Found: 24
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INTERCEPT H3: a multicenter phase I peptide vaccine trial for the treatment of H3-mutated diffuse midline gliomas.
- Published in:
- Neurological Research & Practice, 2023, v. 5, n. 1, p. 1, doi. 10.1186/s42466-023-00282-4
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- Publication type:
- Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
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- Publication type:
- Article
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 80, doi. 10.1111/cge.14135
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- Publication type:
- Article
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1343, doi. 10.1002/jimd.12436
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- Publication type:
- Article
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 507, doi. 10.1111/cge.13831
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- Publication type:
- Article
Response to trametinib treatment in progressive pediatric low-grade glioma patients.
- Published in:
- Journal of Neuro-Oncology, 2020, v. 149, n. 3, p. 499, doi. 10.1007/s11060-020-03640-3
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- Publication type:
- Article
INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies.
- Published in:
- 2020
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- Publication type:
- journal article
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4
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- Publication type:
- Article
Prevalence of fascicular hyperintensities in peripheral nerves of healthy individuals with regard to cerebral white matter lesions.
- Published in:
- 2019
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- Publication type:
- journal article
Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 117, doi. 10.1002/jimd.12033
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- Publication type:
- Article
ATIM-33. NOA-16: A FIRST-IN-MAN MULTICENTER PHASE I CLINICAL TRIAL OF THE GERMAN NEUROONCOLOGY WORKING GROUP EVALUATING A MUTATION-SPECIFIC PEPTIDE VACCINE TARGETING IDH1R132H IN PATIENTS WITH NEWLY DIAGNOSED MALIGNANT ASTROCYTOMAS.
- Published in:
- Neuro-Oncology, 2018, v. 20, p. vi8, doi. 10.1093/neuonc/noy148.028
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- Publication type:
- Article
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
- Published in:
- 2017
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- Publication type:
- journal article
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
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- Publication type:
- Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7
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- Publication type:
- Article
H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 829, doi. 10.1007/s10545-015-9826-8
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- Publication type:
- Article
Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family.
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- 2014
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- Publication type:
- Case Study
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 5, p. 743, doi. 10.1002/ana.22095
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- Publication type:
- Article
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1764, doi. 10.1093/brain/awp112
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- Publication type:
- Article
Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features.
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- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1596, doi. 10.1111/j.1528-1167.2008.01877.x
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- Publication type:
- Article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
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- Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
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- Publication type:
- Article
Quantitative single-voxel spectroscopy: The reciprocity principle for receive-only head coils.
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- Journal of Magnetic Resonance Imaging, 2005, v. 21, n. 1, p. 66, doi. 10.1002/jmri.20236
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- Publication type:
- Article
Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, n. 8, p. 568, doi. 10.1017/S0012162203001038
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- Publication type:
- Article
Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?
- Published in:
- 2003
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- Publication type:
- journal article
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 248
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- Publication type:
- Article