MANTI, FILIPPO

MANTI, FILIPPO  

DIPARTIMENTO DI NEUROSCIENZE UMANE  

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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 2022 Elisa, Calì; Sheng-Jia, Lin; Clarissa, Rocca; Yavuz, Sahin; Aisha, Al Shamsi; Salima, El Chehadeh; Myriam, Chaabouni; Kshitij, Mankad; Evangelia, Galanaki; Stephanie, Efthymiou; Sniya, Sudhakar; Alkyoni, Athanasiou-Fragkouli; Tamer, Çelik; Nejat, Narlı; Sebastiano, Bianca; David, Murphy; Francisco Martins, De Carvalho Moreira; Null, Andrea Accogli; Cassidy, Petree; Kevin, Huang; Kamel, Monastiri; Masoud, Edizadeh; Rosaria, Nardello; Marzia, Ognibene; Patrizia, De Marco; Martino, Ruggieri; Federico, Zara; Pasquale, Striano; Yavuz, Şahin; Lihadh, Al-Gazali; Marie Therese, Abi Warde; Benedicte, Gerard; Giovanni, Zifarelli; Christian, Beetz; Sara, Fortuna; Miguel, Soler; Enza Maria, Valente; Gaurav, Varshney; Reza, Maroofian; Vincenzo, Salpietro; Henry, Houlden; G Hannah, Michael; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Marinova Karashova, Blagovesta; Di Rosa, Gabriella; S Goraya, Jatinder; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Macaya Ruiz, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Zamba Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Noureen Rana, Nuzhat; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; S Alkuraya, Fowzan; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; W Saadi, Nebal; S Zaki, Maha; C Triki, Chahnez; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; G Karimiani, Ehsan; M Salih, Ahmed; A Ramenghi, Luca; David, Emanuele; Curró, Riccardo; Laura Iezzi, Maria; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; F Fiorile, Maria; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; F Operto, Francesca; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Mehboob Ahmed, Muhammad; Parisi, Pasquale; Borgia, Paola; D Mangano, Giuseppe; Chiarelli, Francesco
A wearable heart rate measurement device for children with autism spectrum disorder 2020 Fioriello, F; Maugeri, A; D'Alvia, L; Pittella, E; Piuzzi, E; Rizzuto, E; Del Prete, Z; Manti, F; Sogos, C.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 2020 Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels 2019 Romani, C; Manti, F; Nardecchia, F; Valentini, F; Fallarino, N; Carducci, C; De Leo, S; Macdonald, A; Palermo, L; Leuzzi, V
Adult phenotype of KCNQ2 encephalopathy 2021 Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Møller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. 2014 Leuzzi, Vincenzo; Mannarelli, Daniela; Manti, Filippo; Pauletti, Caterina; Locuratolo, Nicoletta; Carducci, Carla; Carducci, Claudia; Nicola, Vanacore; Fattapposta, Francesco
Age–related psychophysiological vulnerability to phenylalanine in young-adult phenylketonuric subjects 2014 Leuzzi, Vincenzo; Mannarelli, Daniela; Manti, Filippo; Pauletti, Caterina; Locuratolo, Nicoletta; Carducci, Carla; Carducci, Claudia; N., Vanacore; Fattapposta, Francesco
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry 2021 Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome 2022 Faqeih, Eissa A; Alghamdi, Malak Ali; Almahroos, Marwa A; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M; Clément, Prouteau; Calame, Daniel G; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R; Pastore, Annalisa; Peake, Roy W A; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A M
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients 2021 Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Mercimek-Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer-Valls, Inés; Domingo-Jimenez, Rosario; Ibáñez, Salvador; Alcoverro-Fortuny, Oscar; Gómez-Alemany, Teresa; de Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Guder, Philipp; Santer, René; Honzík, Tomáš; Hoffmann, Georg F; Garbade, Sven F; Sivri, H Serap; Leuzzi, Vincenzo; Jeltsch, Kathrin; García-Cazorla, Angeles; Opladen, Thomas; Harting, Inga
Children's and parent's psychological profiles in selective mutism and generalized anxiety disorder. A clinical study 2018 Capozzi, Flavia; Manti, Filippo; DI TRANI, Michela; Romani, M1; Vigliante, Miriam; Sogos, Carla
Clinical characterization of tremor in patients with phenylketonuria 2019 Nardecchia, F.; Manti, F.; De Leo, S.; Carducci, C.; Leuzzi, V.
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples. 2020 Romani, Cristina; Manti, Filippo; Nardecchia, Francesca; Valentini, Federica; Fallarino, Nicoletta; Carducci, Claudia; DE LEO, Sabrina; Macdonald, Anita; Palermo, Liana; Leuzzi, Vincenzo
Cognitive vulnerability in early-treated PKU patients: a psychophysiological study. 2012 Mannarelli, Daniela; Leuzzi, Vincenzo; Manti, Filippo; S., Bertino; Pauletti, Caterina; Locuratolo, Nicoletta; V., Angelucci; M., Scarpino; Fattapposta, Francesco
Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up 2020 Mastrangelo, Mario; Manti, Filippo; Giannini, Maria Teresa; Brinciotti, Mario; Leuzzi, Vincenzo
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria 2020 Trimarco, B.; Manti, F.; Nardecchia, F.; Melogno, S.; Testa, M.; Meledandri, G.; Carducci, C.; Penge, R.; Leuzzi, V.
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria 2022 Manti, Filippo; Caviglia, Stefania; Cazzorla, Chiara; Dicintio, Annamaria; Pilotto, Andrea; Burlina, Alessandro P
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 2021 D'Abrusco, F.; Arrigoni, F.; Serpieri, V.; Romaniello, R.; Caputi, C.; Manti, F.; Jocic-Jakubi, B.; Lucarelli, E.; Panzeri, E.; Bonaglia, M. C.; Chiapparini, L.; Pichiecchio, A.; Pinelli, L.; Righini, A.; Leuzzi, V.; Borgatti, R.; Valente, E. M.
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 2024 Spagnoli, Carlotta; Battini, Roberta; Manti, Filippo; Cordelli, Duccio Maria; Pession, Andrea; Bellini, Melissa; Bordugo, Andrea; Cantalupo, Gaetano; Riva, Antonella; Striano, Pasquale; Spada, Marco; Porta, Francesco; Fusco, Carlo
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient 2023 Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V