia, M; Carella, M; Martini, B; Rossi, A; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm
Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients.
2007-01-01 Simonelli, F; Ziviello, C; Testa, F; Rossi, S; Fazzi, E; Bianchi, Pe; Fossarello, M; Signorini, S; Bertone, C; Galantuomo, S; Brancati, F; Valente, Enza Maria; Ciccodicola, A; Rinaldi, E; Auricchio, A; Banfi, S.
Clinical and molecular phenotype of Aicardi-Goutières syndrome.
2007-01-01 Rice, G; Patrick, T; Parmar, R; Taylor, Cf; Aeby, A; Aicardi, J; Artuch, R; Attard Montalto, S; Bacino, Ca; Barroso, B; Baxter, P; Benko, Ws; Bergmann, C; Bertini, E; Biancheri, R; Blair, Em; Blau, N; Bonthron, Dt; Briggs, T; Brueton, La; Brunner, Hg; Burke, Cj; Carr, Im; Carvalho, Dr; Chandler, Ke; Christen, Hj; Corry, Pc; Cowan, Fm; Cox, H; D’Arrigo, S; Dean, J; De Laet, C; De Praeter, C; Déry, C; Ferrie, Cd; Flintoff, K; Frints, Sgm; Garcia Cazorla, A; Gener, B; Goizet, C; Goutières, F; Green, Aj; Guët, A; Hamel, Bcj; Hayward, Be; Heiberg, A; Hennekam, Rc; Husson, M; Jackson, Ap; Jayatunga, R; Jiang, Yh; Kant, Sg; Kao, A; King, Md; Kingston, Hm; Klepper, J; van der Knaap, Ms; Kornberg, Aj; Kotzot, D; Kratzer, W; Lacombe, D; Lagae, L; Landrieu, Pg; Lanzi, G; Leitch, A; Lim, Mj; Livingston, Jh; Lourenco, Cm; Lyall, Egh; Lynch, Sa; Lyons, Mj; Marom, D; Mcclure, Jp; Mcwilliam, R; Melancon, Sb; Mewasingh, Ld; Moutard, Ml; Nischal, Kk; Østergaard, Jr; Prendiville, J; Rasmussen, M; Rogers, Rc; Roland, D; Rosser, Em; Rostasy, K; Roubertie, A; Sanchis, A; Schiffmann, R; Scholl Bürgi, S; Seal, S; Shalev, Sa; Sierra Corcoles, C; Sinha, Gp; Soler, D; Spiegel, R; Stephenson, Jbp; Tacke, U; Tan, T; Till, M; Tolmie, Jl; Tomlin, P; Vagnarelli, F; Valente, Enza Maria; Van Coster, Rna; Van der Aa, N; Vanderver, A; Vles, Jsh; Voit, T; Wassmer, E; Weschke, B; Whiteford, Ml; Willemsen, Maa; Zankl, A; Zuberi, Sm; Orcesi, S; Fazzi, E; Lebon, P; Crow, Yj
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study.
2002-01-01 Khan, Nl; Valente, Enza Maria; Bentivoglio, Ar; Wood, Nw; Albanese, A; Brooks, Dj; Piccini, P.
Clinical utility gene card for: Joubert syndrome--update 2013.
2013-01-01 Valente, Enza Maria; F., Brancati; E., Boltshauser; B., Dallapiccola
Clinical utility gene card for: Joubert syndrome.
2011-01-01 Valente, Enza Maria; Brancati, F; Boltshauser, E; Dallapiccola, B.
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies
2013-01-01 Onofrj, M; Varanese, S; Bonanni, L; Taylor, Jp; Antonini, A; Valente, Enza Maria; Petrucci, S; Stocchi, F; Thomas, A; Perfetti, B.
Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy.
2007-01-01 Galli, M; Cimolin, V; Valente, Enza Maria; Crivellini, M; Ialongo, T; Albertini, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. | 1-gen-2007 | Brancati, F; Barrano, G; Silhavy, Jl; Marsh, Se; Travaglini, L; Bielas, Sl; Amorini, M; Zablocka, D; Kayserili, H; Al Gazali, L; Bertini, E; Boltshauser, E; D’Hooghe, M; Fazzi, E; Fenerci, Ey; Hennekam, Rcm; Kiss, A; Lees, Mm; Marco, E; Phadke, Sr; Rigoli, L; Romano, S; Salpietro, Sd; Sherr, Eh; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, Dh; Yuksel, A; Dallapiccola, B; The International JSRD Study, Group; Valente, Enza Maria; Gleeson, Jg | |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 1-gen-2012 | Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Enza Maria; Gleeson, J. G. | |
| Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. | 1-gen-2004 | Casali, C; Valente, Enza Maria; Bertini, E; Montagna, G; Criscuolo, C; De Michele, G; Villanova, M; Damiano, M; Pierallini, A; Brancati, F; Scarano, V; Tessa, A; Cricchi, F; Grieco, Gs; Muglia, M; Carella, M; Martini, B; Rossi, A; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm | |
| Clinical and molecular genetics of Leber's congenital amaurosis (LCA): a multi-center study of Italian patients. | 1-gen-2007 | Simonelli, F; Ziviello, C; Testa, F; Rossi, S; Fazzi, E; Bianchi, Pe; Fossarello, M; Signorini, S; Bertone, C; Galantuomo, S; Brancati, F; Valente, Enza Maria; Ciccodicola, A; Rinaldi, E; Auricchio, A; Banfi, S. | |
| Clinical and molecular phenotype of Aicardi-Goutières syndrome. | 1-gen-2007 | Rice, G; Patrick, T; Parmar, R; Taylor, Cf; Aeby, A; Aicardi, J; Artuch, R; Attard Montalto, S; Bacino, Ca; Barroso, B; Baxter, P; Benko, Ws; Bergmann, C; Bertini, E; Biancheri, R; Blair, Em; Blau, N; Bonthron, Dt; Briggs, T; Brueton, La; Brunner, Hg; Burke, Cj; Carr, Im; Carvalho, Dr; Chandler, Ke; Christen, Hj; Corry, Pc; Cowan, Fm; Cox, H; D’Arrigo, S; Dean, J; De Laet, C; De Praeter, C; Déry, C; Ferrie, Cd; Flintoff, K; Frints, Sgm; Garcia Cazorla, A; Gener, B; Goizet, C; Goutières, F; Green, Aj; Guët, A; Hamel, Bcj; Hayward, Be; Heiberg, A; Hennekam, Rc; Husson, M; Jackson, Ap; Jayatunga, R; Jiang, Yh; Kant, Sg; Kao, A; King, Md; Kingston, Hm; Klepper, J; van der Knaap, Ms; Kornberg, Aj; Kotzot, D; Kratzer, W; Lacombe, D; Lagae, L; Landrieu, Pg; Lanzi, G; Leitch, A; Lim, Mj; Livingston, Jh; Lourenco, Cm; Lyall, Egh; Lynch, Sa; Lyons, Mj; Marom, D; Mcclure, Jp; Mcwilliam, R; Melancon, Sb; Mewasingh, Ld; Moutard, Ml; Nischal, Kk; Østergaard, Jr; Prendiville, J; Rasmussen, M; Rogers, Rc; Roland, D; Rosser, Em; Rostasy, K; Roubertie, A; Sanchis, A; Schiffmann, R; Scholl Bürgi, S; Seal, S; Shalev, Sa; Sierra Corcoles, C; Sinha, Gp; Soler, D; Spiegel, R; Stephenson, Jbp; Tacke, U; Tan, T; Till, M; Tolmie, Jl; Tomlin, P; Vagnarelli, F; Valente, Enza Maria; Van Coster, Rna; Van der Aa, N; Vanderver, A; Vles, Jsh; Voit, T; Wassmer, E; Weschke, B; Whiteford, Ml; Willemsen, Maa; Zankl, A; Zuberi, Sm; Orcesi, S; Fazzi, E; Lebon, P; Crow, Yj | |
| Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study. | 1-gen-2002 | Khan, Nl; Valente, Enza Maria; Bentivoglio, Ar; Wood, Nw; Albanese, A; Brooks, Dj; Piccini, P. | |
| Clinical utility gene card for: Joubert syndrome--update 2013. | 1-gen-2013 | Valente, Enza Maria; F., Brancati; E., Boltshauser; B., Dallapiccola | |
| Clinical utility gene card for: Joubert syndrome. | 1-gen-2011 | Valente, Enza Maria; Brancati, F; Boltshauser, E; Dallapiccola, B. | |
| Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies | 1-gen-2013 | Onofrj, M; Varanese, S; Bonanni, L; Taylor, Jp; Antonini, A; Valente, Enza Maria; Petrucci, S; Stocchi, F; Thomas, A; Perfetti, B. | |
| Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy. | 1-gen-2007 | Galli, M; Cimolin, V; Valente, Enza Maria; Crivellini, M; Ialongo, T; Albertini, G. |
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- 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
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- eng 106
- und 44
- ita 2
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