L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.

Autor: Juliá-Palacios N; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Olivella M; Bioinformatics and Bioimaging Group. Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, 08500 Vic, Spain., Sigatullina Bondarenko M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain., Muñoz-Cabello B; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Alonso-Luengo O; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Soto-Insuga V; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain., García-Navas D; Department of Pediatric Neurology, Complejo Hospitalario Universitario de Cáceres, 10003 Cáceres, Spain., Cuesta-Herraiz L; Department of Paediatrics Neurology, Hospital de Manises, 46940 Valencia, Spain., Andreo-Lillo P; Neuropediatric Unit, Pediatric Department, University Hospital of Sant Joan d'Alacant, 03550 Sant Joan d'Alacant, Spain., Aguilera-Albesa S; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, 31008, Pamplona, Spain., Hedrera-Fernández A; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain., González Alguacil E; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain., Sánchez-Carpintero R; Pediatric Neurology Unit, Clínica Universidad de Navarra, 31080, Pamplona, Spain., Martín Del Valle F; Department of Pediatrics, Hospital Universitario Severo Ochoa, 28911 Leganés, Madrid, Spain., Jiménez González E; Department of Pediatrics, Hospital Rey Juan Carlos, 28933 Móstoles, Madrid, Spain., Cean Cabrera L; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain., Medina-Rivera I; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Perez-Ordoñez M; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Colomé R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Lopez L; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Engracia Cazorla M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Fornaguera M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Ormazabal A; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; European Reference Network for Hereditary Metabolic Diseases (MetabERN), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Alonso-Colmenero I; Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, 08950 Barcelona, Spain., Illescas KS; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Balsells-Mejía S; Department of Research Promotion and Management. Statistical Support, Hospital Sant Joan de Déu (HSJD), 08950 Barcelona, Spain., Mari-Vico R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Duffo Viñas M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Cappuccio G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Telethon Institute of Genetics and Medicine, Department of Pediatrics, Pozzuoli, 80131 Naples, Italy., Terrone G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy., Romano R; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy., Manti F; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy., Mastrangelo M; Department of Women and Child Health and Uroginecological Sciences, Sapienza University of Rome, 00185 Rome, Italy.; Child Neurology and Psychiatry Unit, Department of Neuroscience/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, 00161 Rome, Italy., Alfonsi C; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy., de Siqueira Barros B; Núcleo de Estudos da Saúde do Adolescente, Programa de Pós-Graduação em Ciências Médicas, Universidade do Estado do Rio de Janeiro, Faculdade de Ciência Médicas, 56066 Rio de Janeiro, RJ, Brazil., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Muro VL; Pediatric Neurology Unit, Hospital Britanico Buenos Aires, C1280AEB Buenos Aires, Argentina., Karall D; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Zeiner F; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy., Peterlongo I; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy., Oyarzábal A; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain., Santos-Gómez A; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain., Altafaj X; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain., García-Cazorla Á; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.

Publikováno v: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1653-1666.

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Autor: Casas-Alba D; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., López-Sala L; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Pérez-Ordóñez M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Mari-Vico R; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Bolasell M; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Muchart J; Department of Radiology, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Fernández-Fernández JM; Department de Ciències Experimentals i de la Salut, Laboratori de Fisiologia Molecular, Universitat Pompeu Fabra, Barcelona, Spain., Martorell L; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Serrano M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 256-260. Date of Electronic Publication: 2020 Oct 24.

Evaluating the regulatory function of non-coding autism-associated single nucleotide polymorphisms on gene expression in human brain tissue.

Autor: Pugsley K; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia., Namipashaki A; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia., Bellgrove MA; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia., Hawi Z; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.

Publikováno v: Autism research : official journal of the International Society for Autism Research [Autism Res] 2024 Mar; Vol. 17 (3), pp. 467-481. Date of Electronic Publication: 2024 Feb 07.