FRANCESCA NARDECCHIA

Dottoressa di ricerca

ciclo: XXXIII

Produzione scientifica

11573/560203 - 9999 - Applicability of the Peroxidation of Leukocytes Index Ratio (PLIR) method on BD flow cytometer

Ilaria, Peluso; Manafikhi, Husseen; Altieri, Fabio; Raffaella, Reggi; Nardecchia, Francesca; Wassim, Mansour; Palmery, Maura - 04f Poster

11573/618612 - 9999 - Effects of a single dose of a green tea extract supplement on the Peroxidation of Leukocytes Index Ratio (PLIR) of healthy subjects.

Manafikhi, Husseen; Peluso, I; Serafini, M; Altieri, Fabio; Nardecchia, Francesca; Raguzzini, A.; Palmery, Maura - 04f Poster

congresso: 7th International Conference and Exhibition on Nutraceuticals and Functional Foods (Istanbul Turkey)

11573/1705537 - 2024 - Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

Dei Cas, Michele; Montavoci, Linda; Pasini, Claudia; Caretti, Anna; Penati, Sara; Martinelli, Carla; Gianelli, Umberto; Casati, Sara; Nardecchia, Francesca; Torella, Annalaura; Brunetti-Pierri, Nicola; Trinchera, Marco - 01a Articolo in rivista

rivista: JOURNAL OF LIPID RESEARCH (-AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 9650 ROCKVILLE PIKE, BETHESDA, USA, MD, 20814-3996 -Lipid Research Incorporated:9650 Rockville Pike:Bethesda, MD 20814:(800)633-4931, EMAIL: jlr@jlr.faseb.org, Fax: (301)634-7129) pp. - - issn: 0022-2275 - wos: (0) - scopus: 2-s2.0-85189164198 (0)

11573/1705542 - 2024 - Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome

Nardecchia, Francesca; Carrozzo, Rosalba; Innocenti, Alice; Torraco, Alessandra; Zaccaria, Valerio; Rizza, Teresa; Pisani, Francesco; Bertini, Enrico; Leuzzi, Vincenzo - 01i Case report

rivista: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY () pp. - - issn: 2328-9503 - wos: WOS:001158486800001 (0) - scopus: 2-s2.0-85184427226 (0)

11573/1706773 - 2024 - Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights

Scala, Iris; Brodosi, Lucia; Gueraldi, Daniela; Manti, Filippo; Rovelli, Valentina; Zuvadelli, Juri; Agnelli, Giulio; Cazzorla, Chiara; Nardecchia, Francesca; Giammanco, Antonina; Biasucci, Giacomo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. - - issn: 1096-7192 - wos: (0) - scopus: 2-s2.0-85188729296 (0)

11573/1689251 - 2023 - Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

De Giorgi, Agnese; Nardecchia, Francesca; Manti, Filippo; Campistol, Jaume; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)

rivista: MOLECULAR GENETICS AND METABOLISM (San Diego, CA : Academic Press, 1998-) pp. 107588- - issn: 1096-7206 - wos: WOS:001001169000001 (0) - scopus: 2-s2.0-85156096550 (0)

11573/1705544 - 2023 - Metabolic control and clinical outcome in adolescents with phenylketonuria

De Giorgi, Agnese; Nardecchia, Francesca; Romani, Cristina; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (San Diego, CA : Academic Press, 1998-) pp. - - issn: 1096-7206 - wos: WOS:001072639100001 (0) - scopus: 2-s2.0-85169787496 (0)

11573/1689254 - 2023 - Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria

Manti, Filippo; Nardecchia, Francesca; De Leo, Sabrina; Carducci, Claudia; Romani, Cristina; Palermo, Liana; Angeloni, Antonio; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 107666- - issn: 1096-7192 - wos: WOS:001054962500001 (1) - scopus: 2-s2.0-85172941036 (1)

11573/1689255 - 2023 - Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient

Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V - 01i Case report

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 1430-1432 - issn: 2330-1619 - wos: WOS:001032414100001 (0) - scopus: 2-s2.0-85165351494 (0)

11573/1705193 - 2023 - GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)

rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. - - issn: 1353-8020 - wos: WOS:001010021100001 (0) - scopus: 2-s2.0-85154532335 (8)

11573/1689252 - 2023 - The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

Pannone, Luca; Muto, Valentina; Nardecchia, Francesca; Di Rocco, Martina; Marchei, Emilia; Tosato, Federica; Petrini, Stefania; Onorato, Giada; Lanza, Enrico; Bertuccini, Lucia; Manti, Filippo; Folli, Viola; Galosi, Serena; Di Schiavi, Elia; Leuzzi, Vincenzo; Tartaglia, Marco; Martinelli, Simone - 01a Articolo in rivista

rivista: FRONTIERS IN MOLECULAR NEUROSCIENCE (Lausanne: Frontiers Research Foundation, 2008-) pp. - - issn: 1662-5099 - wos: WOS:001005651400001 (0) - scopus: 2-s2.0-85162031200 (0)

11573/1632460 - 2022 - Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine

Bianchi, M.; Rossi, L.; Pierige, F.; De Angeli, P.; Aliano, M. P.; Carducci, C.; Di Carlo, E.; Pascucci, T.; Nardecchia, F.; Leuzzi, V.; Magnani, M. - 01a Articolo in rivista

rivista: MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT (New York, NY:Elsevier New York, NY: Nature Publishing Group, [2014]-) pp. 26-40 - issn: 2329-0501 - wos: WOS:000787780400004 (1) - scopus: 2-s2.0-85125831922 (1)

11573/1656558 - 2022 - A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

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 - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Inc. Baltimore MD: Lippincott Williams & Wilkins) pp. - - issn: 1530-0366 - wos: WOS:000879580900020 (1) - scopus: 2-s2.0-85136518302 (1)

11573/1666778 - 2022 - Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy

Galosi, Serena; Pollini, Luca; Nardecchia, Francesca; Cellini, Elena; Guerrini, Renzo; Leuzzi, Vincenzo - 01i Case report

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. - - issn: 2330-1619 - wos: WOS:000852575400012 (1) - scopus: 2-s2.0-85137748249 (1)

11573/1605349 - 2022 - Looking back at the neonatal period in early-treated phenylketonuric patients

Leuzzi, Vincenzo; Nardecchia, Francesca - 01b Commento, Erratum, Replica e simili

rivista: PEDIATRIC RESEARCH (-INT PEDIATRIC RESEARCH FOUNDATION, INC, 351 WEST CAMDEN ST, BALTIMORE, USA, MD, 21201-2436 -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. - - issn: 0031-3998 - wos: WOS:000744825700001 (0) - scopus: 2-s2.0-85123203406 (0)

11573/1632462 - 2022 - 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V. - 01i Case report

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 4422- - issn: 1661-6596 - wos: WOS:000785245200001 (1) - scopus: 2-s2.0-85128272345 (2)

11573/1653346 - 2022 - Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Ruoppolo, Margherita; Malvagia, Sabrina; Boenzi, Sara; Carducci, Carla; Dionisi-Vici, Carlo; Teofoli, Francesca; Burlina, Alberto; Angeloni, Antonio; Aronica, Tommaso; Bordugo, Andrea; Bucci, Ines; Camilot, Marta; Carbone, Maria Teresa; Cardinali, Roberta; Carducci, Claudia; Cassanello, Michela; Castana, Cinzia; Cazzorla, Chiara; Ciatti, Renzo; Ferrari, Simona; Frisso, Giulia; Funghini, Silvia; Furlan, Francesca; Gasperini, Serena; Gragnaniello, Vincenza; Guzzetti, Chiara; La Marca, Giancarlo; La Spina, Luisa; Lorè, Tania; Meli, Concetta; Messina, Mariaanna; Morrone, Amelia; Nardecchia, Francesca; Ortolano, Rita; Parenti, Giancarlo; Pavanello, Enza; Pieragostino, Damiana; Pillai, Sara; Porta, Francesco; Righetti, Francesca; Rossi, Claudia; Rovelli, Valentina; Salina, Alessandro; Santoro, Laura; Sauro, Pina; Schiaffino, Maria Cristina; Simonetti, Simonetta; Vincenzi, Monica; Tarsi, Elisabetta; Uccheddu, Anna Paola - 01a Articolo in rivista

rivista: INTERNATIONAL JOURNAL OF NEONATAL SCREENING (Basel: MDPI AG, 2015-) pp. 47- - issn: 2409-515X - wos: WOS:000857740800001 (9) - scopus: 2-s2.0-85138652591 (13)

11573/1541832 - 2021 - New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M. - 01a Articolo in rivista

rivista: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. - - issn: 0340-5354 - wos: WOS:000627716700005 (15) - scopus: 2-s2.0-85102491970 (16)

11573/1566940 - 2021 - Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency

Rossi, L.; Nardecchia, F.; Pierige, F.; Ventura, R.; Carducci, C.; Leuzzi, V.; Magnani, M.; Cabib, S.; Pascucci, T. - 01g Articolo di rassegna (Review)

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 1201- - issn: 2073-4425 - wos: WOS:000689108200001 (2) - scopus: 2-s2.0-85112630611 (2)

11573/1386555 - 2020 - Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features

Galosi, S.; Nardecchia, F.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 154-166 - issn: 2330-1619 - wos: WOS:000510776400001 (10) - scopus: 2-s2.0-85079330780 (12)

11573/1410134 - 2020 - Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines

Leuzzi, V.; Chiarotti, F.; Nardecchia, F.; Van Vliet, D.; Van Spronsen, F. J. - 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. 145-150 - issn: 0022-2593 - wos: WOS:000518193900001 (23) - scopus: 2-s2.0-85072053073 (25)

11573/1450203 - 2020 - Parkinsonism in children: Clinical classification and etiological spectrum

Leuzzi, Vincenzo; Nardecchia, Francesca; Pons, Roser; Galosi, Serena - 01g Articolo di rassegna (Review)

11573/1429948 - 2020 - Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients

Manti, Filippo; Nardecchia, Francesca; Banderali, Giuseppe; Burlina, Alberto; Carducci, Carla; Carducci, Claudia; Alice Donati, Maria; Gueraldi, Daniela; Paci, Sabrina; Pochiero, Francesca; Porta, Francesco; Ortolano, Rita; Rovelli, Valentina; Cristina Schiaffino, Maria; Spada, Marco; Blau, Nenad; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (San Diego, CA : Academic Press, 1998-) pp. - - issn: 1096-7206 - wos: WOS:000600626600017 (9) - scopus: 2-s2.0-85096525962 (11)

11573/1465819 - 2020 - Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

Nardecchia, Francesca; De Giorgi, Agnese; Palombo, Flavia; Fiorini, Claudio; De Negri, Anna M; Carelli, Valerio; Caporali, Leonardo; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY () pp. - - issn: 2328-9503 - wos: WOS:000596118800001 (7) - scopus: 2-s2.0-85097220068 (8)

11573/1386553 - 2020 - Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; Di Carlo, E.; Carducci, C.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100560- - issn: 2214-4269 - wos: WOS:000514810400017 (2) - scopus: 2-s2.0-85077397074 (2)

11573/1442914 - 2020 - Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.

Romani, Cristina; Manti, Filippo; Nardecchia, Francesca; Valentini, Federica; Fallarino, Nicoletta; Carducci, Claudia; De Leo, Sabrina; Macdonald, Anita; Palermo, Liana; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: NUTRIENTS (Basel, Switzerland: Molecular Diversity Preservation International (MDPI)) pp. - - issn: 2072-6643 - wos: WOS:000585383600001 (3) - scopus: 2-s2.0-85092047872 (8)

11573/1378740 - 2020 - Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

Trimarco, B.; Manti, F.; Nardecchia, F.; Melogno, S.; Testa, M.; Meledandri, G.; Carducci, C.; Penge, R.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100577- - issn: 2214-4269 - wos: WOS:000540232600004 (2) - scopus: 2-s2.0-85081259148 (2)

11573/1333933 - 2019 - Clinical characterization of tremor in patients with phenylketonuria

Nardecchia, F.; Manti, F.; De Leo, S.; Carducci, C.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 53-56 - issn: 1096-7192 - wos: WOS:000446176700455 (0) - scopus: 2-s2.0-85067182434 (9)

11573/1386557 - 2019 - Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant

Pollini, L.; Galosi, S.; Nardecchia, F.; Musacchia, F.; Castello, R.; Nigro, V.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 118-119 - issn: 2330-1619 - wos: WOS:000498133600001 (5) - scopus: 2-s2.0-85075480182 (6)

11573/1333883 - 2019 - Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

Romani, C; Manti, F; Nardecchia, F; Valentini, F; Fallarino, N; Carducci, C; De Leo, S; Macdonald, A; Palermo, L; Leuzzi, V - 01a Articolo in rivista

rivista: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. - - issn: 1750-1172 - wos: WOS:000501780900002 (29) - scopus: 2-s2.0-85075716393 (29)

11573/1349390 - 2019 - Untreated PKU patients without intellectual disability: What do they teach us?

Van Vliet, D.; Van Wegberg, A. M. J.; Ahring, K.; Bik-Multanowski, M.; Casas, K.; Didycz, B.; Djordjevic, M.; Hertecant, J. L.; Leuzzi, V.; Mathisen, P.; Nardecchia, F.; Powell, K. K.; Rutsch, F.; Stojiljkovic, M.; Trefz, F. K.; Usurelu, N.; Wilson, C.; Van Karnebeek, C. D.; Hanley, W. B.; Van Spronsen, F. J. - 01a Articolo in rivista

rivista: NUTRIENTS (Basel, Switzerland: Molecular Diversity Preservation International (MDPI)) pp. 2572- - issn: 2072-6643 - wos: WOS:000502274600023 (12) - scopus: 2-s2.0-85074474244 (15)

11573/1211156 - 2018 - Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism

Manti, F; Nardecchia, F; Barresi, S; Venditti, M; Pizzi, S; Hamdan, Ff; Blau, N; Burlina, A; Tartaglia, M; Leuzzi, V - 01a Articolo in rivista

rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 1-4 - issn: 1353-8020 - wos: WOS:000468719900036 (14) - scopus: 2-s2.0-85054739302 (16)

11573/1090127 - 2018 - Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria

Nardecchia, Francesca; Orlando, Rosamaria; Iacovelli, Luisa; Colamartino, Marco; Fiori, Elena; Leuzzi, Vincenzo; Piccinin, Sonia; Nistico, Robert; Puglisi-Allegra, Stefano; Di Menna, Luisa; Battaglia, Giuseppe; Nicoletti, Ferdinando; Pascucci, Tiziana - 01a Articolo in rivista

rivista: FRONTIERS IN NEUROSCIENCE (Lausanne : EPFL : Frontiers Research Foundation, 2007-) pp. - - issn: 1662-453X - wos: WOS:000427611300001 (10) - scopus: 2-s2.0-85044003015 (8)

11573/1209819 - 2018 - Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration

Nasca, Alessia; Nardecchia, Francesca; Commone, Anna; Semeraro, Michela; Legati, Andrea; Garavaglia, Barbara; Ghezzi, Daniele; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-8021 - wos: WOS:000452653600001 (31) - scopus: 2-s2.0-85068044550 (34)

11573/1141993 - 2018 - Can untreated PKU patients escape from intellectual disability? A systematic review

Van Vliet, Danique; Van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D.; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; Jørgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö.; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K.; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; Van Karnebeek, Clara D.; Hanley, William B.; Van Spronsen, Francjan J. - 01a Articolo in rivista

rivista: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. 149- - issn: 1750-1172 - wos: WOS:000443118000002 (11) - scopus: 2-s2.0-85052736270 (23)

11573/1498126 - 2017 - Presentazione atipica di neuropatia ottica di leber

Di Maggio, C; Nardecchia, F; Carrozzo, R; Pucci, C; Mattiucci, C; Varrasso, G; De Negri, A; Plateroti, R; Torraco, A; Bertini, E; Leuzzi, V; Moramarco, A - 04d Abstract in atti di convegno

congresso: VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017 (Rome, Italy)

libro: ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017 - ()

11573/1005574 - 2017 - Predictability and inconsistencies in the cognitive outcome of early treated PKU patients

Manti, Filippo; Nardecchia, Francesca; Paci, Sabrina; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Dalmazzone, Silvia; Cefalo, Graziella; Salvatici, Elisabetta; Banderali, Giuseppe; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. 1-7 - issn: 0141-8955 - wos: WOS:000413299800005 (15) - scopus: 2-s2.0-85028012337 (16)

11573/1498146 - 2017 - Leucodistrofia metacromatica: un caso di pubertà precoce

Nardecchia, F; Poratti, E; Dimiccoli, P; Di Maggio, C; Commone, A; Pucci, C; Leuzzi, V - 04d Abstract in atti di convegno

congresso: VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017 (Rome, Italy)

libro: ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017 - ()

11573/983736 - 2017 - Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency

Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Santagata, Silvia; Valentini, Giulia; Angeloni, Antonio; Blau, Nenad; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF PEDIATRICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 917-924 - issn: 0340-6199 - wos: WOS:000403771700010 (0) - scopus: 2-s2.0-85019592447 (1)

11573/934767 - 2017 - Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampus

Panaccione, Isabella; Iacovelli, Luisa; Di Nuzzo, Luigi; Nardecchia, Francesca; Mauro, Gianluca; Janiri, Delfina; De Blasi, Antonio; Sani, Gabriele; Nicoletti, Ferdinando; Orlando, Rosamaria - 01a Articolo in rivista

rivista: PHARMACOLOGICAL RESEARCH (Attuale:ACADEMIC PRESS LTD ELSEVIER SCIENCE LTD, 24-28 OVAL RD, LONDON, ENGLAND, NW1 7DX 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. 46-53 - issn: 1043-6618 - wos: WOS:000395845000005 (7) - scopus: 2-s2.0-85006802542 (7)

11573/982305 - 2016 - Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)

Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/869257 - 2016 - Erythrocyte-mediated delivery of recombinant enzymes

Leuzzi, Vincenzo; Rossi, Luigia; Gabucci, Claudia; Nardecchia, Francesca; Magnani, Mauro - 01a Articolo in rivista

rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000379076800006 (13) - scopus: 2-s2.0-84962300188 (17)

11573/956563 - 2016 - Vulnerability and resilience to phenylalanine in PKU patients.

Manti, Filippo; Nardecchia, F; Paci, S; Chiarotti, F; Carducci, Carla; Dalmazzone, S; Giordano, L; Cefalo, G; Banderali, G; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/853284 - 2016 - Psychiatric disorders in adolescent and young adult patients with phenylketonuria

Manti, Filippo; Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 12-18 - issn: 1096-7192 - wos: WOS:000368220400003 (32) - scopus: 2-s2.0-84952636892 (28)

11573/982300 - 2016 - Secondary pterins alteration in patients with phenylalanine hydroxylase deficit

Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/812414 - 2015 - Psychiatric disturbances in adolescent and adult phenylketonuric patients

Manti, Filippo; Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/790011 - 2015 - The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study

Mastrangelo, Mario; Chiarotti, Flavia; Berillo, Luana; Caputi, Caterina; Carducci, Claudia; Di Biasi, Claudio; Manti, Filippo; Nardecchia, Francesca; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 171-177 - issn: 1096-7192 - wos: WOS:000364984200011 (24) - scopus: 2-s2.0-84948714771 (25)

11573/812465 - 2015 - Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene

Nardecchia, Francesca; Artiola, Cristiana; Carducci, Claudia; Carducci, Carla; Giovanniello, Teresa; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/812513 - 2015 - Optic neuropathy in an adult PKU patient during long term follow-up

Nardecchia, Francesca; Danti, Federica Rachele; Berillo, Luana; Manti, Filippo; Mittica, A; Nebbioso, M; Carducci, Claudia - 04c Atto di convegno in rivista

11573/785396 - 2015 - Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

Nardecchia, Francesca; Manti, Filippo; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo - 01a Articolo in rivista

11573/618611 - 2014 - Effects of a single dose of a green tea extract supplement on the Peroxidation of Leukocytes Index Ratio (PLIR) of healthy subjects

Manafikhi, Husseen; Peluso, I; Serafini, M; Altieri, Fabio; Nardecchia, Francesca; Raguzzini, A; Palmery, Maura - 04f Poster

congresso: Convegno Monotematico "Farmacognosia: Nuove opportunità terapeutiche del mondo vegetale" (Napoli, Italia)

11573/762172 - 2014 - The effect of blood Phe levels on plasma concentrations of biogenic amine in PKU patients

Nardecchia, Francesca; Pascucci, Tiziana; Carducci, Claudia; Puglisi Allegra, S.; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

congresso: SSIEM 2014 Annual Symposium (Innsbruck, Austria)

11573/541809 - 2013 - Neurocognitive and neuroimaging outcome of early treated PKU subjects. First longitudinal study

Leuzzi, Vincenzo; M., Pansini; Nardecchia, Francesca; M., Nori; A., Santamaria Palombo; Carducci, Claudia; Carducci, Carla - 04c Atto di convegno in rivista

congresso: International Congress of Inborn Errors of Metabolism (Barcelona)

11573/541808 - 2013 - Mechanisms underlying interallelic complementation: lesson learnt from phenylketonuria, glutaric aciduria type 1 and Alzheimer disease

M. K., Danecka; D. D., Reiss; Nardecchia, Francesca; A. C., Muntau; S. W., Gersting - 04d Abstract in atti di convegno

congresso: International Congress of Inborn Errors of Metabolism (Barcelona)

11573/541810 - 2013 - Comparing tetrahydrobiopterin with sapropterin laoding tests

Nardecchia, Francesca; Carducci, Carla; Carducci, Claudia; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

congresso: International Congress of Inborn Errors of Metabolism (Barcelona)

11573/538423 - 2013 - Metabolic epilepsy, an update

Papetti, Laura; Parisi, Pasquale; Leuzzi, Vincenzo; Nardecchia, Francesca; Nicita, Francesco; Ursitti, Fabiana; Francesca, Marra; Paolino, Maria Chiara; Spalice, Alberto - 01g Articolo di rassegna (Review)

rivista: BRAIN & DEVELOPMENT (Tokyo: B & D Pub. Society) pp. 827-841 - issn: 0387-7604 - wos: WOS:000325044300001 (33) - scopus: 2-s2.0-84883452270 (39)

libro: Brain & development - ()

11573/541806 - 2012 - Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes

Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'agnano, Daniela; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000307513100116 (0) - scopus: (0)

congresso: SSIEM, Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (Birmingham)

11573/541807 - 2012 - Severe early onset ethylmalonic encephalopathy with West syndrome

Papetti, Laura; A., Spalice; Nardecchia, Francesca; Papoff, Paola; Nicita, Francesco; Ursitti, Fabiana; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000307513100408 (0) - scopus: (0)

congresso: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (Birmingham)

11573/409350 - 2011 - The diagnosis of autosomal dominant Guanosine Triphosphate-Cyclohydrolase 1 Deficiency (Segawa Disease): the combined role of urine pterins and phenylalanine loading test.

Leuzzi, Vincenzo; Carducci, Claudia; Nardecchia, Francesca; D'agnano, Daniela; Mt, Giannini; Antonozzi, Italo; Carducci, Carla - 04c Atto di convegno in rivista

rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S105- - issn: 0141-8955 - wos: WOS:000309837800104 (0) - scopus: (0)

congresso: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (Ginevra)

11573/494297 - 2011 - Patologie dei trasportatori ed affezioni neurologiche e psichiatriche in età evolutiva

Nardecchia, Francesca; Saulle, Cosetta; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: GIORNALE DI NEUROPSICHIATRIA DELL'ETÀ EVOLUTIVA (Pacini Editore Srl:via A Gherardesca 1, I 5I6121 Ospedaletto Pisa Italy:011 39 050 3130240, EMAIL: abbonamenti@mail.pacinieditore.it, INTERNET: http://www.pacinieditore.it, Fax: 011 39 050 3130300) pp. 169-177 - issn: 0392-4483 - wos: (0) - scopus: (0)

11573/541804 - 2011 - La formazione in psichiatria infantile: tra storie e prospettive

Sabatello, Ugo; Nardecchia, Francesca - 04c Atto di convegno in rivista

11573/118772 - 2010 - Cannabis, psicosi, adolescenza: recenti dati clinici e sperimentali

Ferrara, Mauro; Nardecchia, Francesca; Ferroni, C. S; Ardizzone, I. - 01a Articolo in rivista

rivista: PSICHIATRIA DELL'INFANZIA E DELL'ADOLESCENZA (-Roma : Armando Editore, 2009- -Roma : Edizioni Borla, 1984 - 2008) pp. 502-514 - issn: 0393-361X - wos: (0) - scopus: (0)

11573/118771 - 2010 - Antipsychotic Medication in Adolescents Suffering from Schizophrenia: A Meta-Analysis of Randomized Controlled Trials

I., Ardizzone; Nardecchia, Francesca; Marconi, Arianna; Carratelli, Teresa Iole; Ferrara, Mauro - 01a Articolo in rivista

rivista: PSYCHOPHARMACOLOGY BULLETIN (Medworks Media:375 West Broadway, Suite 501:New York, NY 10012:(212)343-3400, EMAIL: ly@medworksmedia.com, INTERNET: http://www.medworksmedia.com, Fax: (212)343-2225) pp. 45-66 - issn: 0048-5764 - wos: WOS:000291971400003 (15) - scopus: 2-s2.0-84863556736 (2)

11573/538422 - 2009 - [Obstetric complications and early-onset schizophrenia: a case-control study].

Ardizzone, I; Marconi, Arianna; Nardecchia, Francesca - 01a Articolo in rivista

rivista: RIVISTA DI PSICHIATRIA (Roma: Il Pensiero Scientifico Editore) pp. - - issn: 0035-6484 - wos: WOS:000265653500007 (6) - scopus: 2-s2.0-67449167853 (6)

libro: Rivista di psichiatria - ()

11573/541803 - 2008 - L’ipotesi neuroevolutiva della schizofrenia: il ruolo della via di Wnt

I., Ardizzone; Nardecchia, Francesca; Carratelli, Teresa Iole - 01a Articolo in rivista