Natalia Juliá‐Palacios

Author

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

N. Juliá-Palacios, N. Juliá‐Palacios, Natalia Alexandra Julià-Palacios, Natalia A Julià-Palacios, Natalia A. Julia‐Palacios, Natalia Alexandra Julia‐Palacios, Natalia Alexandra Juliá-Palacios, Natalia Alexandra Juliá‐Palacios, Natalia Julia-Palacios, Natalia Julia‐Palacios

Publications

708

Citations

H-Index

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases Universitat de Barcelona Instituto de Salud Carlos III Universitat de Vic - Universitat Central de Catalunya

About

Natalia Juliá‐Palacios is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	518
2	Natural Sciences	2	2	45
3	Social Sciences	2	2	52
4	Engineering	1	1	45
5	Health Sciences	1	1	44

Natalia Juliá‐Palacios

Publications

651

Citations

H-Index

Page 1

	Year	Citations
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study Thaís Armangué, Gemma Olivé-Cirera, Eugenia Martínez‐Hernández, The Lancet Neurology Multicentre Observational StudyMedicineNeurological DisorderClinical NeurologyEncephalitic Syndromes	2020	314
<i>GRIN</i> database: A unified and manually curated repertoire of <i>GRIN</i> variants Adrián García‐Recio, Ana Santos‐Gómez, David Soto, Human Mutation Relational DatabaseEngineeringDisease Gene IdentificationNatural Language ProcessingInformation Retrieval	2020	45
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome Àngels García‐Cazorla, Edgard Verdura, Natalia Juliá‐Palacios, Acta Neuropathologica Developmental BiologyMitochondrial FunctionBrain DevelopmentGenetic DisorderGenetics	2020	44
U-IMD: the first Unified European registry for inherited metabolic diseases Thomas Opladen, Florian Gleich, Viktor Kožich, Orphanet Journal of Rare Diseases	2021	38
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function Ana Santos‐Gómez, Federico Míguez‐Cabello, Adrián García‐Recio, Human Molecular Genetics Imaging GenomicsMolecular NeuroscienceVariant InterpretationGeneticsGenetic Epidemiology	2020	33
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity Laura Planas‐Serra, Nathalie Launay, Leire Goicoechea, Journal of Clinical Investigation Sphingolipid Desaturase Degs1Ceramide BiosynthesisMitochondrial BiogenesisAutophagyMetabolic Signaling	2023	32
L-serine treatment in patients with <i>GRIN</i>-related encephalopathy: a phase 2A, non-randomized study Natalia Juliá‐Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Brain	2024	25
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Genetics in Medicine Neurodevelopmental DisordersVariable Neurodevelopmental DisordersBehavioral SymptomsMendelian DisorderGenetic Disorder	2023	19
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Molecular Genetics and Metabolism GeneticsGenetic EpidemiologyHuman PolymorphismMolecular BiologyPathology	2023	18
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy Natalia Juliá‐Palacios, Cristina Molina‐Anguita, María Sigatulina Bondarenko, Developmental Medicine & Child Neurology	2022	14

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