A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia von Zannolli, Raffaella, Sabrina Buoni, Betti, Gianni, Salvucci, Sara, Plebani, Alessandro, Soresina, Annarosa, Pietrogrande, Maria C., Martino, Silvana, Leuzzi, Vincenzo, Finocchi, Andrea, Micheli, Roberto, Rossi, Livia Nicoletta, Brusco, Alfredo, Misiani, Filippo, Fois, Alberto, Hayek, Joseph, Kelly, Colleen, Chessa, Luciana

Volltext

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome von Signorini, Cinzia, De Felice, Claudio, Leoncini, Silvia, Møller, Rikke S, Zollo, Gloria, Buoni, Sabrina, Cortelazzo, Alessio, Guerranti, Roberto, Durand, Thierry, Ciccoli, Lucia, D'Esposito, Maurizio, Ravn, Kirstine, Hayek, Joussef

Volltext

Vagus nerve stimulation for drug-resistant epilepsy in children and young adults von Buoni, Sabrina, Mariottini, Aldo, Pieri, Sergio, Zalaffi, Alessandro, Farnetani, Maria Angela, Strambi, Mirella, Palma, Lucio, Fois, Alberto

Volltext

D-bifunctional protein deficiency associated with drug resistant infantile spasms von Buoni, Sabrina, Zannolli, Raffaella, Waterham, Hans, Wanders, Ronald, Fois, Alberto

Volltext

A child with vestibular neuritis. Is adenovirus implicated? von Zannolli, Raffaella, Zazzi, Maurizio, Muraca, Maria Carmela, Macucci, Francesca, Buoni, Sabrina, Nuti, Daniele

Volltext

Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci von Buoni, Sabrina, Zannolli, Raffaella, Miracco, Clelia, Macucci, Francesca, Hayek, Joseph, Burroni, Luca, di Pietro, Giovanni, Sardo, Luigi, Mussa, Federico, Giordano, Flavio, Genitori, Lorenzo

Volltext

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G von Zannolli, Raffaella, Buoni, Sabrina, Macucci, Francesca, Scarinci, Renato, Viviano, Massimo, Orsi, Alessandra, de Aloe, Giovanni, Fimiani, Michele, Volterrani, Luca, de Santi, Maria M., Miracco, Clelia, Zappella, Michele, Hayek, Joseph

Volltext

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN) von Dhanraj, Santhosh, Gunja, Sethu Madhava Rao, Deveau, Adam P, Nissbeck, Mikael, Boonyawat, Boonchai, Coombs, Andrew J, Renieri, Alessandra, Mucciolo, Mafalda, Marozza, Annabella, Buoni, Sabrina, Turner, Lesley, Li, Hongbing, Jarrar, Ameer, Sabanayagam, Mathura, Kirby, Melanie, Shago, Mary, Pinto, Dalila, Berman, Jason N, Scherer, Stephen W, Virtanen, Anders, Dror, Yigal

Volltext

Natural history of KBG syndrome in a large European cohort von Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

Volltext

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge von Zannolli, Raffaella, Buoni, Sabrina, de Santi, Margherita, Miracco, Clelia, Vonella, Giuseppina, Tassini, Maria, Vivi, Antonio, Viviano, Massimo, Rossi, Tiziana, Orsi, Alessandra, Scarinci, Renato, D’Ambrosio, Alfonso, Livi, Walter, Volterrani, Luca, Fois, Alberto, Willems, Patrick, Hayek, Joseph

Volltext

Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis von Veneselli, Edvige, Biancheri, Roberta, Buoni, Sabrina, Fois, Alberto

Volltext

Lamotrigine in typical absence epilepsy von BUONI, S, GROSSO, S, FOIS, A

Volltext

Telomere length and obesity von Zannolli, Raffaella, Mohn, Angelika, Buoni, Sabrina, Pietrobelli, Angelo, Messina, Mario, Chiarelli, Francesco, Miracco, Clelia

Volltext

Diagnosis of Angelman syndrome : clinical and EEG criteria von BUONI, S, GROSSO, S, PUCCI, L, FOIS, A

Volltext

Classical lissencephaly associated with dolichocephaly, hair and nail defect von Celentano, Claudio, Zannolli, Raffaella, Buoni, Sabrina, Domizio, Sergio, Sabatino, Giuseppe, Colosimo, Cesare, Saponari, Anita, Pallotta, Rosanna, Swift, James A., Rotmensch, Sigi, Liberati, Marco

Volltext

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study von Khaikin, Yannay, Sidky, Sarah, Abdenur, Jose, Anastasi, Arnaud, Ballhausen, Diana, Buoni, Sabrina, Chan, Alicia, Cheillan, David, Dorison, Nathalie, Goldenberg, Alice, Goldstein, Jennifer, Hofstede, Floris C., Jacquemont, Marie-Line, Koeberl, Dwight D., Lion-Francois, Laurence, Lund, Allan Meldgaard, Mention, Karine, Mundy, Helen, O'Rourke, Declan, Pitelet, Gaele, Raspall-Chaure, Miquel, Tassini, Maria, Billette de Villemeur, Thierry, Williams, Monique, Salomons, Gajja S., Mercimek-Andrews, Saadet

Volltext

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome von Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra

Volltext

Epilepsy in Rett syndrome: Clinical and genetic features von Pintaudi, Maria, Calevo, Maria Grazia, Vignoli, Aglaia, Parodi, Elena, Aiello, Francesca, Baglietto, Maria Giuseppina, Hayek, Yussef, Buoni, Sabrina, Renieri, Alessandra, Russo, Silvia, Cogliati, Francesca, Giordano, Lucio, Canevini, MariaPaola, Veneselli, Edvige

Volltext

The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings von Buoni, Sabrina, Sorrentino, Livio, Farnetani, Maria Angela, Pucci, Lucia, Fois, Alberto

Volltext

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY von Buoni, Sabrina, Zannolli, Raffaella, Hayek, Joseph

Volltext