FRANCESCA NARDECCHIA

Ricercatore universitario


email: francesca.nardecchia@uniroma1.it





CURRICULUM VITAE

Francesca NARDECCHIA



CURRENT POSITION



15 July 2021 today Assistant Professor in Child and Adolescent Neurology and Psychiatry at Sapienza, University of Rome, Department of Human Neuroscience and medical director at Policlinico Umberto I, University Hospital, via dei Sabelli 108, 00181 Rome.



EDUCATION



Nov. 2017 February 2021 PhD Degree in Clinical/Experimental Neuroscience and Psychiatry, Department of Human Neuroscience, Child Neurology and Psychiatry Institute, Sapienza, University of Rome. Supervisor: Prof. Vincenzo Leuzzi



Nov. 2013 February 2017 PhD Degree in Pharmacology, Department of Physiology and Pharmacology, Sapienza, University of Rome. Supervisor: Prof. Ferdinando Nicoletti



July 2009 June 2014 Specialization in Child and Adolescent Neurology and Psychiatry at Sapienza, University of Rome, Department of Pediatrics and Child Neurology and Psychiatry - Policlinico Umberto I, University Hospital. Final grade: 70/70 summa cum laude. Graduation thesis: The role of biogenic amine/monoamine neurotransmitters in the physiopathology of phenylketonuria (PKU) . Advisor: Prof. Vincenzo Leuzzi



February 2009 Professional Qualification of Medical Doctor at Sapienza, University of Rome



September 2002 July 2008 Medical Doctor Degree at Sapienza, University of Rome. Final grade: 110/110 summa cum laude. Graduation thesis: The neurodevelopmental hypothesis of early onset schizophrenia: changes in Wnt/GSK-3 / -catenin cascade. Advisors: Prof. Teresa I. Carratelli, Prof. Ferdinando Nicoletti



PROFESSIONAL EXPERIENCE



March 2020 July 2021 Medical director in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), via dei Sabelli 108, 00181 Rome (Permanent full-time employment).



May 2017 February 2020 Medical director in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), Via dei Sabelli 108, 00181 Rome (Temporary full-time employment)



June 2016 April 2017 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), for the project New approaches in early diagnosis and treatment for children with neurogenetic and metabolic diseases , Via dei Sabelli 108, 00181 Rome (Full-time)



April 2015 April 2016 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at ARMONIA, rehabilitation centre accredited and affiliated with the national health system, Via Piave Km. 69, 04100 Latina (40 h/month)



January 2015 March 2015 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at Casa di Cura INI S.p.A. Unipersonale Divisione Medicus, rehabilitation centre accredited and affiliated with the national health system, P.le San Giovanni di Dio, snc 00019 Tivoli (RM) (10 h/month)



November 2014 March 2015 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at VILLA ALBA, rehabilitation centre accredited and affiliated with the national health system, Via Nomentana 432, 00012 Fonte Nuova (RM) (40 h/month)



RESEARCH EXPERIENCE



Nov. 2013 February 2017 Study of metabotropic glutamate receptors in a mouse model of intellectual disability (PhD project). Department of Human Physiology and Pharmacology at Sapienza, University of Rome. Advisor: Prof. Ferdinando Nicoletti



Oct. 2015 September 2016 Research Fellowship on the effect of BH4 on biogenic amine peripheral metabolism and cognitive functions in Phenylketonuric patients. Department of Psychology, Sapienza, University of Rome. Advisor: Prof. Stefano Puglisi-Allegra



Oct. 2014 September 2015 Research Fellowship on the cognitive functions in early treated Phenylketonuric patients. Department of Pediatrics and Child Neurology and Psychiatry, Sapienza, University of Rome. Advisor: Prof. Vincenzo Leuzzi



Sept. 2011 August 2012 Molecular basis of the interallelic complementation of Phenylanaline Hydroxylase and its impact on phenotype-genotype correlation in Phenylketonuric patients. Department of Inborn Errors of Metabolism (Research Laboratory of Molecular Pediatrics) at Dr. von Hauner Children s Hospital, in Munich, Germany. Advisor: Prof. Ania C. Muntau



January 2006 July 2008 Molecular biology survey on nuclear, cytoplasmatic and serum molecular markers expressed in adolescents suffering from early onset schizophrenia (MD thesis project). Department of Human Physiology and Pharmacology at La Sapienza, University of Rome. Advisor: Prof. Ferdinando Nicoletti



CLINICAL TRIALS EXPERIENCE



January 2014 ongoing Merck Serono Protocoll EMR 700773-002: A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-old Children with Phenylkenonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years (KOGNITO)



August 2011 May 2017 Merck Serono Protocoll EMR700773-003: A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Phamacokinetics of Sapropterin Dihydrochloride (Kuvan) in Phenylketonuria (PKU) Patients



November 2010 Nov. 2021 Observational Post-Authorization Safety Study (phase IV), EMR 700773-001, Kuvan® Adult Maternal Pediatric European Registry (KAMPER)



MEMBER:

Sub-representative of the European Reference Network for Hereditary Metabolic Disorders - MetabERN

International Working Group on Neurotransmitter Related Disorders (iNTDs), Patient Registry

International Parkinson and Movement Disorder Society (MDS)

Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN)

Società Italiana di Neuropsichiatria dell Infanzia e dell Adolescenza (SINPIA)



 



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)

11573/1710540 - 2024 - Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases
Baglioni, Valentina; Bozza, Fabiola; Lentini, Giuliana; Beatrice, Annachiara; Cameli, Noemi; Colacino Cinnante, Elisa Maria; Terrinoni, Arianna; Nardecchia, Francesca; Pisani, Francesco - 01g Articolo di rassegna (Review)
rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 1-29 - issn: 2077-0383 - wos: WOS:001210033300001 (0) - scopus: 2-s2.0-85191362367 (0)

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: WOS:001202772600001 (0) - scopus: 2-s2.0-85189164198 (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)

11573/1705542 - 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: WOS:001218552700001 (2) - scopus: 2-s2.0-85188729296 (2)

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 (3) - scopus: 2-s2.0-85156096550 (2)

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 (2) - scopus: 2-s2.0-85169787496 (2)

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 (4) - scopus: 2-s2.0-85172941036 (4)

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 (2) - scopus: 2-s2.0-85165351494 (2)

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 (14) - scopus: 2-s2.0-85154532335 (14)

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 (1) - scopus: 2-s2.0-85162031200 (1)

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 (3)

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 (4) - scopus: 2-s2.0-85137748249 (4)

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 (17) - scopus: 2-s2.0-85138652591 (21)

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 (19) - scopus: 2-s2.0-85102491970 (20)

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 (3)

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 (11) - scopus: 2-s2.0-85079330780 (14)

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 (24) - scopus: 2-s2.0-85072053073 (27)

11573/1450203 - 2020 - Parkinsonism in children: Clinical classification and etiological spectrum
Leuzzi, Vincenzo; Nardecchia, Francesca; Pons, Roser; Galosi, Serena - 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:000608362300028 (12) - scopus: 2-s2.0-85094601188 (16)

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 (11) - scopus: 2-s2.0-85096525962 (13)

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 (9) - scopus: 2-s2.0-85097220068 (9)

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 (6) - scopus: 2-s2.0-85092047872 (10)

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 (3) - scopus: 2-s2.0-85081259148 (4)

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 (10)

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 (34) - scopus: 2-s2.0-85075716393 (34)

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 (15) - scopus: 2-s2.0-85074474244 (16)

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 (16) - scopus: 2-s2.0-85054739302 (19)

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 (32) - scopus: 2-s2.0-85068044550 (36)

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 (17) - scopus: 2-s2.0-85028012337 (18)

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 (8) - scopus: 2-s2.0-85006802542 (8)

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
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. 79-79 - issn: 0141-8955 - wos: (0) - scopus: (0)

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
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. 104-104 - issn: 0141-8955 - wos: (0) - scopus: (0)

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 (34) - scopus: 2-s2.0-84952636892 (32)

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
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: (0) - scopus: (0)

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
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. 106-106 - issn: 0141-8955 - wos: (0) - scopus: (0)

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 (25) - scopus: 2-s2.0-84948714771 (27)

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
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. 314-314 - issn: 0141-8955 - wos: (0) - scopus: (0)

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
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. 107-107 - issn: 0141-8955 - wos: (0) - scopus: (0)

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
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: WOS:000355893600004 (54) - scopus: 2-s2.0-84930181183 (56)

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
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. S61-S61 - issn: 0141-8955 - wos: (0) - scopus: (0)
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
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: (0) - scopus: (0)
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
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: (0) - scopus: (0)
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
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: (0) - scopus: (0)
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 (35) - scopus: 2-s2.0-84883452270 (41)
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 (Pisa: Pacini Milano: Masson Italia Editori) 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
rivista: GIORNALE DI NEUROPSICHIATRIA DELL'ETÀ EVOLUTIVA (Pisa: Pacini Milano: Masson Italia Editori) pp. 1-8 - issn: 0392-4483 - wos: (0) - scopus: (0)

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 (17) - 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
rivista: GIORNALE DI NEUROPSICHIATRIA DELL'ETÀ EVOLUTIVA (Pisa: Pacini Milano: Masson Italia Editori) pp. 374-386 - issn: 0392-4483 - wos: (0) - scopus: (0)

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