Cerebral Palsy and Neurodisability
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Maria Del Rosario Rivas Lozán, Maria Luisa Stiglich Watson, Luis Augusto Quispe Ojeda, Patricia Campos Olazabal |
Metabolic Disorders
2-HydroxyGlutaric Aciduria in Saudi Arabia | |
Majed J. Dasouki, Lujane Yousef, Minnie Jacob, Asmahan Ahmad, Ekhlass Quraan, Basma AlRasheed, Ali Odaib, Mohamed Alamoodi |
Manganese transporter defect in a child: A rare case report | |
Mahesh Kamate, Virupaxi Hattiholi, Pournima Patil, Vincenzo Bonifati, Marialuisia Quadri |
“Mucopolysaccharidosis type IV A: Evidence of Primary and Secondary Central Nervous System Involvement” | |
Felippe Borlot, Paula R Arantes, Caio R Quaio, José FS Franco, Charles M Lourenço, Israel Gomy, Debora R Bertola, Chong Ae Kim |
"NEW INSIGHTS IN MUCOPOLYSACCHARIDOSIS TYPE VI: NEUROLOGICAL PERSPECTIVE" | |
Felippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, José Francisco da Silva Franco, Charles Marques Lourenço, Debora Romeo Bertola, Chong Ae Kim |
Neurogenetics
Proteolipid protein 1 and gap junction α12 gene mutations in 72 Chinese patients with Pelizaeus-Merzbacher disease/ Pelizaeus-Merzbacher like disease and prenatal diagnosis of 15 fetuses in twelve Chinese families with PMD probands | |
Jingmin Wang, Dongxiao Li, Dongxiao Li, Ye Wu, Ye Wu, Jiangxi Xiao, Jiangxi Xiao, Xinhua Bao, Xinhua Bao, Hui Xiong, Hui Xiong, Jiong Qin, Jiong Qin, Xiru Wu, Xiru Wu, Yuwu Jiang, Yuwu Jiang |
DEFECTS IN THE SYNTHESIS OF PROTEOLIPID PROTEIN, DIFFERENT FORMS OF PRESENTATION FOR DEFECTS IN THE SAME GENE. | |
Daniela Muñoz, Mónica Troncoso, Paola Santander, Carolina Quintana, Ledia Troncoso, Patricio Guerra, María José Hidalgo, Rodrigo Diaz, Ana Flandes, Andrés Barrios |
ATP1A3 gene de novo mutation causing Alternating Hemiplegia of Childhood in an Ecuadorian girl. | |
Bolivar Fabian Quito-Betancourt, Kathryn J. Swoboda, Tara Newcomb |
Neuroimmunology
Anti-NMDA receptor encephalitis. First case with confirmed circulating antibodies in Ecuador | |
Bolivar Fabian Quito-Betancourt, Bolivar Fabian Quito-Betancourt |
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