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The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy.
2010-01-01 Michiorri, S; Gelmetti, V; Giarda, E; Lombardi, F; Romano, F; Marongiu, R; Nerini Molteni, S; Sale, P; Vago, R; Arena, G; Torosantucci, L; Cassina, L; Russo, Ma; Dallapiccola, B; Valente, Enza Maria; Casari, G.
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
2005-01-01 Albanese, A; Valente, Enza Maria; Romito, Lm; Bellacchio, E; Elia, Ae; Dallapiccola, B.
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
2014-01-01 Michael G., Heckman; Alexis, Elbaz; Alexandra I., Soto Ortolaza; Daniel J., Serie; Jan O., Aasly; Grazia, Annesi; Georg, Auburger; Justin A., Bacon; Magdalena Boczarska, Jedynak; Maria, Bozi; Laura, Brighina; Marie Christine Chartier, Harlin; Efthimios, Dardiotis; Alain, Destée; Carlo, Ferrarese; Alessandro, Ferraris; Brian, Fiske; Suzana, Gispert; Georgios M., Hadjigeorgiou; Nobutaka, Hattori; John P. A., Ioannidis; Barbara Jasinska, Myga; Beom S., Jeon; Yun Joong, Kim; Christine, Klein; Rejko, Kruger; Elli, Kyratzi; Chin Hsien, Lin; Katja, Lohmann; Marie Anne, Loriot; Timothy, Lynch; George D., Mellick; Eugénie, Mutez; Grzegorz, Opala; Sung Sup, Park; Simona, Petrucci; Aldo, Quattrone; Manu, Sharma; Peter A., Silburn; Young Ho, Sohn; Leonidas, Stefanis; Vera, Tadic; Hiroyuki, Tomiyama; Ryan J., Uitti; Valente, Enza Maria; Demetrios K., Vassilatis; Carles Vilariño, Güell; Linda R., White; Karin, Wirdefeldt; Zbigniew K., Wszolek; Ruey Meei, Wu; Georgia, Xiromerisiou; Demetrius M., Maraganore; Matthew J., Farrer; Owen A., Ross
The role of DYT1 in primary torsion dystonia in Europe.
1998-01-01 Valente, Enza Maria; Warner, Tt; Jarman, Pr; Mathen, D; Fletcher, Na; Marsden, Cd; Bhatia, Kp; Wood, Nw
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity.
2013-01-01 Kojovic, M; Pareés, I; Lampreia, T; Pienczk Reclawowicz, K; Xiromerisiou, G; Rubio Agusti, I; Kramberger, M; Carecchio, M; Alazami, Am; Brancati, F; Slawek, J; Pirtosek, Z; Valente, Enza Maria; Alkuraya, Fs; Edwards, Mj; Bhatia, Kp
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
2009-01-01 Defazio, G; Matarin, M; Peckham, El; Martino, D; Valente, Enza Maria; Singleton, A; Crawley, A; Aniello, Ms; Brancati, F; Abbruzzese, G; Girlanda, P; Livrea, P; Hallett, M; Berardelli, A.
The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
2012-01-01 Terracciano, A; Renaldo, F; Zanni, G; D'Amico, A; Pastore, A; Barresi, S; Valente, Enza Maria; Piemonte, F; Tozzi, G; Carrozzo, R; Valeriani, M; Boldrini, R; Mercuri, E; Santorelli, Fm; Bertini, E.
Transcriptional regulator PRDM12 is essential for human pain perception
2015-01-01 Chen, Ya Chun; Auer Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; Mcaleer, Maeve A; Cilio, Maria Roberta; Mchugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan; De Jonghe, Peter; Reilly, Mary M; Kropatsch, Regina; Kurth, Ingo; Chrast, Roman; Michiue, Tatsuo; Bennett, David L. H; Woods, C. Geoffrey; Senderek, Jan
Translation initiator EIF4G1 mutations in familial Parkinson disease.
2011-01-01 Chartier Harlin, Mc; Dachsel, Jc; Vilariño Güell, C; Lincoln, Sj; Leprêtre, F; Hulihan, Mm; Kachergus, J; Milnerwood, Aj; Tapia, L; Song, Ms; Le Rhun, E; Mutez, E; Larvor, L; Duflot, A; Vanbesien Mailliot, C; Kreisler, A; Ross, Oa; Nishioka, K; Soto Ortolaza, Ai; Cobb, Sa; Melrose, Hl; Behrouz, B; Keeling, Bh; Bacon, Ja; Hentati, E; Williams, L; Yanagiya, A; Sonenberg, N; Lockhart, Pj; Zubair, Ac; Uitti, Rj; Aasly, Jo; Krygowska Wajs, A; Opala, G; Wszolek, Zk; Frigerio, R; Maraganore, Dm; Gosal, D; Lynch, T; Hutchinson, M; Bentivoglio, Ar; Valente, Enza Maria; Nichols, Wc; Pankratz, N; Foroud, T; Gibson, Ra; Hentati, F; Dickson, Dw; Destée, A; Farrer, M. J.
Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle.
1997-01-01 Lomonaco, M; Padua, L; Gregori, B; Valente, Enza Maria; Tonali, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. | 1-gen-2010 | Michiorri, S; Gelmetti, V; Giarda, E; Lombardi, F; Romano, F; Marongiu, R; Nerini Molteni, S; Sale, P; Vago, R; Arena, G; Torosantucci, L; Cassina, L; Russo, Ma; Dallapiccola, B; Valente, Enza Maria; Casari, G. | |
| The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. | 1-gen-2005 | Albanese, A; Valente, Enza Maria; Romito, Lm; Bellacchio, E; Elia, Ae; Dallapiccola, B. | |
| The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants | 1-gen-2014 | Michael G., Heckman; Alexis, Elbaz; Alexandra I., Soto Ortolaza; Daniel J., Serie; Jan O., Aasly; Grazia, Annesi; Georg, Auburger; Justin A., Bacon; Magdalena Boczarska, Jedynak; Maria, Bozi; Laura, Brighina; Marie Christine Chartier, Harlin; Efthimios, Dardiotis; Alain, Destée; Carlo, Ferrarese; Alessandro, Ferraris; Brian, Fiske; Suzana, Gispert; Georgios M., Hadjigeorgiou; Nobutaka, Hattori; John P. A., Ioannidis; Barbara Jasinska, Myga; Beom S., Jeon; Yun Joong, Kim; Christine, Klein; Rejko, Kruger; Elli, Kyratzi; Chin Hsien, Lin; Katja, Lohmann; Marie Anne, Loriot; Timothy, Lynch; George D., Mellick; Eugénie, Mutez; Grzegorz, Opala; Sung Sup, Park; Simona, Petrucci; Aldo, Quattrone; Manu, Sharma; Peter A., Silburn; Young Ho, Sohn; Leonidas, Stefanis; Vera, Tadic; Hiroyuki, Tomiyama; Ryan J., Uitti; Valente, Enza Maria; Demetrios K., Vassilatis; Carles Vilariño, Güell; Linda R., White; Karin, Wirdefeldt; Zbigniew K., Wszolek; Ruey Meei, Wu; Georgia, Xiromerisiou; Demetrius M., Maraganore; Matthew J., Farrer; Owen A., Ross | |
| The role of DYT1 in primary torsion dystonia in Europe. | 1-gen-1998 | Valente, Enza Maria; Warner, Tt; Jarman, Pr; Mathen, D; Fletcher, Na; Marsden, Cd; Bhatia, Kp; Wood, Nw | |
| The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. | 1-gen-2013 | Kojovic, M; Pareés, I; Lampreia, T; Pienczk Reclawowicz, K; Xiromerisiou, G; Rubio Agusti, I; Kramberger, M; Carecchio, M; Alazami, Am; Brancati, F; Slawek, J; Pirtosek, Z; Valente, Enza Maria; Alkuraya, Fs; Edwards, Mj; Bhatia, Kp | |
| The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. | 1-gen-2009 | Defazio, G; Matarin, M; Peckham, El; Martino, D; Valente, Enza Maria; Singleton, A; Crawley, A; Aniello, Ms; Brancati, F; Abbruzzese, G; Girlanda, P; Livrea, P; Hallett, M; Berardelli, A. | |
| The use of muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. | 1-gen-2012 | Terracciano, A; Renaldo, F; Zanni, G; D'Amico, A; Pastore, A; Barresi, S; Valente, Enza Maria; Piemonte, F; Tozzi, G; Carrozzo, R; Valeriani, M; Boldrini, R; Mercuri, E; Santorelli, Fm; Bertini, E. | |
| Transcriptional regulator PRDM12 is essential for human pain perception | 1-gen-2015 | Chen, Ya Chun; Auer Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; Mcaleer, Maeve A; Cilio, Maria Roberta; Mchugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan; De Jonghe, Peter; Reilly, Mary M; Kropatsch, Regina; Kurth, Ingo; Chrast, Roman; Michiue, Tatsuo; Bennett, David L. H; Woods, C. Geoffrey; Senderek, Jan | |
| Translation initiator EIF4G1 mutations in familial Parkinson disease. | 1-gen-2011 | Chartier Harlin, Mc; Dachsel, Jc; Vilariño Güell, C; Lincoln, Sj; Leprêtre, F; Hulihan, Mm; Kachergus, J; Milnerwood, Aj; Tapia, L; Song, Ms; Le Rhun, E; Mutez, E; Larvor, L; Duflot, A; Vanbesien Mailliot, C; Kreisler, A; Ross, Oa; Nishioka, K; Soto Ortolaza, Ai; Cobb, Sa; Melrose, Hl; Behrouz, B; Keeling, Bh; Bacon, Ja; Hentati, E; Williams, L; Yanagiya, A; Sonenberg, N; Lockhart, Pj; Zubair, Ac; Uitti, Rj; Aasly, Jo; Krygowska Wajs, A; Opala, G; Wszolek, Zk; Frigerio, R; Maraganore, Dm; Gosal, D; Lynch, T; Hutchinson, M; Bentivoglio, Ar; Valente, Enza Maria; Nichols, Wc; Pankratz, N; Foroud, T; Gibson, Ra; Hentati, F; Dickson, Dw; Destée, A; Farrer, M. J. | |
| Ulnar innervation of the thenar eminence with preservation of median innervation of first lumbrical muscle. | 1-gen-1997 | Lomonaco, M; Padua, L; Gregori, B; Valente, Enza Maria; Tonali, P. |
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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