11573/1717737 - 2024 -
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hüffmeier, Ulrike; Mignot, Cyril; Auvin, Stéphane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, André; Cohen, Julie S; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta - 01a Articolo in rivista
rivista: HGG ADVANCES (New York: Cell Press Elsevier Inc.) pp. 1-17 - issn: 2666-2477 - wos: WOS:001325375900001 (0) - scopus: (0)
11573/1720254 - 2024 -
Unconventional p65/p52 NF-κB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs) De Paolis, Veronica; Troisi, Virginia; Bordin, Antonella; Pagano, Francesca; Caputo, Viviana; Parisi, Chiara - 01a Articolo in rivista
rivista: LIFE SCIENCES (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. - - issn: 0024-3205 - wos: WOS:001318915600001 (0) - scopus: 2-s2.0-85204170570 (0)
11573/1720256 - 2024 -
Biallelic variants of MRPS36 cause a new form of Leigh syndrome Galosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; Van Den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo - 01i Case report
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1225-1231 - issn: 0885-3185 - wos: WOS:001209566600001 (0) - scopus: 2-s2.0-85192080247 (0)
11573/1707158 - 2024 -
Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction Giovannetti, Agnese; Guarnieri, Rosanna; Petrizzelli, Francesco; Lazzari, Sara; Padalino, Gabriella; Traversa, Alice; Napoli, Alessandro; Di Giorgio, Roberto; Pizzuti, Antonio; Parisi, Chiara; Mazza, Tommaso; Barbato, Ersilia; Caputo, Viviana - 01a Articolo in rivista
rivista: JOURNAL OF DENTAL SCIENCES (Taipei : Council on Publication of the Association for Dental Sciences of the Republic of China) pp. 2150-2156 - issn: 1991-7902 - wos: WOS:001315513700001 (0) - scopus: 2-s2.0-85188426688 (0)
11573/1707571 - 2024 -
Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants Giovannetti, Agnese; Lazzari, Sara; Mangoni, Manuel; Traversa, Alice; Mazza, Tommaso; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. - - issn: 0378-1119 - wos: WOS:001222857600001 (0) - scopus: (0)
11573/1720255 - 2024 -
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (Chicago, Ill. : University of Chicago Press for the American Society of Human Genetics) pp. - - issn: 1537-6605 - wos: WOS:001312382400001 (1) - scopus: 2-s2.0-85202197296 (1)
11573/1687385 - 2023 -
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants Bianco, S. D.; Parca, L.; Petrizzelli, F.; Biagini, T.; Giovannetti, A.; Liorni, N.; Napoli, A.; Carella, M.; Procaccio, V.; Lott, M. T.; Zhang, S.; Vescovi, A. L.; Wallace, D. C.; Caputo, V.; Mazza, T. - 01a Articolo in rivista
rivista: NATURE COMMUNICATIONS (London: Nature Publishing Group-Springer Nature) pp. 1-13 - issn: 2041-1723 - wos: WOS:001051577000011 (9) - scopus: 2-s2.0-85168340325 (10)
11573/1687384 - 2023 -
Investigating Mitochondrial Gene Expression Patterns in Drosophila melanogaster Using Network Analysis to Understand Aging Mechanisms Mangoni, M.; Petrizzelli, F.; Liorni, N.; Bianco, S. D.; Biagini, T.; Napoli, A.; Adinolfi, M.; Guzzi, P. H.; Novelli, A.; Caputo, V.; Mazza, T. - 01a Articolo in rivista
rivista: APPLIED SCIENCES (Basel: MDPI AG, 2011-) pp. 1-15 - issn: 2076-3417 - wos: WOS:001014093800001 (2) - scopus: 2-s2.0-85163986100 (1)
11573/1671216 - 2023 -
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Ottomana, Angela Maria; Hauser, Jonas; Macrì, Simone - 01a Articolo in rivista
rivista: FRONTIERS IN CELLULAR NEUROSCIENCE (Lausanne (PO Box 110, 1015) : Frontiers Research Foundation, 2007-) pp. - - issn: 1662-5102 - wos: WOS:000931132100001 (2) - scopus: 2-s2.0-85147921445 (2)
11573/1684176 - 2023 -
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 104651- - issn: 1769-7212 - wos: WOS:000899351000013 (0) - scopus: 2-s2.0-85141768764 (0)
11573/1685519 - 2023 -
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients Rigolin, Gian Matteo; Traversa, Alice; Caputo, Viviana; Del Giudice, Ilaria; Bardi, Antonella; Saccenti, Elena; Raponi, Sara; Ilari, Caterina; Cafforio, Luciana; Giovannetti, Agnese; Pizzuti, Antonio; Guarini, Anna; Foà, Robin; Cuneo, Antonio - 01a Articolo in rivista
rivista: BRITISH JOURNAL OF HAEMATOLOGY (Oxford]: [Blackwell Science].) pp. - - issn: 1365-2141 - wos: WOS:001019742800001 (2) - scopus: 2-s2.0-85163011556 (2)
11573/1686955 - 2023 -
Protection against ischemic heart disease. a joint role for eNOS and the KATP channel Severino, Paolo; D'amato, Andrea; Mancone, Massimo; Palazzuoli, Alberto; Mariani, Marco Valerio; Prosperi, Silvia; Myftari, Vincenzo; Lavalle, Carlo; Forleo, Giovanni Battista; Birtolo, Lucia Ilaria; Caputo, Viviana; Miraldi, Fabio; Chimenti, Cristina; Badagliacca, Roberto; Maestrini, Viviana; Palmirotta, Raffaele; Vizza, Carmine Dario; Fedele, Francesco - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000987315200001 (3) - scopus: 2-s2.0-85159328843 (3)
11573/1651207 - 2022 -
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma Biagini, Tommaso; Petrizzelli, Francesco; Bianco, Salvatore Daniele; Liorni, Niccolo'; Napoli, Alessandro; Castellana, Stefano; Luigi Vescovi, Angelo; Carella, Massimo; Caputo, Viviana; Mazza, Tommaso - 01a Articolo in rivista
rivista: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (Göteborg : Chalmers University of Technology, 2011-) pp. 3151-3160 - issn: 2001-0370 - wos: WOS:000822635400005 (5) - scopus: 2-s2.0-85132758976 (5)
11573/1640953 - 2022 -
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants Giovannetti, Agnese; Bianco, Salvatore Daniele; Traversa, Alice; Panzironi, Noemi; Bruselles, Alessandro; Lazzari, Sara; Liorni, Niccolò; Tartaglia, Marco; Carella, Massimo; Pizzuti, Antonio; Mazza, Tommaso; Caputo, Viviana - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. - - issn: 1059-7794 - wos: WOS:000802100300001 (0) - scopus: 2-s2.0-85131158121 (0)
11573/1648078 - 2022 -
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis Napoli, Giulia; Panzironi, Noemi; Traversa, Alice; Catalanotto, Caterina; Pace, Valentina; Petrizzelli, Francesco; Giovannetti, Agnese; Lazzari, Sara; Cogoni, Carlo; Tartaglia, Marco; Carella, Massimo; Mazza, Tommaso; Pizzuti, Antonio; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR NEUROBIOLOGY (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. - - issn: 0893-7648 - wos: WOS:000803858300001 (3) - scopus: 2-s2.0-85131184441 (3)
11573/1664965 - 2022 -
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study Putotto, Carolina; Pulvirenti, Federica; Pugnaloni, Flaminia; Isufi, Ina; Unolt, Marta; Anaclerio, Silvia; Caputo, Viviana; Bernardini, Laura; Messina, Elisa; Moretti, Corrado; Tarani, Luigi; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2334- - issn: 2073-4425 - wos: WOS:000902748800001 (1) - scopus: 2-s2.0-85144573205 (1)
11573/1488419 - 2021 -
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits Castellana, S.; Biagini, T.; Petrizzelli, F.; Parca, L.; Panzironi, N.; Caputo, V.; Vescovi, A. L.; Carella, M.; Mazza, T. - 01a Articolo in rivista
rivista: NUCLEIC ACIDS RESEARCH (Oxford : Oxford University Press) pp. D1282-D1288 - issn: 1362-4962 - wos: WOS:000608437800157 (25) - scopus: 2-s2.0-85099429166 (27)
11573/1493515 - 2021 -
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. - 01a Articolo in rivista
rivista: BONE (New York: Pergamon Press, c1985-) pp. - - issn: 8756-3282 - wos: WOS:000615746400001 (8) - scopus: 2-s2.0-85099259643 (9)
11573/1510900 - 2021 -
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode Hauser, Jonas; Pisa, Edoardo; Arias Vásquez, Alejandro; Tomasi, Flavio; Traversa, Alice; Chiodi, Valentina; Martin, Francois-Pierre; Sprenger, Norbert; Lukjancenko, Oksana; Zollinger, Alix; Metairon, Sylviane; Schneider, Nora; Steiner, Pascal; Martire, Alberto; Caputo, Viviana; Macrì, Simone - 01a Articolo in rivista
rivista: MOLECULAR PSYCHIATRY (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. - - issn: 1359-4184 - wos: WOS:000625343900001 (53) - scopus: 2-s2.0-85106348707 (65)
11573/1622186 - 2021 -
Exposure to 3′sialyllactose‐poor milk during lactation impairs cognitive capabilities in adulthood Pisa, E.; Martire, A.; Chiodi, V.; Traversa, A.; Caputo, V.; Hauser, J.; Macri, S. - 01a Articolo in rivista
rivista: NUTRIENTS (Basel, Switzerland: Molecular Diversity Preservation International (MDPI)) pp. - - issn: 2072-6643 - wos: WOS:000737083300001 (18) - scopus: 2-s2.0-85119596077 (18)
11573/1421953 - 2021 -
Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors Severino, P.; D'amato, A.; Netti, L.; Pucci, M.; Mariani, M. V.; Cimino, S.; Birtolo, L. I.; Infusino, F.; De Orchi, P.; Palmirotta, R.; Lovero, D.; Silvestris, F.; Caputo, V.; Pizzuti, A.; Miraldi, F.; Maestrini, V.; Mancone, M.; Fedele, F. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (London : SAGE PUBLICATIONS LTD,) pp. 1-7 - issn: 2047-4873 - wos: WOS:000537489200001 (21) - scopus: 2-s2.0-85085877052 (24)
11573/1571574 - 2021 -
Potential role of eNOS genetic variants in ischemic heart disease susceptibility and clinical presentation Severino, Paolo; D'amato, Andrea; Prosperi, Silvia; Magnocavallo, Michele; Mariani, Marco Valerio; Netti, Lucrezia; Birtolo, Lucia Ilaria; De Orchi, Paolo; Chimenti, Cristina; Maestrini, Viviana; Miraldi, Fabio; Lavalle, Carlo; Caputo, Viviana; Palmirotta, Raffaele; Mancone, Massimo; Fedele, Francesco - 01a Articolo in rivista
rivista: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (Basel : MDPI AG, 2014-) pp. - - issn: 2308-3425 - wos: WOS:000700677100001 (18) - scopus: 2-s2.0-85115747225 (17)
11573/1413018 - 2020 -
Genomic and physiological resilience in extreme environments are associated with a secure attachment style Caputo, Viviana; Pacilli, Maria Giuseppina; Arisi, Ivan; Mazza, Tommaso; Brandi, Rossella; Traversa, Alice; Casasanta, Giampietro; Pisa, Edoardo; Sonnessa, Michele; Healey, Beth; Moggio, Lorenzo; D’Onofrio, Mara; Alleva, Enrico; Macrì, Simone - 01a Articolo in rivista
rivista: TRANSLATIONAL PSYCHIATRY (New York, NY : Nature Pub. Group-Springer Nature) pp. 11- - issn: 2158-3188 - wos: WOS:000542690400004 (7) - scopus: 2-s2.0-85086175054 (9)
11573/1396063 - 2020 -
Prenatal expression of d‑aspartate oxidase causes early cerebral d‑aspartate depletion and influences brain morphology and cognitive functions at adulthood De Rosa, Arianna; Mastrostefano, Francesca; Di Maio, Anna; Nuzzo, Tommaso; Saitoh, Yasuaki; Katane, Masumi; Isidori, Andrea M.; Caputo, Viviana; Marotta, Pina; Falco, Geppino; De Stefano, Maria Egle; Homma, Hiroshi; Usiello, Alessandro; Errico, Francesco - 01a Articolo in rivista
rivista: AMINO ACIDS (Wien: Springer.) pp. - - issn: 1438-2199 - wos: WOS:000520693600001 (16) - scopus: 2-s2.0-85081909051 (16)
11573/1423392 - 2020 -
New insights on the influence of free d-aspartate metabolism in the mammalian brain during prenatal and postnatal life Errico, F.; Cuomo, M.; Canu, N.; Caputo, V.; Usiello, A. - 01g Articolo di rassegna (Review)
rivista: BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (Tokyo ; Oxford ; New York ; London ; Amsterdam ; Shannon ; Paris : Elsevier) pp. - - issn: 1570-9639 - wos: WOS:000552060100005 (18) - scopus: 2-s2.0-85087940820 (16)
11573/1370708 - 2020 -
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 75-79 - issn: 1873-5126 - wos: WOS:000527333100013 (12) - scopus: 2-s2.0-85080039205 (16)
11573/1465158 - 2020 -
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome Petrizzelli, F.; Biagini, T.; Barbieri, A.; Parca, L.; Panzironi, N.; Castellana, S.; Caputo, V.; Vescovi, A. L.; Carella, M.; Mazza, T. - 01a Articolo in rivista
rivista: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (Göteborg : Chalmers University of Technology, 2011-) pp. 2033-2042 - issn: 2001-0370 - wos: WOS:000607348200003 (9) - scopus: 2-s2.0-85089078634 (10)
11573/1410285 - 2020 -
Absence of 6’Sialyllactose during lactation impairs cognitive capabilities and modulates gene expression Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Martire, Alberto; Chiodi, Valentina; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: Federation of European Neuroscience Societies 2020 virtual forum (Virtual Forum)
libro: FENS 2020 virtual forum abstract book - ()
11573/1413909 - 2020 -
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. e1336- - issn: 2324-9269 - wos: WOS:000539082200001 (3) - scopus: 2-s2.0-85086178317 (3)
11573/1349168 - 2019 -
Reduced availability of a selective human milk oligosaccharide during lactation impairs post-weaning executive functions Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: SINS national meeting of PhD students in neuroscience 2019 (“Federico II” University of Naples, Italy)
libro: SINS abstract book - ()
11573/1349181 - 2019 -
Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Macrì, Simone; Hauser, Jonas - 04d Abstract in atti di convegno
congresso: 48th meeting of the european brain and behaviour society (Prague; Czech Republic)
libro: 48th meeting of EBBS abstract book - ()
11573/1349570 - 2019 -
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000497878100001 (5) - scopus: 2-s2.0-85075459805 (5)
11573/1108825 - 2018 -
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: ARCHIVES OF ORAL BIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 96-102 - issn: 0003-9969 - wos: WOS:000432768400012 (9) - scopus: 2-s2.0-85046169366 (8)
11573/1179916 - 2018 -
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome Bauer, Christiane K.; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T.; Claps Sepulveda, Daniela J.; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 621-630 - issn: 0002-9297 - wos: WOS:000446312200014 (74) - scopus: 2-s2.0-85053867478 (75)
11573/1179906 - 2018 -
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Vahidi Mehrjardi, Mohammad Yahya; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Malamiri, Reza Azizi; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Shariati, Gholam Reza; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco - 01a Articolo in rivista
rivista: NEUROLOGY (Wolters Kluwer
Hagerstown MD: Lippincott Williams & Wilkins
Cleveland Ohio: Advanstar Communications) pp. e319-e330 - issn: 0028-3878 - wos: WOS:000440909200003 (37) - scopus: 2-s2.0-85059641426 (38)
11573/963877 - 2017 -
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 475-484 - issn: 1090-3798 - wos: WOS:000401209200009 (10) - scopus: 2-s2.0-85008239864 (10)
11573/931868 - 2016 -
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola - 01a Articolo in rivista
rivista: DATA IN BRIEF (New York : Elsevier Inc.) pp. 607-613 - issn: 2352-3409 - wos: WOS:000453166200095 (0) - scopus: 2-s2.0-84962574347 (0)
11573/927402 - 2016 -
Recessive inactivating mutations in TBCK, a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy Caputo, Viviana; Chong, Jx; Phelps, Ig; Stella, L; Worgan, L; Dempsey, Jc; Nguyen, A; Paolacci, Stefano; Leuzzi, V; Webster, R; Pizzuti, Antonio; Marvin, Ct; Ishak, Ge; Ardern Holmes, S; Richmond, Z; University Of Washington Center For Mendelian, Genomics; Bamshad, Mj; Ortiz Gonzalez, Xr; Tartaglia, M; Chopra, M; Doherty, D. - 04f Poster
11573/954875 - 2016 -
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 772-781 - issn: 0002-9297 - wos: WOS:000374203800015 (34) - scopus: 2-s2.0-84962045269 (35)
11573/963882 - 2016 -
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1772-1779 - issn: 1552-4825 - wos: WOS:000379948000008 (22) - scopus: 2-s2.0-84975106848 (21)
11573/963883 - 2016 -
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Sferra, Antonella; Baillat, Gilbert; Rizza, Teresa; Barresi, Sabina; Flex, Elisabetta; Tasca, Giorgio; D'amico, Adele; Bellacchio, Emanuele; Ciolfi, Andrea; Caputo, Viviana; Cecchetti, Serena; Torella, Annalaura; Zanni, Ginevra; Diodato, Daria; Piermarini, Emanuela; Niceta, Marcello; Coppola, Antonietta; Tedeschi, Enrico; Martinelli, Diego; Dionisi Vici, Carlo; Nigro, Vincenzo; Dallapiccola, Bruno; Compagnucci, Claudia; Tartaglia, Marco; Haase, Georg; Bertini, Enrico - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 974-983 - issn: 0002-9297 - wos: WOS:000385333700018 (43) - scopus: 2-s2.0-84991691574 (46)
11573/845848 - 2015 -
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. 227-235 - issn: 0378-1119 - wos: WOS:000369191500017 (27) - scopus: 2-s2.0-84952864713 (31)
11573/958197 - 2015 -
The emerging role of MicroRNA in schizophrenia Caputo, Viviana; Ciolfi, Andrea; Macri, Simone; Pizzuti, Antonio - 01a Articolo in rivista
rivista: CNS & NEUROLOGICAL DISORDERS. DRUG TARGETS (Sharjah : Bentham Science Publishers) pp. 208-221 - issn: 1996-3181 - wos: WOS:000352219800008 (27) - scopus: 2-s2.0-84930853953 (31)
11573/783132 - 2015 -
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies E. Stellacci, M. Niceta; Gripp, K. W.; Zampino, G.; Kousi, M.; Manselmi, M. Anselmi; Traversa, A.; Ciolfi, A.; Stabley, D.; Bruselles, A.; Caputo, V.; Scecchetti, S. Cecchetti; Prudente, S.; Fiorenza, M. T.; Boitani, C.; Philip, N.; Dniyazov, D. Niyazov; Leoni, C.; Nakane, T.; Keppler-Noreuil, K.; Braddock, S. R.; Gillessen-Kaesbach, G.; Palleschi, A.; Campeau, P. M.; Lee, B. H. L.; Pouponnot, C.; Stella, L.; Gbocchinfuso, G. Bocchinfuso; Nkatsanis, N. Katsanis; Ksol-Church, K. Sol-Church - 01i Case report
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 816-825 - issn: 0002-9297 - wos: WOS:000354189300012 (92) - scopus: 2-s2.0-84929289243 (95)
11573/813088 - 2015 -
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs Giacopo, Raffaella Di; Cianetti, Luciano; Caputo, Viviana; Torraca, Ilaria La; Piemonte, Fiorella; Ciolfi, Andrea; Petrucci, Simona; Carta, Claudio; Mariotti, Paolo; Leuzzi, Vincenzo; Valente, Enza Maria; J, ; D'amico, Adele; Bentivoglio, Annarita; Bertini, Enrico; Tartaglia, Marco; Zampino, Giuseppe - 01a Articolo in rivista
rivista: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 65-71 - issn: 0022-510X - wos: WOS:000360950800012 (25) - scopus: 2-s2.0-84939261656 (25)
11573/927392 - 2015 -
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome Kortüm, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, Maria Lisa; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, Thi Thu Van; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano - 01a Articolo in rivista
rivista: NATURE GENETICS () pp. 661-667 - issn: 1546-1718 - wos: WOS:000355386500019 (165) - scopus: 2-s2.0-84930092141 (169)
11573/927398 - 2015 -
Novel POLR3A mutations causing hypomyelinating leukodystrophy Paolacci, Stefano; Caputo, Viviana; V, .; Bruselles, ; A, .; Ciolfi, Andrea; A, .; Giovannetti, Agnese; A, .; Bertini, ; E, .; Pizzuti, Antonio; A, .; Leuzzi, Vincenzo; V, .; Tartaglia, - 04f Poster
11573/556156 - 2014 -
Novel SMAD4 mutation causing Myhre syndrome Caputo, Viviana; Gianfranco, Bocchinfuso; Marco, Castori; Traversa, Alice; Pizzuti, Antonio; Lorenzo, Stella; Grammatico, Paola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1835-1840 - issn: 1552-4833 - wos: WOS:000337633300035 (30) - scopus: 2-s2.0-84902540055 (29)
11573/557918 - 2014 -
Mutations in PAX2 Associate with Adult-Onset FSGS. M., Barua; E., Stellacci; L., Stella; A., Weins; G., Genovese; V., Muto; Caputo, Viviana; H. R., Toka; V. T., Charoonratana; M., Tartaglia; M. R., Pollak - 01a Articolo in rivista
rivista: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1942-1953 - issn: 1046-6673 - wos: WOS:000341059200011 (85) - scopus: 2-s2.0-84921665535 (101)
11573/516432 - 2013 -
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome E., Flex; Ciolfi, Andrea; Caputo, Viviana; V., Fodale; C., Leoni; D., Melis; M. F., Bedeschi; L., Mazzanti; Pizzuti, Antonio; M., Tartaglia; G., Zampino - 01a Articolo in rivista
rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 493-499 - issn: 0022-2593 - wos: WOS:000322123200001 (38) - scopus: 2-s2.0-84883199248 (42)
11573/433091 - 2012 -
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies myhre syndrome Caputo, Viviana; Luciano, Cianetti; Marcello, Niceta; Claudio, Carta; Ciolfi, Andrea; Gianfranco, Bocchinfuso; Eugenio, Carrani; Maria Lisa, Dentici; Elisa, Biamino; Elga, Belligni; Livia, Garavelli; Loredana, Boccone; Daniela, Melis; Generoso, Andria; Bruce D, Gelb; Lorenzo, Stella; Margherita, Silengo; Bruno, Dallapiccola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 161-169 - issn: 0002-9297 - wos: WOS:000299409100017 (80) - scopus: 2-s2.0-84855858089 (75)
11573/433092 - 2011 -
Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding Caputo, Viviana; Lorenzo, Sinibaldi; Alessia, Fiorentino; Chiara, Parisi; Catalanotto, Caterina; Augusto, Pasini; Cogoni, Carlo; Pizzuti, Antonio - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e28656- - issn: 1932-6203 - wos: WOS:000298369100071 (104) - scopus: 2-s2.0-83355168037 (108)
11573/427944 - 2011 -
Ago1 and Ago2 differentially affect cell proliferation, motility and apoptosis when overexpressed in SH-SY5Y neuroblastoma cells Chiara, Parisi; Corinna, Giorgi; Enrico Maria, Batassa; Laura, Braccini; Giovanna, Maresca; Igea, D'agnano; Caputo, Viviana; A., Salvatore; Flavia, Pietrolati; Cogoni, Carlo; Catalanotto, Caterina - 01a Articolo in rivista
rivista: FEBS LETTERS (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 2965-2971 - issn: 0014-5793 - wos: WOS:000295473600006 (31) - scopus: 2-s2.0-80053281360 (33)
11573/426313 - 2011 -
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations Francesca, Lepri; Alessandro De, Luca; Lorenzo, Stella; Cesare, Rossi; Giuseppina, Baldassarre; Francesca, Pantaleoni; Viviana, Cordeddu; Bradley J., Williams; Maria L., Dentici; Caputo, Viviana; Serenella, Venanzi; Michela, Bonaguro; Ines, Kavamura; Maria F., Faienza; Alba, Pilotta; Franco, Stanzial; Francesca, Faravelli; Orazio, Gabrielli; Marino Taussig De Bodonia, Bruno; Giovanni, Neri; Margherita Cirillo, Silengo; Giovanni B., Ferrero; Isabella, Torrrente; Angelo, Selicorni; Laura, Mazzanti; Maria C., Digilio; Giuseppe, Zampino; Dalla Piccola, Bruno; Bruce D., Gelb; Marco, Tartaglia - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 760-772 - issn: 1059-7794 - wos: WOS:000292551800009 (98) - scopus: 2-s2.0-79959745810 (104)
11573/390881 - 2010 -
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Simone, Martinelli; Alessandro De, Luca; Emilia, Stellacci; Cesare, Rossi; Checquolo, Saula; Francesca, Lepri; Caputo, Viviana; Marianna, Silvano; Francesco, Buscherini; Consoli, Federica; Ferrara, Grazia; Maria C., Digilio; Cavaliere, Maria Laura; Johanna M., Van Hagen; Giuseppe, Zampino; Ineke Van Der, Burgt; Giovanni B., Ferrero; Laura, Mazzanti; Screpanti, Isabella; Helger G., Yntema; Willy M., Nillesen; Ravi, Savarirayan; Martin, Zenker; Bruno, Dallapiccola; Bruce D., Gelb; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 250-257 - issn: 0002-9297 - wos: WOS:000281107000009 (199) - scopus: 2-s2.0-77955583599 (207)
11573/115572 - 2009 -
Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles. Masotti, A; Caputo, Viviana; Da Sacco, L; Pizzuti, Antonio; Dallapiccola, B; Bottazzo, Gf - 01a Articolo in rivista
rivista: JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (NEW YORK:HINDAWI PUBLISHING CORPORATION
Cairo : Dār al-Našr al-Iliktrūnī) pp. 2009:659028-2009:659028 - issn: 1110-7243 - wos: WOS:000270575300001 (20) - scopus: 2-s2.0-70349257339 (26)
11573/145265 - 2008 -
Insights into the interaction of sortilin with proneurotrophins: A computational approach Paiardini, Alessandro; Caputo, Viviana - 01a Articolo in rivista
rivista: NEUROPEPTIDES (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 205-214 - issn: 0143-4179 - wos: WOS:000254779400009 (17) - scopus: 2-s2.0-39849110118 (20)
11573/104039 - 2007 -
ROCK2 and its alternatively spliced isoform ROCK2m positively control the maturation of the myogenic program Pelosi, M.; Marampon, F.; Perlas, E.; Caputo, Viviana; Cianetti, L.; Berno, V.; Narumiya, S.; Kang, S. W.; Musaro', Antonio; Rosenthal, N.; Zani, Bianca M.; Prudente, Sabrina - 01a Articolo in rivista
rivista: MOLECULAR AND CELLULAR BIOLOGY (American Society for Microbiology / DC:1752 N Street Northwest:Washington, DC 20036:(202)737-3600, EMAIL: jadelman@asmusa.org, INTERNET: http://www.asmusa.org/asm.htm, Fax: (202)942-9342) pp. 6163-6176 - issn: 0270-7306 - wos: WOS:000248979100019 (44) - scopus: 2-s2.0-34548275925 (46)
11573/433094 - 2005 -
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism L., Silvestri; Caputo, Viviana; E., Bellacchio; L., Atorino; E. M., Valente; G., Casari; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 3477-3492 - issn: 0964-6906 - wos: WOS:000233216600014 (375) - scopus: 2-s2.0-27944444154 (404)
11573/433095 - 2005 -
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies M., Castori; E. M., Valente; M., Clementi; A. P., Tormene; F., Brancati; Caputo, Viviana; B., Dallapiccola - 01a Articolo in rivista
rivista: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (Association for Research in Vision and Ophthalmology (ARVO):12300 Twinbrook Parkway, Suite 250:Rockville, MD 20852:(240)221-2900, EMAIL: arvo@arvo.org, INTERNET: http://www.arvo.org, Fax: (240)221-0370) pp. 3539-3544 - issn: 0146-0404 - wos: WOS:000232112900012 (1) - scopus: 2-s2.0-32944477335 (1)
11573/433098 - 2004 -
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 E. M., Valente; P. M., Abou Sleiman; Caputo, Viviana; M. M. K., Muqit; K., Harvey; S., Gispert; Z., Ali; D., Del Turco; A. R., Bentivoglio; D. G., Healy; A., Albanese; R., Nussbaum; R., Gonzalez Maldonado; T., Deller; S., Salvi; P., Cortelli; W. P., Gilks; D. S., Latchman; R. J., Harvey; B., Dallapiccola; G., Auburger; N. W., Wood - 01a Articolo in rivista
rivista: SCIENCE (American Association for the Advancement of Science:1200 New York Avenue Northwest:Washington, DC 20005:(202)326-6417, (202)326-6400, EMAIL: membership@aaas.org, INTERNET: http://www.aaas.org, Fax: (202)842-1065, (202)842-1065) pp. 1158-1160 - issn: 0036-8075 - wos: WOS:000221524500043 (2681) - scopus: 2-s2.0-2442668926 (2940)
11573/433096 - 2004 -
PINK1 mutations are associated with sporadic early-onset parkinsonism Enza Maria, Valente; Sergio, Salvi; Tamara, Ialongo; Roberta, Marongiu; Antonio Emanuele, Elia; Caputo, Viviana; Luigi, Romito; Alberto, Albanese; Bruno, Dallapiccola; Anna Rita, Bentivoglio - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 336-341 - issn: 0364-5134 - wos: WOS:000223687400005 (381) - scopus: 2-s2.0-4444274910 (438)
11573/433097 - 2004 -
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism. Novelli, A; Ceccarini, C; Bernardini, L; Zuccarello, D; Caputo, Viviana; Digilio, Mc; Mingarelli, R; Dallapiccola, B. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 30-38 - issn: 0009-9163 - wos: WOS:000222097200006 (13) - scopus: 2-s2.0-3242736790 (18)
11573/433099 - 2004 -
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family. Novelli, A; Valente, Em; Bernardini, L; Ceccarini, C; Sinibaldi, L; Caputo, Viviana; Cavalli, P; Dallapiccola, B. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 579-583 - issn: 1018-4813 - wos: WOS:000222274600010 (10) - scopus: 2-s2.0-4043093416 (16)
11573/362284 - 2003 -
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene Defazio, G.; Brancati, F.; Valente, E. M.; Caputo, Viviana; Pizzuti, Antonio; Martino, D.; Abbruzzese, G.; Livrea, P.; Berardelli, Alfredo; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 207-212 - issn: 0885-3185 - wos: WOS:000181007900014 (30) - scopus: 2-s2.0-0344837904 (45)
11573/433100 - 2003 -
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 F., Brancati; E. M., Valente; G., Tadini; Caputo, Viviana; A., Di Benedetto; C., Gelmetti; B., Dallapiccola - 01a Articolo in rivista
rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 849-853 - issn: 0022-2593 - wos: WOS:000186682000012 (20) - scopus: 2-s2.0-0344010906 (24)
11573/433103 - 2002 -
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 Enza Maria, Valente; Francesco, Brancati; Caputo, Viviana; Enrico, Bertini; Clarice, Patrono; Danilo, Costanti; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 681-685 - issn: 0364-5134 - wos: WOS:000175863700004 (25) - scopus: 2-s2.0-0036260783 (40)
11573/361355 - 2002 -
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia Francesco, Brancati; Giovanni, Defazio; Caputo, Viviana; Enza Maria, Valente; Pizzuti, Antonio; Paolo, Livrea; Berardelli, Alfredo; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 392-397 - issn: 0885-3185 - wos: WOS:000174740500025 (15) - scopus: 2-s2.0-0036523847 (23)
11573/433101 - 2002 -
PARK6 is a common cause of familial parkinsonism. Valente, Em; Brancati, F; Caputo, Viviana; Graham, Ea; Davis, Mb; Ferraris, A; Breteler, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; European Consortium On Genetic Susceptibility In Parkinson's, Disease - 01a Articolo in rivista
rivista: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia
-Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 117-118 - issn: 1590-1874 - wos: WOS:000179317800034 (26) - scopus: 2-s2.0-18744380014 (32)
11573/358213 - 2002 -
PARK6-Linked Parkinsonism Occurs in Several European Families Valente, Em; F., Brancati; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, Vincenzo; Bentivoglio, Ar; De Michele, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, Viviana; Filla, A; Meco, Giuseppe; Oostra, Ba; Brice, A; Albanese, A; Dalla Piccola, Bruno; Wood, Nw; European Consortium On Genetic Susceptibility In Parkinson's, Disease - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 14-18 - issn: 0364-5134 - wos: WOS:000173084800004 (89) - scopus: 2-s2.0-0036136951 (120)