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Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome.
- Published in:
- Scientific Reports, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41598-024-62445-w
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- Article
An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding.
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- Journal of Burn Care & Research, 2024, v. 45, n. 3, p. 805, doi. 10.1093/jbcr/irae021
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- Article
Beyond lecanemab: Examining Phase III potential in Alzheimer's therapeutics.
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- Psychiatry & Clinical Neurosciences Reports, 2024, v. 3, n. 1, p. 1, doi. 10.1002/pcn5.185
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- Article
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55293-1
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- Publication type:
- Article
A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2325, doi. 10.3390/ijms25042325
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- Article
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.
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- Scientific Reports, 2024, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50668-2
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- Publication type:
- Article
Temporal Trend of the SARS-CoV-2 Omicron Variant and RSV in the Nasal Cavity and Accuracy of the Newly Developed Antigen-Detecting Rapid Diagnostic Test.
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- Diagnostics (2075-4418), 2024, v. 14, n. 1, p. 119, doi. 10.3390/diagnostics14010119
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- Article
Severe Acute Respiratory Syndrome Coronavirus 2 Omicron Variant Kinetics in Natural Infection: A Case Study.
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- Turkish Journal of Internal Medicine, 2024, v. 6, n. 1, p. 69, doi. 10.46310/tjim.1352394
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- Article
Emerging trends in antipsychotic and antidepressant drug development: Targeting nonmonoamine receptors and innovative mechanisms.
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- Psychiatry & Clinical Neurosciences Reports, 2023, v. 2, n. 4, p. 1, doi. 10.1002/pcn5.157
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- Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
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- Publication type:
- Article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
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- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
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- Article
Early distribution of<sup>18</sup> F‐labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non‐human primates.
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- Journal of Gene Medicine, 2023, v. 25, n. 1, p. 1, doi. 10.1002/jgm.3457
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- Article
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
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- 2023
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- Publication type:
- Case Study
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.
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- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac304
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- Publication type:
- Article
Distal 2q duplication in a patient with intellectual disability.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00215-8
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- Article
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00210-z
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- Article
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
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- 2022
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- Publication type:
- Case Study
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00198-6
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- Publication type:
- Article
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10715-w
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- Article
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 19, doi. 10.1002/jmd2.12259
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- Article
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
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- Thyroid, 2021, v. 31, n. 9, p. 1316, doi. 10.1089/thy.2020.0696
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- Article
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00165-7
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- Article
Survey on children with cerebral palsy in Tochigi Prefecture, Japan.
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- Pediatrics International, 2021, v. 63, n. 8, p. 951, doi. 10.1111/ped.14536
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- Article
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic L-amino acid decarboxylase deficiency.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab078
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- Article
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00142-0
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- Publication type:
- Article
Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64322-8
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- Publication type:
- Article
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts.
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- Pharmaceutical Research, 2020, v. 37, n. 3, p. 1, doi. 10.1007/s11095-020-2779-0
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- Article
Probiotics Prevents Sensitization to Oral Antigen and Subsequent Increases in Intestinal Tight Junction Permeability in Juvenile–Young Adult Rats.
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- Microorganisms, 2019, v. 7, n. 10, p. 463, doi. 10.3390/microorganisms7100463
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- Article
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.814
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- Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
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- Article
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
- Published in:
- 2019
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- Publication type:
- journal article
Gene therapy for <italic>Glut1</italic>‐deficient mouse using an adeno‐associated virus vector with the human intrinsic GLUT1 promoter.
- Published in:
- Journal of Gene Medicine, 2018, v. 20, n. 4, p. 1, doi. 10.1002/jgm.3013
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- Publication type:
- Article
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.
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- Neuropathology, 2017, v. 37, n. 5, p. 426, doi. 10.1111/neup.12380
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- Article
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181791
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- Article
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.
- Published in:
- Journal of Neurochemistry, 2016, v. 139, n. 2, p. 245, doi. 10.1111/jnc.13832
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- Publication type:
- Article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
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- Article
Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
- Published in:
- 2016
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- Publication type:
- Correction Notice
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0337-0
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- Publication type:
- Article
De novo DNM1 mutations in two cases of epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257
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- Publication type:
- Article
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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- Publication type:
- Article
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1278, doi. 10.1007/s00415-015-7705-8
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- Publication type:
- Article
Clinical Pictures in Pelizaeus-Merzbacher Disease: A Report of a Case.
- Published in:
- 2015
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- Publication type:
- Case Study
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
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- Pediatrics International, 2015, v. 57, n. 2, p. 324, doi. 10.1111/ped.12613
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- Publication type:
- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
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- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
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- Publication type:
- Article
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
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- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
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- Publication type:
- Article
Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 5, p. 597, doi. 10.1007/s00247-013-2846-3
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- Publication type:
- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
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- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
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- Publication type:
- Article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
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- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
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- Publication type:
- Article
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e13, doi. 10.1111/epi.12508
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- Publication type:
- Article