Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features

door Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo
Gepubliceerd in Mov Disord Clin Pract (2020)

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant

door Pollini, Luca, Galosi, Serena, Nardecchia, Francesca, Musacchia, Francesco, Castello, Raffaele, Nigro, Vincenzo, Leuzzi, Vincenzo
Gepubliceerd in Mov Disord Clin Pract (2019)

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

door Pollini, Luca, Galosi, Serena, Tolve, Manuela, Caputi, Caterina, Carducci, Carla, Angeloni, Antonio, Leuzzi, Vincenzo
Gepubliceerd in Int J Mol Sci (2020)

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

door Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo
Gepubliceerd in Mol Genet Metab Rep (2020)

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

door Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Schwager, Caitlin, Amudhavalli, Shivarajan, Gelineau-Morel, Rose, Chowdhury, Shimul, Friedman, Jennifer
Gepubliceerd in BMC Neurol (2020)

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

door Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Gepubliceerd in Neurol Genet (2017)

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

door Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d’Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A
Gepubliceerd in Brain (2020)