Found: 91
Select item for more details and to access through your institution.
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal 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.
- Published in:
- Journal of Gene Medicine, 2023, v. 25, n. 1, p. 1, doi. 10.1002/jgm.3457
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
- By:
- Publication type:
- Article
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.
- Published in:
- Neuropathology, 2017, v. 37, n. 5, p. 426, doi. 10.1111/neup.12380
- By:
- Publication type:
- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
- By:
- 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.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
- By:
- 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.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
- By:
- Publication type:
- Article
Potentiation of ATP-induced currents due to the activation of P2X receptors by ubiquitin carboxy-terminal hydrolase L1.
- Published in:
- Journal of Neurochemistry, 2005, v. 92, n. 5, p. 1061, doi. 10.1111/j.1471-4159.2004.02963.x
- By:
- Publication type:
- Article
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8
- By:
- Publication type:
- Article
Subunit interface selective toxins as probes of nicotinic acetylcholine receptor structure.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 440, n. 7, p. r115, doi. 10.1007/s004240000028
- By:
- Publication type:
- Article
Subunit interface selective toxins as probes of nicotinic acetylcholine receptor structure.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 440, p. R115, doi. 10.1007/s004240000028
- By:
- Publication type:
- Article
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 1, p. 48, doi. 10.1002/ana.23736
- By:
- 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.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2325, doi. 10.3390/ijms25042325
- By:
- Publication type:
- Article
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
- By:
- 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.
- Published in:
- Pharmaceutical Research, 2020, v. 37, n. 3, p. 1, doi. 10.1007/s11095-020-2779-0
- By:
- Publication type:
- Article
Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways.
- Published in:
- Journal of Comparative Neurology, 2003, v. 467, n. 1, p. 44, doi. 10.1002/cne.10913
- By:
- Publication type:
- Article
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 782, doi. 10.1038/ng.150
- By:
- Publication type:
- Article
Proteomic analysis of brain proteins in the gracile axonal dystrophy ( gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl-terminal hydrolase L-1, reveals oxidation of key proteins.
- Published in:
- Journal of Neurochemistry, 2004, v. 88, n. 6, p. 1540, doi. 10.1046/j.1471-4159.2003.02288.x
- By:
- Publication type:
- Article
Overexpression of ubiquitin carboxyl‐terminal hydrolase L1 arrests spermatogenesis in transgenic mice.
- Published in:
- Molecular Reproduction & Development, 2006, v. 73, n. 1, p. 40, doi. 10.1002/mrd.20364
- By:
- Publication type:
- Article
Beyond lecanemab: Examining Phase III potential in Alzheimer's therapeutics.
- Published in:
- Psychiatry & Clinical Neurosciences Reports, 2024, v. 3, n. 1, p. 1, doi. 10.1002/pcn5.185
- By:
- Publication type:
- Article
Emerging trends in antipsychotic and antidepressant drug development: Targeting nonmonoamine receptors and innovative mechanisms.
- Published in:
- Psychiatry & Clinical Neurosciences Reports, 2023, v. 2, n. 4, p. 1, doi. 10.1002/pcn5.157
- By:
- Publication type:
- Article
Severe Acute Respiratory Syndrome Coronavirus 2 Omicron Variant Kinetics in Natural Infection: A Case Study.
- Published in:
- Turkish Journal of Internal Medicine, 2024, v. 6, n. 1, p. 69, doi. 10.46310/tjim.1352394
- By:
- 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
- By:
- Publication type:
- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
- By:
- Publication type:
- Article
A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00291-y
- By:
- 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
- By:
- Publication type:
- Article
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00210-z
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 1, p. 119, doi. 10.3390/diagnostics14010119
- By:
- Publication type:
- Article
Successful living‐donor liver transplantation for neonatal hemochromatosis due to transient abnormal myelopoiesis with Down syndrome: Case report and review of the literature.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31228
- By:
- 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
- By:
- Publication type:
- Article
Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 10, p. 1400, doi. 10.1007/s00247-013-2661-x
- By:
- Publication type:
- Article
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
- Published in:
- Human Genetics, 2014, v. 133, n. 2, p. 225, doi. 10.1007/s00439-013-1372-6
- By:
- Publication type:
- Article
Probiotics Prevents Sensitization to Oral Antigen and Subsequent Increases in Intestinal Tight Junction Permeability in Juvenile–Young Adult Rats.
- Published in:
- Microorganisms, 2019, v. 7, n. 10, p. 463, doi. 10.3390/microorganisms7100463
- By:
- Publication type:
- Article
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Survey on children with cerebral palsy in Tochigi Prefecture, Japan.
- Published in:
- Pediatrics International, 2021, v. 63, n. 8, p. 951, doi. 10.1111/ped.14536
- By:
- Publication type:
- Article
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. 324, doi. 10.1111/ped.12613
- By:
- Publication type:
- Article
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study.
- Published in:
- Acta Radiologica, 2012, v. 53, n. 2, p. 223, doi. 10.1258/ar.2011.110339
- By:
- Publication type:
- Article
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.
- Published in:
- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac304
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00165-7
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
HIF2α-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 13, p. 5389, doi. 10.1093/nar/gks201
- By:
- Publication type:
- Article
HIF2α-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 12, p. 5389, doi. 10.1093/nar/gks201
- By:
- Publication type:
- Article
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181791
- By:
- Publication type:
- Article
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 ( SRGAP2).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 199, doi. 10.1002/ajmg.a.34363
- By:
- Publication type:
- Article