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Sabrina Buoni

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Maria Antonietta Mencarelli; Lucia Monti; Marzia Pollazzon; Sabrina Buoni; Marco Calderisi; Udo Engelke; Michele Falco; Marco Fichera; Joseph Hayek; Francesca Mari; Maria Tassini; Antonio Vivi; Ron A Wevers; Alessandra Renieri
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Maria Pintaudi; Maria Grazia Calevo; Aglaia Vignoli; Elena Parodi; Francesca Aiello; Maria Giuseppina Baglietto; Yussef Hayek; Sabrina Buoni; Alessandra Renieri; Silvia Russo; Francesca Cogliati; Lucio Giordano; Mariapaola Canevini; Edvige Veneselli
Epilepsy in Rett syndrome: clinical and genetic features.
Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

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All Publications

2011: Maria Antonietta Mencarelli; Lucia Monti; Marzia Pollazzon; Sabrina Buoni; Marco Calderisi; Udo Engelke; Michele Falco; Marco Fichera; Joseph Hayek; Francesca Mari; Maria Tassini; Antonio Vivi; Ron A Wevers; Alessandra Renieri
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
American journal of medical genetics. Part A 2011;155A(10):2446-52.
2010: Maria Pintaudi; Maria Grazia Calevo; Aglaia Vignoli; Elena Parodi; Francesca Aiello; Maria Giuseppina Baglietto; Yussef Hayek; Sabrina Buoni; Alessandra Renieri; Silvia Russo; Francesca Cogliati; Lucio Giordano; Mariapaola Canevini; Edvige Veneselli
Epilepsy in Rett syndrome: clinical and genetic features.
Epilepsy & behavior : E&B 2010;19(3):296-300.
2010: Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
European journal of human genetics : EJHG 2010;18(10):1133-40.
2010: Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; Nicole Philip
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.
American journal of medical genetics. Part A 2010;152A(7):1711-7.
2010: Raffaella Zannolli; Sabrina Buoni; Maria Tassini; Anna De Nicola; Gianni Betti; Claudio De Felice; Alessandra Orsi; Maria Concetta Varetti; Francesco Ferrara; Mario Messina; Cosimo Giannini; Angelika Mohn; Francesco Chiarelli; Marco Liberati; Mirella Strambi; Silvia Funghini; Antonio Vivi; Ron A Wevers; Joseph Hayek
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
NMR in biomedicine 2010;23(4):353-8.
2010: Sabrina Buoni; Raffaella Zannolli; Claudio De Felice; Anna De Nicola; Vanessa Guerri; Beatrice Guerra; Stefania Casali; Barbara Pucci; Letizia Corbini; Francesca Mari; Alessandra Renieri; Michele Zappella; Joseph Hayek
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2010;121(5):652-7.
2010: Maria Tassini; Raffaella Zannolli; Sabrina Buoni; Udo Engelke; Antonio Vivi; Gianni Valensin; Gajja S Salomons; Anna De Nicola; Mirella Strambi; Lucia Monti; Eva Morava; Ron A Wevers; Joseph Hayek
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.
Journal of child neurology 2010;25(1):98-101.
2010: Rosangela Artuso; Maria Antonietta Mencarelli; R Polli; Stefano Sartori; Francesca Ariani; M Pollazzon; A Marozza; M R Cilio; N Specchio; F Vigevano; M Vecchi; C Boniver; B Dalla Bernardina; A Parmeggiani; Sabrina Buoni; Giuseppe Hayek; Francesca Mari; Alessandra Renieri; A Murgia
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Brain & development 2010;32(1):17-24.
2009: Maria Valencia; Pablo Lapunzina; Derek Lim; Raffaella Zannolli; Deborah Bartholdi; Bernd Wollnik; Othman Al-Ajlouni; Suhair S Eid; Helen Cox; Sabrina Buoni; Joseph Hayek; Maria L Martinez-Frias; Perez-Aytes Antonio; Samia A Temtamy; Mona Aglan; Judith A Goodship; Victor L Ruiz-Perez
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Human mutation 2009;30(12):1667-75.
2009: Sabrina Buoni; Raffaella Zannolli; Joseph Hayek
Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Neurology 2009;73(1):76-7; author reply 77.
2009: K Melchiorre; M Liberati; C Celentano; S Domizio; C Puglielli; Sabrina Buoni; Mirella Strambi; R Zannolli
Neurological outcome following isolated 10-12 mm fetal ventriculomegaly.
Archives of disease in childhood. Fetal and neonatal edition 2009;94(4):F311-2.
2009: Udo F H Engelke; Maria Tassini; Joseph Hayek; Maaike de Vries; Appie Bilos; Antonio Vivi; Gianni Valensin; Sabrina Buoni; Raffaella Zannolli; Wim Brussel; Berry Kremer; Gajja S Salomons; Monique J B M Veendrick-Meekes; Leo A J Kluijtmans; Eva Morava; Ron A Wevers
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
NMR in biomedicine 2009;22(5):538-44.
2009: Alfredo Orrico; Marcella Zollino; Lucia Galli; Sabrina Buoni; Giuseppe Marangi; Vincenzo Sorrentino
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.
American journal of medical genetics. Part A 2009;149A(5):1033-5.
2008: Sabrina Buoni; Raffaella Zannolli; Claudio De Felice; Simona Saponari; Mirella Strambi; Maria Teresa Dotti; Elena Castrucci; Letizia Corbini; Alessandra Orsi; Joseph Hayek
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008;119(11):2455-8.
2008: Raffaella Zannolli; Sabrina Buoni; Maria Margherita De Santi; Clelia Miracco; Giuseppina Vonella; Maria Tassini; Antonio Vivi; Massimo Viviano; Tiziana Rossi; Alessandra Orsi; Renato Scarinci; Alfonso D'Ambrosio; Walter Livi; Luca Volterrani; Alberto Fois; Patrick Willems; Joseph Hayek
New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.
Brain & development 2008;30(7):461-8.
2008: Francesca Ariani; Giuseppe Hayek; Dalila Rondinella; Rosangela Artuso; Maria Antonietta Mencarelli; Ariele Spanhol-Rosseto; Marzia Pollazzon; Sabrina Buoni; ottavia spiga; Sara Ricciardi; Ilaria Meloni; Ilaria Longo; Francesca Mari; Vania Broccoli; Michele Zappella; Alessandra Renieri
FOXG1 is responsible for the congenital variant of Rett syndrome.
American journal of human genetics 2008;83(1):89-93.
2008: Raffaella Zannolli; Angelika Mohn; Sabrina Buoni; Angelo Pietrobelli; Mario Messina; Francesco Chiarelli; Clelia Miracco
Telomere length and obesity.
Acta paediatrica (Oslo, Norway : 1992) 2008;97(7):952-4.
2008: Raffaella Zannolli; Sabrina Buoni; Massimo Viviano; Francesca Macucci; Alfonso D'Ambrosio; Walter Livi; Maria Antonietta Mazzei; Francesco Mazzei; Palmino Sacco; Luca Volterrani; Giuseppina Vonella; Alessandra Orsi; Michele Zappella; Joseph Hayek
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Journal of child neurology 2008;23(6):683-9.
2008: Sabrina Buoni; Raffaella Zannolli; Clelia Miracco; Francesca Macucci; Joseph Hayek; luca burroni; Giovanni di Pietro; Luigi Sardo; Federico Mussa; Flavio Giordano; Lorenzo Genitori
Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci.
Brain & development 2008;30(1):53-8.
2007: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Renato Scarinci; Massimo Viviano; Alessandra Orsi; Giovambattista De Aloe; Michele Fimiani; Luca Volterrani; Maria Margherita De Santi; Clelia Miracco; Michele Zappella; Joseph Hayek
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.
Brain & development 2007;29(6):373-6.
2007: Sabrina Buoni; Raffaella Zannolli; Francesca Macucci; Massimo Molinelli; Massimo Viviano; Aldo Cuccia; Joseph Hayek; Luca Volterrani; Maria Margherita De Santi; Clelia Miracco; Alberto Fois
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
Pediatric dermatology 2007;24(3):267-71.
2007: Sabrina Buoni; Raffaella Zannolli; Hans R Waterham; Ronald Wanders; Alberto Fois
D-bifunctional protein deficiency associated with drug resistant infantile spasms.
Brain & development 2007;29(1):51-4.
2006: Sabrina Buoni; Raffaella Zannolli; Livio Sorrentino; Alberto Fois
Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia.
Archives of neurology 2006;63(10):1479-82.
2006: Sabrina Buoni; Raffaella Zannolli; Maria Margherita De Santi; Francesca Macucci; Joseph Hayek; Alessandra Orsi; Renato Scarinci; A Buscalferri; Aldo Cuccia; Michele Zappella; Clelia Miracco
Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2006;13(8):842-51.
2006: Raffaella Zannolli; Maurizio Zazzi; Maria Carmela Muraca; Francesca Macucci; Sabrina Buoni; Daniele Nuti
A child with vestibular neuritis. is adenovirus implicated?
Brain & development 2006;28(6):410-2.
2006: Claudio Celentano; Raffaella Zannolli; Sabrina Buoni; Sergio Domizio; Giovanni Sabatino; Cesare Colosimo; Anita Saponari; Rosanna Pallotta; James A Swift; Sigi Rotmensch; Marco Liberati
Classical lissencephaly associated with dolichocephaly, hair and nail defect.
Brain & development 2006;28(6):392-4.
2006: Sabrina Buoni; Raffaella Zannolli; Francesca Macucci; Lucia Pucci; Massimo Mogni; Mauro Pierluigi; Alberto Fois
Familial robertsonian 13;14 translocation with mental retardation and epilepsy.
Journal of child neurology 2006;21(6):531-3.
2006: Sabrina Buoni; Raffaella Zannolli; Rosanna Maria Di Bartolo; Pier Arturo Donati; Federico Mussa; Flavio Giordano; Lorenzo Genitori
Surgery removes EEG abnormalities in patients with Chiari type I malformation and poor CSF flow.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2006;117(5):959-63.
2006: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Maria M de Santi; Flavia Miracco; Mauro Pierluigi; Massimo Mogni; Paola Piomboni; Maria R Massafra; Paolo Galluzzi; Walter Livi; Aldo Cuccia; Maria Margollicci; Lucia Pucci; Palmino Sacco; Massimo Molinelli; Alberto Burlina; James A Swift; Michele Fimiani; Michele Zappella; Clelia Miracco
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Brain & development 2006;28(3):155-61.
2006: Sabrina Buoni; Alfredo Orrico; Lucia Galli; Raffaella Zannolli; luca burroni; Joseph Hayek; Alberto Fois; Vincenzo Sorrentino
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.
Neurology 2006;66(4):606-7.
2006: Sabrina Buoni; Raffaella Zannolli; Vito Colamaria; Francesca Macucci; Rosanna Maria Di Bartolo; Letizia Corbini; Alessandra Orsi; Michele Zappella; Joseph Hayek
Myoclonic encephalopathy in the CDKL5 gene mutation.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2006;117(1):223-7.
2005: Sabrina Buoni; Raffaella Zannolli; Rosanna Maria Di Bartolo; Francesca Macucci; Lucia Migliorini; R Sansoni; Carla Cellesi
Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2005;116(8):1768-70.
2005: Alfredo Orrico; Lucia Galli; Sabrina Buoni; Giuseppe Hayek; Anna Luchetti; Stefania Lorenzini; Michele Zappella; Maria Grazia Pomponi; Vincenzo Sorrentino
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
American journal of medical genetics. Part A 2005;135(1):99-102.
2004: Mirella Strambi; Piero Vezzosi; Sabrina Buoni; Silvia Berni; Mariangela Longini
Blood pressure in the small-for-gestational age newborn.
Minerva pediatrica 2004;56(6):603-10.
2004: Sabrina Buoni; Raffaella Zannolli; Francesca Macucci; S Ansaldi; M Grasso; E Arbustini; Alberto Fois
The FBN1 (R2726W) mutation is not fully penetrant.
Annals of human genetics 2004;68(Pt 6):633-8.
2004: Sabrina Buoni; Raffaella Zannolli; Francesca Macucci; Sergio Pieri; Paolo Galluzzi; Aldo Mariottini; Alberto Fois
Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome.
Neurology 2004;63(8):1539-40.
2004: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Clelia Miracco; Maria Margherita De Santi; Paola Piomboni; Emanuele Bruni; Alessandro Malandrini; Paolo Galluzzi; Theodora Hadjistilianou; S Medaglini; Maria Antonietta Mazzei; Palmino Sacco; P Terrosi Vagnoli; Luca Volterrani; Massimo Molinelli; Alberto Burlina; James A Swift; Michele Fimiani
Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
American journal of medical genetics. Part A 2004;127A(2):212-6.
2004: Sabrina Buoni; Raffaella Zannolli; Mirella Strambi; Alberto Fois
Combined treatment with vigabatrin and topiramate in West syndrome.
Journal of child neurology 2004;19(5):385-6.
2004: Sabrina Buoni; Aldo Mariottini; Sergio Pieri; Alessandro Zalaffi; Maria Angela Farnetani; Mirella Strambi; Lucio Palma; Alberto Fois
Vagus nerve stimulation for drug-resistant epilepsy in children and young adults.
Brain & development 2004;26(3):158-63.
2004: Mirella Strambi; Mariangela Longini; Piero Vezzosi; Silvia Berni; Sabrina Buoni
Selenium status, birth weight, and breast-feeding: pattern in the first month.
Biological trace element research 2004;99(1-3):71-81.
2003: Sabrina Buoni; Rosanna Maria Di Bartolo; Massimo Molinelli; Silvia Palmeri; Raffaella Zannolli
Atypical BECTS and homocystinuria.
Neurology 2003;61(8):1129-31.
2002: Paolo Galluzzi; Alfonso CERASE; Mirella Strambi; Sabrina Buoni; Alberto Fois; Carlo Venturi
Hemimegalencephaly in tuberous sclerosis complex.
Journal of child neurology 2002;17(9):677-80.
2001: Aldo Mariottini; C T Lombroso; U DeGirolami; Alberto Fois; Sabrina Buoni; A M DiTroia; Maria Angela Farnetani; Lucio Palma; Alessandro Zalaffi; P M Black
Operative results without invasive monitoring in patients with frontal lobe epileptogenic lesions.
Epilepsia 2001;42(10):1308-15.
2001: Sabrina Buoni; Massimo Molinelli; Aldo Mariottini; C Rango; S Medaglini; Sergio Pieri; Mirella Strambi; Alberto Fois
Homocystinuria with transverse sinus thrombosis.
Journal of child neurology 2001;16(9):688-90.
2001: Edvige Veneselli; Roberta Biancheri; Sabrina Buoni; Alberto Fois
Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis.
Brain & development 2001;23(5):306-11.
2000: Sabrina Buoni; Livio Sorrentino; Maria Angela Farnetani; Lucia Pucci; Alberto Fois
The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.
Journal of child neurology 2000;15(6):380-5.
2000: Edvige Veneselli; Roberta Biancheri; Maria Viviana Perrone; Sabrina Buoni; Alberto Fois
Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(3 Suppl):S75-81.
1999: Sabrina Buoni; Grosso Salvatore; Alberto Fois
Lamotrigine in typical absence epilepsy.
Brain & development 1999;21(5):303-6.
1999: Sabrina Buoni; Grosso Salvatore; Lucia Pucci; Alberto Fois
Diagnosis of Angelman syndrome: clinical and EEG criteria.
Brain & development 1999;21(5):296-302.
1998: Grosso Salvatore; Maddalena Cioni; Sabrina Buoni; L Peruzzi; Lucia Pucci; Rosario Berardi
Growth hormone secretion in Prader-Willi syndrome.
Journal of endocrinological investigation 1998;21(7):418-22.
1998: Sabrina Buoni; Grosso Salvatore; Alberto Fois
Lamotrigine treatment in childhood drug resistant epilepsy.
Journal of child neurology 1998;13(4):163-7.
1998: Sabrina Buoni; Grosso Salvatore; G Di Cosmo; Rosanna Maria Di Bartolo; V Di Marco; Alberto Fois
Segregation analysis in typical absence epilepsy.
Journal of child neurology 1998;13(2):89-93.
1996: Alberto Fois; Sabrina Buoni; S Foderi
Comment on the ACTH treatment of the West syndrome.
Brain & development 1996;18(6):469-70.
1995: Alberto Fois; M A Farnetani; Paolo Balestri; Sabrina Buoni; G Di Cosmo; A Vattimo; M Guazzelli; R Guzzardi; Piero A Salvadori
EEG, PET, SPET and MRI in intractable childhood epilepsies: possible surgical correlations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1995;11(12):672-8.
1994: Alberto Fois; Sabrina Buoni; R M Di Bartolo; V Di Marco; R Mostardini
Vigabatrin treatment in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1994;10(4):244-8.