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Scientific Reports
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November 9, 2017
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Marta Batllori, Marta Molero-Luis, Luisa Arrabal, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Expert Review of Molecular Diagnostics
|
January 30, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
Danai Veltra, Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Nina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 11, 2025
Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy
Elissavet Kollia, Eleftheria Kokkinou, Chrysa Outsika, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 26, 2019
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
Vasiliki Zouvelou, Delia Yubero, Loukia Apostolakopoulou, et al.
Journal of Inherited Metabolic Disease
|
March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 18, 2025
"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations"
Maria Spanou, Vasileios Skoutelis, Zacharias Dimitriadis, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 90) with videos related to
Sort By:
Page
of 9
Scientific Reports
|
November 9, 2017
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Marta Batllori, Marta Molero-Luis, Luisa Arrabal, et al.
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Expert Review of Molecular Diagnostics
|
January 30, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
Danai Veltra, Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Nina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 11, 2025
Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy
Elissavet Kollia, Eleftheria Kokkinou, Chrysa Outsika, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 26, 2019
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
Vasiliki Zouvelou, Delia Yubero, Loukia Apostolakopoulou, et al.
Journal of Inherited Metabolic Disease
|
March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 18, 2025
"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations"
Maria Spanou, Vasileios Skoutelis, Zacharias Dimitriadis, et al.
Page
of 9