CRISCUOLO, CHIARA
CRISCUOLO, CHIARA
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.
2008 C., Piccoli; M., Ripoli; G., Quarato; R., Scrima; A., D'Aprile; D., Boffoli; M., Margaglione; Criscuolo, Chiara; DE MICHELE, Giuseppe; A., Sardanelli; S., Papa; N., Capitanio
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
2005 Criscuolo, Chiara; Sacca', Francesco; DE MICHELE, Giuseppe; Mancini, P; Combarros, O; Infante, J; Garcia, A; Banfi, S; Filla, Alessandro; Berciano, J.
Ataxia with oculomotor apraxia type 1 in southern italy: late onset and variable phenotype.
2004 Criscuolo, Chiara; Mancini, Pietro; Sacca', Francesco; DE MICHELE, Giuseppe; Monticelli, A; Santoro, Lucio; Scarano, Valentina; Banfi, S; Filla, Alessandro
Complex phenotype in an Italian family with a novel mutation in SPG3A.
2010 de Leva, M. F.; Filla, Alessandro; Criscuolo, Chiara; Tessa, A.; Pappatà, S.; Quarantelli, Mario; Bilo, Leonilda; Peluso, Silvio; Antenora, Antonella; Longo, D.; Santorelli, F. M.; DE MICHELE, Giuseppe
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
2011 Criscuolo, Chiara; DE ROSA, Anna; A, Guacci; A, ; Simons, Ej; Breedveld, Gj; Peluso, S; Volpe, G; Filla, Alessandro; A, Oostra; Ba, Bonifati V; DE MICHELE, Giuseppe
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy.
2009 DE ROSA, Anna; Criscuolo, Chiara; P., Mancini; M. D., Martino; I. A., Giordano; Pappata', Sabina; Filla, Alessandro; DE MICHELE, Giuseppe
Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial
2017 Schöls, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jägle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Höflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Züchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; De Jonghe, Peter; Björkhem, Ingemar; Schüle, Rebecca
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. | 1.1 Articolo in rivista | 2008 | C., Piccoli; M., Ripoli; G., Quarato; R., Scrima; A., D'Aprile; D., Boffoli; M., Margaglione; Criscuolo, Chiara; DE MICHELE, Giuseppe; A., Sardanelli; S., Papa; N., Capitanio | |
| Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia | 1.1 Articolo in rivista | 2005 | Criscuolo, Chiara; Sacca', Francesco; DE MICHELE, Giuseppe; Mancini, P; Combarros, O; Infante, J; Garcia, A; Banfi, S; Filla, Alessandro; Berciano, J. | |
| Ataxia with oculomotor apraxia type 1 in southern italy: late onset and variable phenotype. | 1.1 Articolo in rivista | 2004 | Criscuolo, Chiara; Mancini, Pietro; Sacca', Francesco; DE MICHELE, Giuseppe; Monticelli, A; Santoro, Lucio; Scarano, Valentina; Banfi, S; Filla, Alessandro | |
| Complex phenotype in an Italian family with a novel mutation in SPG3A. | 1.1 Articolo in rivista | 2010 | de Leva, M. F.; Filla, Alessandro; Criscuolo, Chiara; Tessa, A.; Pappatà, S.; Quarantelli, Mario; Bilo, Leonilda; Peluso, Silvio; Antenora, Antonella; Longo, D.; Santorelli, F. M.; DE MICHELE, Giuseppe | |
| The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. | 1.1 Articolo in rivista | 2011 | Criscuolo, Chiara; DE ROSA, Anna; A, Guacci; A, ; Simons, Ej; Breedveld, Gj; Peluso, S; Volpe, G; Filla, Alessandro; A, Oostra; Ba, Bonifati V; DE MICHELE, Giuseppe | |
| Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. | 1.1 Articolo in rivista | 2009 | DE ROSA, Anna; Criscuolo, Chiara; P., Mancini; M. D., Martino; I. A., Giordano; Pappata', Sabina; Filla, Alessandro; DE MICHELE, Giuseppe | |
| Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial | 1.1 Articolo in rivista | 2017 | Schöls, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jägle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Höflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Züchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; De Jonghe, Peter; Björkhem, Ingemar; Schüle, Rebecca |