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Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02756-4
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- Publication type:
- Article
Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2023.1294746
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- Publication type:
- Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
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- Publication type:
- Article
Prenatal Alcohol Exposure Impairs the Placenta–Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13484, doi. 10.3390/ijms241713484
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- Publication type:
- Article
In Utero Alcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons.
- Published in:
- eNeuro, 2023, v. 10, n. 4, p. 1, doi. 10.1523/ENEURO.0295-22.2022
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- Publication type:
- Article
Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01378-9
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- Publication type:
- Article
Integrative Metabolomics Reveals Deep Tissue and Systemic Metabolic Remodeling in Glioblastoma.
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- Cancers, 2021, v. 13, n. 20, p. 5157, doi. 10.3390/cancers13205157
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- Publication type:
- Article
Diagnosis and Management of Glioblastoma: A Comprehensive Perspective.
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- Journal of Personalized Medicine, 2021, v. 11, n. 4, p. 258, doi. 10.3390/jpm11040258
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- Publication type:
- Article
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81090-1
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- Publication type:
- Article
Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01057-7
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- Publication type:
- Article
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00917-6
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- Publication type:
- Article
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00929-2
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- Publication type:
- Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
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- Publication type:
- Article
Alcoolisation fœtale: Le placenta au secours du diagnostic précoce des troubles du développement cérébral de l'enfant.
- Published in:
- Médecine Sciences, 2019, v. 35, n. 11, p. 859, doi. 10.1051/medsci/2019167
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- Publication type:
- Article
A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling.
- Published in:
- Analytical & Bioanalytical Chemistry, 2019, v. 411, n. 17, p. 3891, doi. 10.1007/s00216-019-01863-6
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- Publication type:
- Article
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 12, p. 1632, doi. 10.1016/j.jalz.2018.06.3056
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- Publication type:
- Article
Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 4, p. 569, doi. 10.1007/s00401-018-1866-3
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- Publication type:
- Article
Giant epidermoid cyst of the occipital area with bone invasion: A case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
- Published in:
- Acta Neuropathologica, 2017, v. 134, n. 6, p. 889, doi. 10.1007/s00401-017-1748-0
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- Publication type:
- Article
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2522, doi. 10.1002/ajmg.a.38342
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- Publication type:
- Article
PLGF, a placental marker of fetal brain defects after in utero alcohol exposure.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0444-6
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- Publication type:
- Article
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
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- Publication type:
- Article
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
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- Publication type:
- Article
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 5, p. 743, doi. 10.3390/ijms17050743
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- Publication type:
- Article
Amyloid precursor protein controls cholesterol turnover needed for neuronal activity.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 4, p. 608, doi. 10.1002/emmm.201202215
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- Publication type:
- Article
Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 6, p. 952, doi. 10.1002/ana.23699
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- Publication type:
- Article
An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy.
- Published in:
- Case Reports in Neurology, 2011, v. 3, n. 3, p. 294, doi. 10.1159/000335004
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- Publication type:
- Article
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 2, p. 149, doi. 10.1007/s00401-010-0768-9
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- Publication type:
- Article
Posterior fossa solitary fibrous tumour: report of a fetal case and review of the literature.
- Published in:
- 2011
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- Publication type:
- Report
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
- Published in:
- Acta Neuropathologica, 2010, v. 120, n. 4, p. 503, doi. 10.1007/s00401-010-0692-z
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- Publication type:
- Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
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- Publication type:
- Article
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
- Published in:
- 2010
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- Publication type:
- Report
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1175, doi. 10.1002/humu.21016
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- Publication type:
- Article
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
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- Acta Neuropathologica, 2009, v. 117, n. 2, p. 185, doi. 10.1007/s00401-008-0469-9
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- Publication type:
- Article
Prenatal revelation of Niemann–Pick disease type C in siblings.
- Published in:
- Acta Paediatrica, 2008, v. 97, n. 8, p. 1136, doi. 10.1111/j.1651-2227.2008.00829.x
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- Publication type:
- Article
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 846, doi. 10.1002/humu.20520
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- Publication type:
- Article
Prenatal diagnosis of an exceptional intrauterine herpes simplex type 1 infection.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 154, doi. 10.1002/pd.1361
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- Publication type:
- Article
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
- Published in:
- Nature Genetics, 2006, v. 38, n. 1, p. 24, doi. 10.1038/ng1718
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- Publication type:
- Article
Restoration of diaphragmatic function after diaphragm reinnervation by inferior laryngeal nerve; experimental study in rabbits.
- Published in:
- Respiratory Research, 2006, v. 7, p. 17, doi. 10.1186/1465-9921-7-17
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- Publication type:
- Article
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 1979, doi. 10.1093/brain/awh216
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- Publication type:
- Article
Fetal capillary haemangioblastoma: an exceptional tumour. A review of the literature.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 979, doi. 10.1002/pd.452
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- Publication type:
- Article
Glucocorticoid treatment in an ischaemic-like excitotoxic model of periventricular leucomalacia in mice.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2002, v. 109, n. 9, p. 989, doi. 10.1111/j.1471-0528.2002.01202.x
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- Publication type:
- Article
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
- Published in:
- 2002
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- Publication type:
- journal article
Regulation of Neuroprotective Action of Vasoactive Intestinal Peptide in the Murine Developing Brain by Protein Kinase C and Mitogen-Activated Protein Kinase Cascades: In Vivo and In Vitro Studies.
- Published in:
- Journal of Neurochemistry, 1998, v. 70, n. 6, p. 2574, doi. 10.1046/j.1471-4159.1998.70062574.x
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- Publication type:
- Article
Autoradiographic Study of Somatostatin Receptors in the Rat Hypothalamus: Validation of a GTP-Induced Desaturation Procedure.
- Published in:
- Neuroendocrinology, 1988, v. 47, n. 6, p. 533, doi. 10.1159/000124966
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- Publication type:
- Article