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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
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10715-w
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- Publication type:
- Article
Short Report on DNA Marker at Candidate Locus.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 1, p. 75, doi. 10.1111/j.1399-0004.1997.tb02421.x
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- 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
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
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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.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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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
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x
- By:
- Publication type:
- Article
Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 7, p. e58, doi. 10.1111/j.1528-1167.2011.03064.x
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- Publication type:
- Article
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2397, doi. 10.1111/j.1528-1167.2010.02728.x
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- Publication type:
- Article
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
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- Publication type:
- Article
1p36 deletion syndrome associated with Prader–Willi-like phenotype.
- Published in:
- Pediatrics International, 2010, v. 52, n. 4, p. 547, doi. 10.1111/j.1442-200X.2010.03090.x
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- 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
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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.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
- 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. 13, p. 5389, doi. 10.1093/nar/gks201
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- 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
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
- Published in:
- 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
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
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- Publication type:
- Article
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 203, doi. 10.1002/ajmg.a.35686
- 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
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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.
- Published in:
- Pharmaceutical Research, 2020, v. 37, n. 3, p. 1, doi. 10.1007/s11095-020-2779-0
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- Publication type:
- Article
An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding.
- Published in:
- Journal of Burn Care & Research, 2024, v. 45, n. 3, p. 805, doi. 10.1093/jbcr/irae021
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- 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
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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
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
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- 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
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- 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
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- 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
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
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
- Published in:
- Amino Acids, 2012, v. 43, n. 2, p. 993, doi. 10.1007/s00726-011-1146-1
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- 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
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- Publication type:
- Article
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
- By:
- Publication type:
- 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.
- Published in:
- Thyroid, 2021, v. 31, n. 9, p. 1316, doi. 10.1089/thy.2020.0696
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- Publication type:
- 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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- 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
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
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 19, doi. 10.1002/jmd2.12259
- 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
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
The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 2, p. 405
- 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
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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.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
- 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
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- Publication type:
- 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
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 2, p. 250, doi. 10.1002/ana.22022
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- Publication type:
- Article