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Author Details

Maria T Acosta
National Institutes of Health
2000
66
22
PMIDPaper TitleJournal TitlePublished Year
36709532Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.Mol Genet Metab2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
35171800[Neurodevelopmental disorders: from the laboratory to the classroom].Medicina (B Aires)2022
32815557Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.Dev Med Child Neurol2021
35096477Clinician- and Patient-reported Endpoints in CNS Orphan Drug Clinical Trials: ISCTM Position Paper on Best Practices for Endpoint Selection, Validation, Training, and Standardization.Innov Clin Neurosci2021
34472416Computerized Working Memory Training for Children With Neurofibromatosis Type 1 (NF1): A Pilot Study.J Child Neurol2021
31838937Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.J Atten Disord2021
32617712An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.Childs Nerv Syst2020
32026187Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.Behav Genet2020
30696812ADGRL3 (LPHN3) variants predict substance use disorder.Transl Psychiatry2019
31797581Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.Ann Clin Transl Neurol2019
31603840[Sleep, memory and learning].Medicina (B Aires)2019
31626395Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.Birth Defects Res2019
28891274Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.Genes Chromosomes Cancer2018
30104415Germline and Somatic <i>NF1</i> Alterations Are Linked to Increased HER2 Expression in Breast Cancer.Cancer Prev Res (Phila)2018
30199367[Attention deficit hyperactivity disorder beyond adolescence. Time to think different?]Medicina (B Aires)2018
28605662Computerized cognitive training for children with neurofibromatosis type 1: A pilot resting-state fMRI study.Psychiatry Res Neuroimaging2017
28295312Young adult outcomes in the follow-up of the multimodal treatment study of attention-deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression.J Child Psychol Psychiatry2017
27510231Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale.Atten Defic Hyperact Disord2016
26598068Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate.Mol Psychiatry2016
27760236Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).JAMA Psychiatry2016
27692237An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.Biol Psychiatry2016
27956565Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.Neurology2016
27652281ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study.Mol Genet Genomic Med2016
27144034Neural Plasticity in Obesity and Psychiatric Disorders.Neural Plast2016
25920923Searching for molecular-targeted interventions for NF1 cognitive deficits in the classroom.Dev Med Child Neurol2015
24443315CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.Am J Med Genet A2014
24435762Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.JAMA Ophthalmol2014
23163951Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.Dev Med Child Neurol2013
24107290Challenges of cognitive research in neurofibromatosis type 1.Lancet Neurol2013
23453281Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.Am J Ophthalmol2013
21606926A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.Mol Psychiatry2012
23012086Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls.Atten Defic Hyperact Disord2012
22433254Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1.Neurosci Lett2012
22490768Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations.Pediatr Neurol2012
22083253Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.Acta Neuropathol2012
21615350Isolated seizures in rats do not cause neuronal injury.Acta Neurol Scand2012
21271647Back to the future: proceedings from the 2010 NF Conference.Am J Med Genet A2011
22832519A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome.Transl Psychiatry2011
21779842Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.Atten Defic Hyperact Disord2011
21907886Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study.Pediatr Neurol2011
21365598[Towards an understanding of the molecular mechanisms underlying the pharmacological treatments of attention deficit hyperactivity disorder].Rev Neurol2011
21094952Mental, motor, and language development of toddlers with neurofibromatosis type 1.J Pediatr2011
19951270Arterial spin labeling demonstrates that focal amygdalar glutamatergic agonist infusion leads to rapid diffuse cerebral activation.Acta Neurol Scand2010
20445195Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.J Child Neurol2010
20157310A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.Mol Psychiatry2010
18520958Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions.J Am Acad Child Adolesc Psychiatry2008
17467976Tuning major gene variants conditioning human behavior: the anachronism of ADHD.Curr Opin Genet Dev2007
17347943[Genetic and molecular aspects in attention deficit hyperactivity disorder: the search for the genes involved in clinical diagnosis].Rev Neurol2007
17347941[The neurobiology of learning difficulties: neurofibromatosis type 1 as a model for researching and treating learning disorders].Rev Neurol2007
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Collaborators

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Co-authored papers 16
Brain Tumor Institute, Children's National Hospital
Co-authored papers 15
New York University Grossman School of Medicine
Co-authored papers 14
Murdoch Children's Research Institute
Co-authored papers 9
Co-authored papers 6
Boston Children's Hospital
Co-authored papers 6
Co-authored papers 4
Australian National University
Co-authored papers 3
Johns Hopkins University
Co-authored papers 3
Johns Hopkins University School of Medicine
Co-authored papers 2
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
University of Alabama at Birmingham
Co-authored papers 2
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Indiana University School of Medicine
Co-authored papers 2
National Human Genome Research Institute
Co-authored papers 2
University of Washington
Co-authored papers 2
Co-authored papers 2
Children's Hospital of Philadelphia
Co-authored papers 2
Sidra Medical and Research Center
Co-authored papers 2
Nathan S Kline Institute for Psychiatric Research, USA Child Mind Institute
Co-authored papers 2
Co-authored papers 2
Rare Disease Institute, Children's National Hospital
Co-authored papers 2
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Brain Tumor Institute, Children's National Hospital
Co-authored papers 1
H. Lee Moffitt Cancer Center and Research Institute
Co-authored papers 1
The Translational Genomics Research Institute (TGen)
Co-authored papers 1
Children's National Hospital
Co-authored papers 1
Ann and Robert H. Lurie Children's Hospital of Chicago
Co-authored papers 1