Pubblicazioni

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

2017 - EPILEPSY & BEHAVIOR

Michelucci, Roberto; Pulitano, Patrizia; Di Bonaventura, Carlo; Binelli, Simona; Luisi, Concetta; Pasini, Elena; Striano, Salvatore; Striano, Pasquale; Coppola, Giangennaro; La Neve, Angela; Giallonardo, Anna Teresa; Mecarelli, Oriano; Serioli, Elena; Dazzo, Emanuela; Fanciulli, Manuela; Nobile, Carlo

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

2017 - INFLAMMATORY BOWEL DISEASES

Conrad, MÃ¡ire A; Dawany, Noor; Sullivan, Kathleen E.; Devoto, Marcella; Kelsen, Judith R.

Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis

2017 - JOURNAL OF TRANSLATIONAL MEDICINE

Kageyama, K; Ohara, M; Saito, K; Ozaki, S; Terai, M; Mastrangelo, Mj; Fortina, P; Aplin, Ae; Sato, T

Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells

2017 - CLINICAL CANCER RESEARCH

Paolillo, C; Mu, Z; Rossi, G; Schiewer, Mj; Nguyen, T; Austin, L; Capoluongo, E; Knudsen, K; Cristofanilli, M; Fortina, P.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

2017 - EUROPEAN JOURNAL OF HUMAN GENETICS

Youssefian, L; Vahidnezhad, H; Saeidian, Ah; Sotoudeh, S; Mahmoudi, H; Daneshpazhooh, M; Aghazadeh, N; Adams, R; Ghanadan, A; Zeinali, S; Fortina, P; Uitto, J.

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed

2017 - NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Prudente, S.; Ludovico, O.; Trischitta, V.

Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS

2017 - PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciryam, Prajwal; Lambert-Smith, Isabella A.; Bean, Daniel M.; Freer, Rosie; Cid, Fernando; Tartaglia, Gian Gaetano; Saunders, Darren N.; Wilson, Mark R.; Oliver, Stephen G.; Morimoto, Richard I.; Dobson, Christopher M.; Vendruscolo, Michele; Favrin, Giorgio; Yerbury, Justin J.

Monascus purpureus for statin and ezetimibe intolerant heterozygous familial hypercholesterolaemia patients: A clinical study

2017 - ATHEROSCLEROSIS SUPPLEMENTS

Stefanutti, C.; Mazza, F.; Mesce, D.; Morozzi, C.; Di Giacomo, S.; Vitale, M.; Pergolini, M.

Targeted Next Generation Sequencing in patients with Myotonia Congenita

2017 - CLINICA CHIMICA ACTA

Ferradini, V.; Cassone, M.; Nuovo, S.; Bagni, I.; D'Apice, M. R.; Botta, A.; Novelli, G.; Sangiuolo, F.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

2017 - EUROPEAN RADIOLOGY

Romaniello, R.; Arrigoni, F.; Panzeri, E.; Poretti, A.; Micalizzi, A.; Citterio, A.; Bedeschi, M. F.; Berardinelli, A.; Cusmai, R.; D'Arrigo, S.; Ferraris, A.; Hackenberg, A.; Kuechler, A.; Mancardi, M.; Nuovo, S.; Oehl-Jaschkowitz, B.; Rossi, A.; Signorini, S.; Tuttelmann, F.; Wahl, D.; Hehr, U.; Boltshauser, E.; Bassi, M. T.; Valente, E. M.; Borgatti, R.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ãâ¢unap, Katrin; Wojcik, Monica H.; Albert, Dara V. F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, StÃÂ©phane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, StÃÂ©phanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, FranÃÂ§ois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; LafreniÃre, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L.

The Met80Ala and Tyr67His/Met80Ala mutants of human cytochrome c shed light on the reciprocal role of Met80 and Tyr67 in regulating ligand access into the heme pocket

2017 - JOURNAL OF INORGANIC BIOCHEMISTRY

Cervelli, Manuela; Mariottini, Paolo; Smulevich, Giulietta; Coletta, Massimo; Fiorucci, Laura; Battista, Theo

Clinical and genetic findings in children with central nervous system arteriovenous fistulas

2017 - ANNALS OF NEUROLOGY

Saliou, G.; Eyries, M.; Iacobucci, M.; Knebel, J. -F.; Waill, M. -C.; Coulet, F.; Ozanne, A.; Soubrier, F.

BRAF ,NRASandC-KITAdvanced Melanoma: Clinico-pathological Features, Targeted-Therapy Strategies and Survival

2017 - ANTICANCER RESEARCH

Ponti, Giovanni; Manfredini, Marco; Greco, Stefano; Pellacani, Giovanni; Depenni, Roberta; Tomasi, Aldo; Maccaferri, Monia; Cascinu, Stefano

Early hippocampal hyperexcitability in PS2APP mice: role of mutant PS2 and APP

2017 - NEUROBIOLOGY OF AGING

Fontana, Roberto.; Agostini, Mario.; Murana, Emanuele.; Mahmud, Mufti.; Scremin, Elena.; Rubega, Maria.; Sparacino, Giovanni.; Vassanelli, Stefano.; Fasolato, Cristina.

Pathophysiology of corneal dystrophies: from cellular genetic alteration to clinical findings

2016 - JOURNAL OF CELLULAR PHYSIOLOGY

SACCHETTI, MARTA; Macchi, Ilaria; TIEZZI, ALESSANDRO; LA CAVA, Maurizio; Massaro Giordano, Giacomina; LAMBIASE, ALESSANDRO

Progressive impairment of CaV1.1 function in the skeletal muscle of mice expressing a mutant type 1 Cu/Zn superoxide dismutase (G93A) linked to amyotrophic lateral sclerosis

2016 - SKELETAL MUSCLE

Beqollari, Donald; Romberg, Christin F.; Dobrowolny, Gabriella; Martini, Martina; Voss, Andrew A.; MusarÃ², Antonio; Bannister, Roger A.

Mechanisms of HBV-induced hepatocellular carcinoma

2016 - JOURNAL OF HEPATOLOGY

Levrero, Massimo; Zucman Rossi, Jessica

HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with different HCV-RNA levels

2016 - JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

Di Maio, V. C.; Cento, V.; Di Paolo, D.; Aragri, M.; De Leonardis, F.; Tontodonati, M.; Micheli, V.; Bellocchi, M. C.; Antonucci, F. P.; Bertoli, A.; Lenci, I.; Milana, M.; Gianserra, L.; Melis, M.; Di Biagio, A.; Sarrecchia, C.; Sarmati, L.; Landonio, S.; Francioso, S.; Lambiase, L.; Nicolini, L. A.; Marenco, S.; Nosotti, L.; Giannelli, V.; Siciliano, M.; Romagnoli, D.; Pellicelli, A.; Vecchiet, J.; Magni, C. F.; Babudieri, S.; Mura, M. S.; Taliani, Gloria; Mastroianni, Claudio Maria; Vespasiani Gentilucci, U.; Romano, M.; Morisco, F.; Gasbarrini, A.; Vullo, Vincenzo; Bruno, S.; Baiguera, C.; Pasquazzi, Caterina; Tisone, G.; Picciotto, A.; Andreoni, M.; Parruti, G.; Rizzardini, G.; Angelico, M.; Perno, C. F.; Ceccherini Silberstein, F; Mariani, R.; Paoloni, M.; Iapadre, N.; Grimaldi, A.; Menzaghi, B.; Quirino, T.; Vecchiet, J.; Bruzzone, B.; De Maria, A.; Di Biagio, A.; Marenco, S.; Picciotto, A.; Viscoli, C.; Casinelli, K.; Delle Monache, M.; Lichtner, Miriam; Mastroianni, Claudio Maria; Aghemo, A.; Bruno, S.; Cerrone, M.; Colombo, M.; D'Arminio Monforte, A.; Danieli, E.; Donato, F.; Gubertini, G.; Landonio, S.; Magni, C. F.; Mancon, A.; Micheli, V.; Monico, S.; Niero, F.; Puoti, M.; Rizzardini, G.; Russo, M. L.; Alfieri, R.; Gnocchi, M.; Orro, A.; Milanesi, L.; Baldelli, E.; Bertolotti, M.; Borghi, V.; Mussini, C.; Romagnoli, D.; Brancaccio, G.; Caporaso, N.; Gaeta, G. B.; Lembo, V.; Morisco, F.; Calvaruso, V.; CraxÃ, A.; Di Marco, V.; Mazzola, A.; Petta, S.; D'Amico, E.; Cacciatore, P.; Consorte, A.; Pace Palitti, V.; Parruti, G.; Pieri, A.; Polilli, E.; Tontodonati, M.; Andreoni, M.; Angelico, M.; Antenucci, F.; Antonucci, F. P.; Aragri, M.; Armenia, D.; Baiocchi, L.; Bellocchi, M.; Bertoli, A.; Biliotti, Elisa; Biolato, M.; Carioti, L.; Ceccherini Silberstein, F.; Cento, V.; Cerasari, G.; Cerva, C.; Ciotti, M.; D'Ambrosio, C.; D'Ettorre, G.; De Leonardis, F.; De Sanctis, A.; Di Maio, V. C.; Di Paolo, D.; Francioso, S.; Furlan, Caterina; Gallo, P.; Gasbarrini, A.; Giannelli, V.; Gianserra, L.; Grieco, A.; Grieco, S.; Lambiase, L.; Lattanzi, B.; Lenci, I.; Malagnino, V.; Manuelli, M.; Merli, Manuela; Miglioresi, L.; Milana, M.; Nosotti, L.; Palazzo, D.; Pasquazzi, Caterina; Pellicelli, A.; Perno, C. F.; Romano, M.; Santopaolo, F.; Santoro, M. M.; Sarmati, L.; Sarrecchia, C.; Sforza, D.; Siciliano, M.; Sorbo, M. C.; Spaziante, M.; Svicher, V.; Taliani, Gloria; Teti, E.; Tisone, G.; Vullo, Vincenzo; Mangia, A.; Babudieri, S.; Maida, I.; Melis, M.; Mura, M. S.; Falconi, L.; Di Giammartino, D.; Tarquini, P.

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

2016 - NEUROLOGICAL SCIENCES

DâAngelo, Roberto; Rinaldi, Rita; Carelli, Valerio; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Gramegna, Laura Ludovica; Lodi, Raffaele; Pinna, Antonio Daniele; Pironi, Loris; Stanzani, Marta; Tonon, Caterina; DâAlessandro, Roberto; De Giorgio, Roberto

Is the chemotherapy era in advanced non-small cell lung cancer really over? Maybe not yet

2016 - TUMORI

Lo Russo, Giuseppe; Imbimbo, Martina; Garassino, Marina Chiara

The novel R347G pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

2016 - BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Montioli, Riccardo; Paiardini, Alessandro; Kurian, Manju A.; Dindo, Mirco; Rossignoli, Giada; Heales, Simon J. R.; Pope, Simon; Voltattorni, Carla Borri; Bertoldi, Mariarita

Biochemical characterization of a multi-drug resistant HIV-1 subtype AG reverse transcriptase: antagonism of AZT discrimination and excision pathways and sensitivity to RNase H inhibitors

2016 - NUCLEIC ACIDS RESEARCH

Schneider, Anna; Corona, Angela; SpÃ£Â¶ring, Imke; Jordan, Mareike; Buchholz, Bernd; Maccioni, Elias; Di Santo, Roberto; Bodem, Jochen; Tramontano, Enzo; WÃ£Â¶hrl, Birgitta M.

Germline mutations of BRCA1 gene exon 11 are not associated with platinum response neither with survival advantage in patients with primary ovarian cancer: understanding the clinical importance of one of the biggest human exons. A study of the Tumor Bank Ovarian Cancer (TOC) Consortium

2016 - TUMOR BIOLOGY

Dimitrova, D; Ruscito, I; Olek, S; Richter, R; Hellwag, A; TÃ¼rbachova, I; Woopen, H; Baron, U; Braicu, Ei; Sehouli, J.

RNA-sequencing of Cercospora beticola DMI-sensitive and -resistant isolates after treatment with tetraconazole identifies common and contrasting pathway induction

2016 - FUNGAL GENETICS AND BIOLOGY

Bolton, Melvin D.; Ebert, Malaika K.; Faino, Luigi; Rivera-Varas, Viviana; de Jonge, Ronnie; Van de Peer, Yves; Thomma, Bart P. H. J.; Secor, Gary A.