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Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome.
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- EMBO Molecular Medicine, 2021, v. 13, n. 3, p. 1, doi. 10.15252/emmm.202013545
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- Article
Detection of TDP‐43 seeding activity in the olfactory mucosa from patients with frontotemporal dementia.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 2, p. 1156, doi. 10.1002/alz.13541
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- Article
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
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- Epilepsia (Series 4), 2014, v. 55, n. 11, p. 1748, doi. 10.1111/epi.12803
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- Article
Absence seizures in the first 3 years of life: An electroclinical study of 46 cases.
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- Epilepsia (Series 4), 2011, v. 52, n. 2, p. 393, doi. 10.1111/j.1528-1167.2010.02926.x
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- Article
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients.
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- Epilepsia (Series 4), 2011, v. 52, n. 2, p. 386, doi. 10.1111/j.1528-1167.2010.02925.x
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- Article
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2010, v. 51, n. 4, p. 647, doi. 10.1111/j.1528-1167.2009.02308.x
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- Article
Temporal Lobe Epilepsy in Children: Electroclinical Study of 77 Cases.
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- Epilepsia (Series 4), 2006, v. 47, p. 26, doi. 10.1111/j.1528-1167.2006.00873.x
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- Article
Benign Myoclonic Epilepsy in Infancy (BMEI): A Longitudinal Electroclinical Study of 22 Cases.
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- Epilepsia (Series 4), 2006, v. 47, p. 31, doi. 10.1111/j.1528-1167.2006.00874.x
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- Article
Status Epilepticus in Benign Rolandic Epilepsy Manifesting as Anterior Operculum Syndrome.
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- Epilepsia (Series 4), 1991, v. 32, n. 3, p. 329, doi. 10.1111/j.1528-1157.1991.tb04659.x
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- Article
Gene Modification and Three‐Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration Approaches.
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- Stem Cells Translational Medicine, 2019, v. 8, n. 10, p. 1107, doi. 10.1002/sctm.18-0218
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- Article
Mesenchymal Stromal Cell‐Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl‐Deficient Osteopetrosis.
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- Stem Cells Translational Medicine, 2019, v. 8, n. 1, p. 22, doi. 10.1002/sctm.18-0085
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- Article
Imaging and micro-invasive analyses of black stains on the passepartout of Codex Atlanticus Folio 843 by Leonardo da Vinci.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31129-2
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- Article
The role of early attachment experiences in modulating defensive peripersonal space.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30985-2
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- Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
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- Article
Osteopetrosis rescue upon RANKL administration to Rankl<sup>− /−</sup> mice: A new therapy for human RANKL-dependent ARO.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 12, p. 2501, doi. 10.1002/jbmr.1712
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Article
Development of Central Nervous System Autoimmunity Is Impaired in the Absence of Wiskott-Aldrich Syndrome Protein.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086942
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- Article
Psychophysiological and Neurophysiological Correlates of Dropping Objects from Hands in Carpal Tunnel Syndrome.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 11, p. 1576, doi. 10.3390/brainsci13111576
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- Article
Morphometric Analysis of Brain in Newborn with Congenital Diaphragmatic Hernia.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 4, p. 455, doi. 10.3390/brainsci11040455
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- Article
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00447
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- Article
Correction of Murine Rag2 Severe Combined Immunodeficiency by Lentiviral Gene Therapy Using a Codon-optimized RAG2 Therapeutic Transgene.
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- Molecular Therapy, 2012, v. 20, n. 10, p. 1968, doi. 10.1038/mt.2012.110
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- Article
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1268620
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- Article
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults.
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- Epilepsia (Series 4), 2020, v. 60, p. S49, doi. 10.1111/epi.16297
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- Article
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults.
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- Epilepsia (Series 4), 2019, v. 60, n. 3, p. S49, doi. 10.1111/epi.16297
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- Article
TREM2 sustains microglial expansion during aging and response to demyelination.
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- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2161, doi. 10.1172/JCI77983
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- Article
Emotion Processing in Peripheral Neuropathic Pain: An Observational Study.
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- Medical Sciences, 2024, v. 12, n. 2, p. 27, doi. 10.3390/medsci12020027
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- Article
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.669943
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- Article
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.669893
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- Article
Contact Sensitization in Children: A Retrospective Study of 2,614 Children from a Single Center.
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- Pediatric Dermatology, 2016, v. 33, n. 4, p. 399, doi. 10.1111/pde.12873
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- Article
Central Obesity in Children with Psoriasis.
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- Acta Dermato-Venereologica, 2018, v. 98, n. 2, p. 282, doi. 10.2340/00015555-2816
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- Article
Adaptive behaviour in adolescents and adults with Dravet syndrome.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 6, p. 838, doi. 10.1111/dmcn.15448
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- Article
eStroop: Implementation, Standardization, and Systematic Comparison of a New Voice-Key Version of the Traditional Stroop Task.
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- Frontiers in Psychology, 2021, v. 12, p. 1, doi. 10.3389/fpsyg.2021.663786
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- Article
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells.
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- Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00490
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- Article
Localised pseudoepitheliomatous hyperplasia: unusual cutaneous reaction pattern to tattoo.
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- International Wound Journal, 2016, v. 13, n. 2, p. 294, doi. 10.1111/iwj.12256
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- Article
Migrating Focal Seizures in Infancy: Analysis of the Electroclinical Patterns in 17 Patients.
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- Journal of Child Neurology, 2008, v. 23, n. 5, p. 497, doi. 10.1177/0883073807309771
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- Article
Patch test results in children and adolescents across Europe. Analysis of the ESSCA Network.
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- Pediatric Allergy & Immunology, 2015, v. 26, n. 5, p. 446, doi. 10.1111/pai.12397
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- Article
Correction: Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson's disease.
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- 2022
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- Correction Notice
Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson's disease.
- Published in:
- Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00311-3
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- Publication type:
- Article
Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson's disease.
- Published in:
- Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00311-3
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- Publication type:
- Article
Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson's disease.
- Published in:
- Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00311-3
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- Publication type:
- Article
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2011.00015
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- Article
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1288045
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- Article
The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS).
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 17, p. 3440, doi. 10.1093/hmg/ddq257
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- Article
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis†.
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- Human Molecular Genetics, 2009, v. 18, n. 1, p. 82, doi. 10.1093/hmg/ddn319
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- Article
Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning.
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- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1450349
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- Article
The relationship between alexithymia, sensory phenotype and neurophysiological parameters in patients with chronic upper limb neuropathy.
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- Journal of Neural Transmission, 2021, v. 128, n. 1, p. 61, doi. 10.1007/s00702-020-02282-z
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- Article