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

بواسطة Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo
الحاوية / القاعدة Mov Disord Clin Pract (2020)

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

بواسطة Pollini, Luca, Galosi, Serena, Nardecchia, Francesca, Musacchia, Francesco, Castello, Raffaele, Nigro, Vincenzo, Leuzzi, Vincenzo
الحاوية / القاعدة Mov Disord Clin Pract (2019)

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

بواسطة Pollini, Luca, Galosi, Serena, Tolve, Manuela, Caputi, Caterina, Carducci, Carla, Angeloni, Antonio, Leuzzi, Vincenzo
الحاوية / القاعدة Int J Mol Sci (2020)

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

بواسطة Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo
الحاوية / القاعدة Mol Genet Metab Rep (2020)

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

بواسطة Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Schwager, Caitlin, Amudhavalli, Shivarajan, Gelineau-Morel, Rose, Chowdhury, Shimul, Friedman, Jennifer
الحاوية / القاعدة BMC Neurol (2020)

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

بواسطة 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
الحاوية / القاعدة Neurol Genet (2017)

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

بواسطة 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
الحاوية / القاعدة Brain (2020)