Relevant bibliographies by topics / Neurogenetic syndrome

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Neurogenetic syndrome'

Author: Grafiati
Published: 10 December 2022
Last updated: 31 July 2025

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Journal articles on the topic "Neurogenetic syndrome"

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Harrop, Clare, Aaron R. Dallman, Luc Lecavalier, James W. Bodfish, and Brian A. Boyd. "Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome." American Journal on Intellectual and Developmental Disabilities 126, no. 5 (2021): 409–20. http://dx.doi.org/10.1352/1944-7558-126.5.409.

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Abstract Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral Inflexibility Scale (BIS) via an online survey. Total BIS scores were higher in FXS+ASD than both FXS only and DS (p <.001). Most endorsed items were similar across the three groups, but scores were higher in the FXS+ASD group. In all groups, BI
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Duis, Jessica. "The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome." American Journal on Intellectual and Developmental Disabilities 127, no. 2 (2022): 95–98. http://dx.doi.org/10.1352/1944-7558-127.2.95.

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Abstract Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in
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Siniša, Franjić. "Angelman Syndrome is a Rare Neurogenetic Disorder." World Journal of Health and Medicine 3, no. 1 (2025): 09–14. https://doi.org/10.5281/zenodo.14917033.

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<strong>Abstract</strong> Angelman syndrome is a genetic disorder that causes formative delays and neurological issues &ndash; challenges with discourse, adjust and strolling, and in some cases, epileptic seizures. It is caused by a transformation in chromosome 15 acquired from the mother. It is named after Dr. Harry Angelman, a British pediatrician who to begin with depicted the syndrome in 1965. Angelman syndrome is ordinarily not found until guardians start to take note formative delays when the child is between 6 and 12 months old. &nbsp; <strong>Keywords:</strong> AS, Genes, Imbalances, B
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Coppus, Antonia M. W. "Neurogenetic Syndrome: Behavioral Issues and Their Treatment." Journal of Policy and Practice in Intellectual Disabilities 8, no. 2 (2011): 139–40. http://dx.doi.org/10.1111/j.1741-1130.2011.00299.x.

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Fussiger, Helena, José Luiz Pedroso, and Jonas Alex Morales Saute. "Diagnostic reasoning in neurogenetics: a general approach." Arquivos de Neuro-Psiquiatria 80, no. 09 (2022): 944–52. http://dx.doi.org/10.1055/s-0042-1755275.

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AbstractEstablishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneu
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Buiting, Karin, Charles Williams, and Bernhard Horsthemke. "Angelman syndrome — insights into a rare neurogenetic disorder." Nature Reviews Neurology 12, no. 10 (2016): 584–93. http://dx.doi.org/10.1038/nrneurol.2016.133.

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Walter, E., P. K. Mazaika, and A. L. Reiss. "Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome." Neuroscience 164, no. 1 (2009): 257–71. http://dx.doi.org/10.1016/j.neuroscience.2009.04.033.

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Andrews, Sara M., Anita A. Panjwani, Sarah Nelson Potter, Lisa R. Hamrick, Anne C. Wheeler, and Bridgette L. Kelleher. "Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions." American Journal on Intellectual and Developmental Disabilities 129, no. 3 (2024): 175–90. http://dx.doi.org/10.1352/1944-7558-129.3.175.

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Abstract Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4–8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores
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Andelman‐Gur, Michal M., Richard J. Leventer, Mohammad Hujirat, et al. "Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?" American Journal of Medical Genetics Part A 182, no. 10 (2020): 2207–13. http://dx.doi.org/10.1002/ajmg.a.61795.

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Zampatti, Stefania, Juliette Farro, Cristina Peconi, et al. "AI-Powered Neurogenetics: Supporting Patient’s Evaluation with Chatbot." Genes 16, no. 1 (2024): 29. https://doi.org/10.3390/genes16010029.

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Background/Objectives: Artificial intelligence and large language models like ChatGPT and Google’s Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini’s potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders. Methods: By analyzing the model’s performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a
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Dissertations / Theses on the topic "Neurogenetic syndrome"

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Pierre, Constance. "Conséquences fonctionnelles, comportementales et adaptatives d'une mutation de la MAO (MonoAmine Oxydase) chez le poisson cavernicole aveugle Astyanax mexicanus. A Mutation in Monoamine Oxidase (MAO) Affects the Evolution of Stress Behavior in the Blind Cavefish Astyanax Mexicanus." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASS084.

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Le neurotransmetteur sérotonine contrôle une grande variété de mécanismes physiologiques et comportementaux. Chez les humains, les mutations qui affectent la monoamine oxydase (MAO), l’enzyme qui dégrade la sérotonine, sont hautement délétères. Pourtant, le morphotype cavernicole aveugle de l’espèce Astyanax mexicanus (téléostéens) porte une mutation (P106L) induisant une perte de fonction partielle de cette enzyme, et semble prospérer dans son habitat souterrain naturel. Cette thèse décrit les effets de cette mutation, depuis l’échelle moléculaire à l’échelle des populations, afin de mieux ce
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Fila, Tatiana <1978&gt. "Neurogenesis impairment and cell cycle alterations in Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/990/1/Tesi_Fila_Tatiana.pdf.

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Fila, Tatiana <1978&gt. "Neurogenesis impairment and cell cycle alterations in Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/990/.

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Giacomini, Andrea <1989&gt. "Pharmacotherapies targeted to neurogenesis in order to rescue cognitive performance in Down syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2018. http://amsdottorato.unibo.it/8353/1/Dissertation_Andrea%20Giacomini.pdf.

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Down syndrome (DS) is a genetic condition caused by the triplication of chromosome 21. The most invalidating feature of DS is intellectual disability (ID). Neurogenesis and dendritic maturation impairment are key determinants of ID in DS. To study DS, several mouse models have been created and the most used is the Ts65Dn mouse. Despite intense efforts, there are currently no therapies for DS. Considering the time course of brain development, pharmacotherapies should be carried as early as possible during the lifespan. The goal of this project was to establish whether neonatal treatment with
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Pons, Espinal Meritxell 1986. "Role of DYRK1A in hippocampal neuroplasticity : implications for Down syndrome." Doctoral thesis, Universitat Pompeu Fabra, 2013. http://hdl.handle.net/10803/124485.

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Synaptic connections in the brain respond throughout their lives to the activity of incoming neurons, adjusting their biological properties to increment activity-dependent changes. Hippocampal neuronal plasticity disruptions have been suggested as mechanisms underlying cognitive impairments in Down syndrome (DS). However, it remains unknown whether specific candidate genes are implicated in these phenotypes in the multifactorial context of trisomy 21. DYRK1A is a serine/threonine kinase, which overexpression is sufficient to recapitulate hippocampal learning and memory deficits characteristic
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Bianchi, Patrizia <1979&gt. "Defective neurogenesis in the Ts65Dn mouse, a model for Down syndrome, can be restored by pharmacological treatments." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/3139/1/Bianchi_Patrizia_Tesi.pdf.

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Bianchi, Patrizia <1979&gt. "Defective neurogenesis in the Ts65Dn mouse, a model for Down syndrome, can be restored by pharmacological treatments." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/3139/.

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Xia, Er. "Novel molecular and pharmacological regulators of Neural Stem Cells in physiological and disease mechanisms." Doctoral thesis, Università del Piemonte Orientale, 2019. http://hdl.handle.net/11579/105406.

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Neural Stem Cells (NSC) perform a very important role during brain development as they are involved in the formation of the main neuronal circuitry contributing to the entire brain structural and functional formation. These cells persist even in discrete regions of adult mammalian brain such as the subgranular zone of the dentate gyrus. In the adult hippocampus, NSC and newborn neurons confer an extra degree of neural plasticity, which likely contributes to crucial brain functions such as learning, memory and mood regulation. Alteration in NSC properties, principally proliferation and neuronal
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Modyanova, Nadezhda N. "Semantic and pragmatic language development in typical acquisition, autism spectrum disorders, and Williams syndrome with reference to developmental neurogenetics of the latter." Thesis, Massachusetts Institute of Technology, 2009. http://hdl.handle.net/1721.1/57547.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Brain and Cognitive Sciences, 2009.<br>This electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.<br>Cataloged from student submitted PDF version of thesis.<br>Includes bibliographical references.<br>The elucidation of the biological bases of a complex trait like human language proceeds from identification of precise behavioral phenotypes to investigation of the underlying genes. The human behavioral parts of this dissertation focus on underst
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Vithayathil, Joseph. "Developmental and Post-natal Roles for ERK1/2 Signaling in the Hippocampus." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1435760090.

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Books on the topic "Neurogenetic syndrome"

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K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Paul H. Brookes Pub. Co., 2010.

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K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Paul H. Brookes Pub. Co., 2010.

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K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Paul H. Brookes Pub. Co., 2010.

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Shapiro, Bruce K. Neurogenetic syndromes: Behavioral issues and their treatment. Paul H. Brookes Pub. Co., 2010.

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A, Rondal J., and Perera Juan, eds. Down syndrome: Neurobehavioral specificity. Wiley, 2006.

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E, Davies K., and Tilghman Shirley M, eds. Genome maps and neurological disorders. Cold Spring Harbor Laboratory Press, 1993.

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1946-, Oostra Ben A., ed. Trinucleotide diseases and instability. Springer, 1998.

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Takao, Kumazawa, Kruger Lawrence, and Mizumura Kazue, eds. The polymodal receptor: A gateway to pathological pain. Elsevier, 1996.

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COURTNEY, Albert T. Cbd and Neurogenetic Syndrome: The Absolute Guide on How CBD Works for Neurogenetic Syndrome. Independently Published, 2019.

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Graves, Tracey. Neurogenetic disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.

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There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid
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Book chapters on the topic "Neurogenetic syndrome"

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Cole, David E. C., and Miles D. Thompson. "Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome." In Subcellular Biochemistry. Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-7197-9_16.

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Schöls, L. "Myasthene Syndrome." In Neurogenetik. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_28.

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Rieß, O., L. Schöls, H. Przuntek, and B. Leube. "Extrapyramidal-motorische Syndrome." In Neurogenetik. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_18.

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Schöls, L. "Gilles-de-la-Tourette-Syndrom." In Neurogenetik. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_17.

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Bergner, Amanda. "Overview of Neurocutaneous Syndromes." In Genetic Counseling for Adult Neurogenetic Disease. Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_22.

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Maier, Alice, Nicholas P. Ryan, Anita Chisholm, and Jonathan M. Payne. "Social cognition in autism spectrum disorder and neurogenetic syndromes." In Clinical Disorders of Social Cognition. Routledge, 2021. http://dx.doi.org/10.4324/9781003027034-4.

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Blum, Kenneth, David Han, John Giordano, et al. "Neurogenetics and Nutrigenomics of Reward Deficiency Syndrome (RDS): Stratification of Addiction Risk and Mesolimbic Nutrigenomic Manipulation of Hypodopaminergic Function." In Omics for Personalized Medicine. Springer India, 2013. http://dx.doi.org/10.1007/978-81-322-1184-6_18.

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"Klinefelter Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0006.

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"Williams Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0011.

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"Fragile X Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0007.

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Conference papers on the topic "Neurogenetic syndrome"

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Yildirim, Murat, Danielle Feldman, Tianyu Wang, et al. "Third harmonic generation imaging of intact human cerebral organoids to assess key components of early neurogenesis in Rett Syndrome (Conference Presentation)." In Multiphoton Microscopy in the Biomedical Sciences XVII, edited by Ammasi Periasamy, Peter T. So, Xiaoliang S. Xie, and Karsten König. SPIE, 2017. http://dx.doi.org/10.1117/12.2256182.

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You might also be interested in the extended bibliographies on the topic 'Neurogenetic syndrome' for particular source types:
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