Found: 41
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Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
- Published in:
- 2021
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- Publication type:
- Correction Notice
iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 3, p. 1, doi. 10.15252/emmm.202215847
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- Publication type:
- Article
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12656, doi. 10.3390/ijms222312656
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- Publication type:
- Article
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
- Published in:
- Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
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- Publication type:
- Article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
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- Publication type:
- Article
l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.
- Published in:
- Science Signaling, 2019, v. 12, n. 586, p. N.PAG, doi. 10.1126/scisignal.aaw0936
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- Publication type:
- Article
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
- Published in:
- Scientific Reports, 2017, v. 7, n. 1, p. 1, doi. 10.1038/s41598-017-11620-3
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- Publication type:
- Article
Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083237
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- Publication type:
- Article
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 3, p. 705, doi. 10.1007/s11011-015-9780-z
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- Publication type:
- Article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
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- Publication type:
- Article
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45674-2
- By:
- Publication type:
- Article
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1516, doi. 10.1111/epi.17592
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- Publication type:
- Article
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 8, p. 1113, doi. 10.1093/clinchem/hvab091
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- Publication type:
- Article
Laboratory Diagnosis of a Case with Coenzyme Q<sub>10</sub> Deficiency.
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- Clinical Chemistry, 2020, v. 66, n. 11, p. 1465, doi. 10.1093/clinchem/hvaa202
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- Publication type:
- Article
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
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- Publication type:
- Article
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
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- Publication type:
- Article
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
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- Publication type:
- Article
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1065, doi. 10.1007/s10545-018-0235-7
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- Publication type:
- Article
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1043, doi. 10.1007/s10545-018-0226-8
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- Publication type:
- Article
Synaptic metabolism and brain circuitries in inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 909, doi. 10.1007/s10545-018-00252-y
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- Publication type:
- Article
Synaptic metabolism and brain circuitries in inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 909, doi. 10.1007/s10545-018-00252-y
- By:
- Publication type:
- Article
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1065, doi. 10.1007/s10545-018-0235-7
- By:
- Publication type:
- Article
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
- By:
- Publication type:
- Article
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1043, doi. 10.1007/s10545-018-0226-8
- By:
- Publication type:
- Article
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 19, doi. 10.1007/s10545-014-9776-6
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- Publication type:
- Article
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220
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- Publication type:
- Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
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- Publication type:
- Article
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09538-9
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- Publication type:
- Article
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156359
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- Publication type:
- Article
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
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- Publication type:
- Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
- Published in:
- 2020
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- Publication type:
- journal article
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
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- Publication type:
- Article
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.
- Published in:
- Biomedicines, 2021, v. 9, n. 2, p. 148, doi. 10.3390/biomedicines9020148
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- Publication type:
- Article
Cover, Volume 42, Issue 1.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161
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- Publication type:
- Article
GRIN database: A unified and manually curated repertoire of GRIN variants.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141
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- Publication type:
- Article
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.
- Published in:
- Biotechnology Journal, 2015, v. 10, n. 10, p. 1578, doi. 10.1002/biot.201400751
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- Publication type:
- Article
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 245, doi. 10.1007/s10048-012-0322-0
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- Publication type:
- Article