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Статті в журналах з теми "Neurogenetic syndrome"
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 (August 24, 2021): 409–20. http://dx.doi.org/10.1352/1944-7558-126.5.409.
Повний текст джерелаDuis, Jessica. "The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome." American Journal on Intellectual and Developmental Disabilities 127, no. 2 (February 18, 2022): 95–98. http://dx.doi.org/10.1352/1944-7558-127.2.95.
Повний текст джерелаCoppus, Antonia M. W. "Neurogenetic Syndrome: Behavioral Issues and Their Treatment." Journal of Policy and Practice in Intellectual Disabilities 8, no. 2 (June 2011): 139–40. http://dx.doi.org/10.1111/j.1741-1130.2011.00299.x.
Повний текст джерелаBuiting, Karin, Charles Williams, and Bernhard Horsthemke. "Angelman syndrome — insights into a rare neurogenetic disorder." Nature Reviews Neurology 12, no. 10 (September 12, 2016): 584–93. http://dx.doi.org/10.1038/nrneurol.2016.133.
Повний текст джерелаWalter, 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 (November 2009): 257–71. http://dx.doi.org/10.1016/j.neuroscience.2009.04.033.
Повний текст джерелаFussiger, Helena, José Luiz Pedroso, and Jonas Alex Morales Saute. "Diagnostic reasoning in neurogenetics: a general approach." Arquivos de Neuro-Psiquiatria 80, no. 09 (September 2022): 944–52. http://dx.doi.org/10.1055/s-0042-1755275.
Повний текст джерелаAndelman‐Gur, Michal M., Richard J. Leventer, Mohammad Hujirat, Christos Ganos, Keren Yosovich, Nirit Carmi, Dorit Lev, et al. "Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?" American Journal of Medical Genetics Part A 182, no. 10 (August 17, 2020): 2207–13. http://dx.doi.org/10.1002/ajmg.a.61795.
Повний текст джерелаGorchkhanova, Z. K., E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, and E. D. Belousova. "Difficulties in the differential diagnosis of Angelman’s syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, no. 6 (January 8, 2023): 113–22. http://dx.doi.org/10.21508/1027-4065-2022-67-6-113-122.
Повний текст джерелаKomissarova, O. A., O. A. Milovanova, G. G. Avakyan, and S. V. Bugriy. "Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases." Epilepsy and paroxysmal conditions 12, no. 1 (April 16, 2020): 51–58. http://dx.doi.org/10.17749/2077-8333.2020.12.1.51-58.
Повний текст джерелаGipson, Tanjala T., and Michael V. Johnston. "Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/486402.
Повний текст джерелаДисертації з теми "Neurogenetic syndrome"
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.
Повний текст джерелаThe neurotransmitter serotonin controls a great variety of physiological and behavioral processes. In humans, mutations affecting the monoamine oxidase or MAO, the serotonin-degrading enzyme, are highly deleterious. Yet, blind cavefish of the species A. mexicanus carry a partial loss-of-function mutation in MAO (P106L) and seem to thrive in their subterranean environ-ment. This thesis describes the effects of this mutation, from the molecular level to the population level, in order to decipher the exact contribution of mao P106L in the evolution of cavefish neuro-behavioral traits, during their adaptation to the cave environment.In a first paper, we established 4 fish lines, corresponding to the blind cave-dwelling and the sighted river-dwelling morphs of this species, with or without the mutation. We found that mao P106L strongly affected anxiety-like behaviors. Cortisol measurements showed lower basal levels and an increased amplitude of stress response after a change of environment in fish carrying the mutation. Finally, we studied the distribution of the P106L mao allele in wild populations of cave and river A. mexicanus, and discovered that the mutant allele was present – and sometimes fixed - in all populations inhabiting caves of the Sierra de El Abra. The possibility that this partial loss-of-function mao allele evolves under a selective or a genetic drift regime in the particular cave environment is discussed.In a second paper, we assessed the structural and biochemical consequences of the mutation. We found that the reduction of enzymatic activity of mutant MAO is probably caused by a decrease of flexibility in one of the three loops forming the entrance of the active site, thus reducing the access of substrates. HPLC measurements in brains of mutant and non-mutant larvae and adult fish showed major disturbances in serotonin, dopamine and noradrenalin (and metabolites) contents, demonstrating that the P106L mao mutation is fully responsible for monoaminergic disequilibrium in the cavefish brain. We also discovered that the effects of the mutation were partially compensated by a decrease in activity of the TPH, the serotonin biosynthesis rate-limiting enzyme. Our results shade light on the specificities of fish monoaminergic systems.Finally in order to aggravate the MAO inhibition, we generated the first fish knockout MAO mutant. The KO homozygous mutants were stunted and died during the first weeks of development. Contrary to the dopaminergic system which seemed normal in the KO homozygous mutants, the serotonergic system was strongly impaired; no serotonin positive neuron was detected in the hypothalamus
Fila, Tatiana <1978>. "Neurogenesis impairment and cell cycle alterations in Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/990/.
Повний текст джерелаPons, 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.
Повний текст джерелаLes connexions sinàptiques tenen la capacitat de respondre a l’activitat de neurones ajustant les seves propietats biològiques per incrementar els canvis activitat-depenents. Alteracions en la plasticitat neuronal de l’hipocamp s'han suggerit com a mecanismes subjacents als deterioraments cognitius característics en la síndrome de Down (SD). No obstant, es desconeix quins gens específics estan implicats en aquests fenotips en el context de la trisomia del cromosoma 21. DYRK1A és una serina / treonina quinasa, que quan es troba sobreexpressada recapitula el dèficit d'aprenentatge i de memòria depenent de l'hipocamp característic de la SD. En aquesta tesi, s’han estudiat els efectes de la sobreexpressió de DYRK1A en la plasticitat activitat-dependent de l’hipocamp. Hem descobert que ratolins transgènics amb sobreexpressió de Dyrk1A (TgDyrk1A) presenten alteracions morfològiques en les regions CA1 i CA3 de l'hipocamp, una limitació estructural en les connexions neuronals que és rellevant per entendre la relació entre estructura i funció. A més, hem trobat una reducció en la LTP possiblement deguda als canvis en la connectivitat i ocupació dendrítica. L’excitabilitat de les dendrites i la morfologia neuronal són factors determinants de l'eficàcia sinàptica i per tant poden contribuir als dèficits d'aprenentatge i la memòria de l'hipocamp detectats. Hem demostrat defectes importants en la neurogènesi adulta en el gir dentat incloent una reduïda taxa de proliferació cel·lular, alteracions en el cicle cel·lular i reducció de cèl·lules que surten del cicle cel·lular que condueix a una migració precoç de les noves cèl·lules generades i una reducció de la supervivència. D'altra banda, en ratolins TgDyrk1A hi ha menys proporció de neurones generades de novo que s'activen amb l'aprenentatge, indicant una menor integració d’aquestes en els circuits implicats en l'aprenentatge. Algunes d'aquestes alteracions han estat rescatades per la normalització de DYRK1A quinasa utilitzant un inhibidor de DYRK1A, epigallocatechin-3-gallate. L'estimulació del medi ambient també normalitza la sobreexpressió de DYRK1A quinasa en l'hipocamp, i rescata la morfologia, la plasticitat sinàptica i les alteracions en la neurogènesi adulta en ratolins TgDyrk1A. Arribem a la conclusió que Dyrk1A és un bon gen candidat per explicar els dèficits de plasticitat neuronal en la SD i que tractant l’excés d'activitat de la quinasa DYRK1A farmacològicament o mitjançant l'estimulació ambiental en l'adult podria corregir aquests defectes en la SD.
Bianchi, Patrizia <1979>. "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/.
Повний текст джерелаModyanova, 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.
Повний текст джерелаThis electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.
Cataloged from student submitted PDF version of thesis.
Includes bibliographical references.
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 understanding the reasons for children's overuse of definite article 'the', to refer to one of several objects in a context set, as opposed to the unique established referent. Competing theories argue the deficit is either in children's semantic computational knowledge (of uniqueness/maximality), or in their pragmatic/social awareness/theory-of-mind development. Experiments in this dissertation focused on children's comprehension and interpretation of the indefinite and definite determiners, as well as 'that', anaphors 'another' and 'same', and free relative clauses. The results in this thesis suggest that in typically developing (TD) children the late acquisition of determiner 'the' is due to the late maturation of the semantic principle of maximality. Children with autism spectrum disorders (ASD) and with Williams syndrome (WS) either manifested an adult-like competence, an absence of manifestation of knowledge, or a pattern found in TD younger children (where 'that' is understood better than 'the' as referring to the salient unique referent) -- indicating delay of development of the language faculty, but no deviance. This suggests that the observed deficits in ASD and WS pattern with those in TD, and hence are also semantic in nature. The mouse neurogenetic part of this dissertation investigates whether the GTF2I family of genes, causal to WS behavioral phenotype, also contributes to WS cortical development.
(cont.) By overexpression of Gtf2i and Gtf2ird1 in the mouse neocortex via in utero electroporation, their effects on laminar patterning and cell morphogenesis during brain development are characterized. The present results suggest that these genes can synergistically contribute to the abnormal neocortical development in WS, and thereby could contribute to language deficits in WS. Beyond posing an explanatory challenge to linguistic theories, the research comparing typical and atypical development sheds light on the mechanisms of language development and impairment, and provides endophenotypic descriptions of ASD and WS, which are crucial for elucidating not only genetics of neurodevelopmental disorders, but also the genetic basis of the human language faculty.
by Nadezhda N. Modyanova.
Ph.D.
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.
Повний текст джерелаLunion, Steeve. "Enrichissement environnemental, performances cognitives et neurogenèse hippocampique adulte chez un modèle murin du syndrome de Coffin-Lowry." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T034/document.
Повний текст джерелаThe Coffin-Lowry Syndrome is a rare syndromic form of X-linked intellectual disability. This syndrome is caused by mutations of the Rsk2 gene that encodes a protein kinase, RSK2, in the MAPK/ERK signaling pathway. Characterization of the behavioural phenotype of Rsk2-KO mice mainly showed that they display delayed acquisition and long-term deficits in a spatial reference memory task, suggesting an alteration in hippocampal function. Here, we show that Rsk2-KO mice are also deficient in a learning and memory task that involves dentate gyrus-dependent pattern separation function. Several studies showed the formation of new neurons in the adult dentate gyrus by neurogenesis is a form of plasticity that plays a significant role in hippocampal-dependent learning and memory, in particular for spatial learning and memory and pattern separation. As these functions are altered in Rsk2-KO mice, we studied hippocampal adult neurogenesis in these mice. No difference in proliferation, survival and maturation of newborn neurons was found in the dentate gyrus of the mutant mice in basal conditions, nor after a pattern separation task. However, we found a deficit in the survival of newborn cells in Rsk2-KO mice submitted to spatial learning and memory in the Morris water maze task. According to several studies, environmental enrichment in rodents has beneficial effects on cognitive performance and is associated with an enhancement of adult hippocampal neurogenesis. Thus, we assessed the potential effect of environmental enrichment on spatial learning and memory performance and adult hippocampal neurogenesis in Rsk2-KO mice. Our results show that an environmental enrichment protocol of 3h per day during 24 days can rescue or ameliorate spatial learning and memory performance and pattern separation function in Rsk2-KO mice and increase adult hippocampal neurogenesis
Najas, Sales Sònia 1985. "Role of DYRK1A in the development of the cerebral cortex : Implication in Down Syndrome." Doctoral thesis, Universitat Pompeu Fabra, 2014. http://hdl.handle.net/10803/380895.
Повний текст джерелаEn aquest treball s'ha avaluat la possible contribució del gen DYRK1A, localitzat en el cromosoma humà 21, en les alteracions del desenvolupament de l’escorça cerebral associades a la Síndrome de down (SD) mitjançant l’estudi de dos models murins: el ratolí mBACTgDyrk1a, el qual conté 3 còpies de Dyrk1a, i el ratolí Ts65Dn, un dels models trisòmics de la SD més ben caracteritzats. Els nostres resultats mostren que la trisomia de Dyrk1A altera alguns paràmetres del cicle cel•lular i el tipus de divisió dels progenitors neurals del telencèfal dorsal, donant lloc a un dèficit de neurones glutamatèrgiques que persisteix fins l’edat adulta. Hem demostrat que Dyrk1a és el gen triplicat responsable del dèficit inicial en la generació de neurones glutamatèrgiques corticals observat en el ratolí Ts65Dn. A més a més, hem proporcionat evidències de que la degradació de Ciclina D1 induïda per DYRK1A és el mecanisme molecular subjacent a les alteracions de cicle cel•lular observades en els progenitors neuronals dels embrions mBACTgDyrk1a i Ts65Dn. Per altra banda, hem demostrat que la neurogènesis inicial està incrementada en l’eminència ganglionar medial dels embrions mBACTgDyrk1a, fet que altera la proporció de subtipus específics d’interneurones GABAèrgiques en l’escorça cerebral adulta. En conclusió, els nostres resultats indiquen que la sobreexpressió de DYRK1A contribueix significativament a la formació dels circuits cortical en la SD.
Bernardet, Maude. "Etude des traits autistiques chez un modèle souris du X Fragile." Thesis, Bordeaux 1, 2008. http://www.theses.fr/2008BOR13749/document.
Повний текст джерелаAutism is a pervasive developmental disorder defined by behavioural criteria and age of onset. Fragile X is a disorder due to the silencing of the Fmr1 gene. About 15-25% of Fragile X patients are diagnosed as autistic and many symptoms overlap between the two disorders. A mouse Fmr1 KO was created and validated as a model for Fragile X Syndrome. Preliminary data also show that the null mutation interacts with the genetic background. The work presented in this thesis aimed to determine the autistic features expressed in Fmr1 KO mice, as well as the influence of the genetic background (C57BL/6J and FVB.129P2tm1Cgr/J strains, and their reciprocal hybrids) on the expression of the Fmr1 mutation. Our results show an initial inhibition of social approach in Fmr1 KO mice and a qualitative alteration of ultrasonic vocalizations in isolated pups, as well as an increase in activity, especially during the diurnal period. The Fmr1 mutation interacts with the genetic background and the results indicate that KO on the FVB.129P2tm1Cgr/J background show the most marked phenotype
Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.
Повний текст джерелаMalformations of cortical development (MCD) are a major cause of intellectual disability and drug-resistant epilepsy. Next Generation Sequencing (NGS) has considerably improved the identification of the molecular basis of non-syndromic MCD. However, certain forms, including complex MCD, remain unexplained. My PhD project aimed to improve the understanding of complex MCD using two disorders: Microlissencephaly (MLIS) and Aicardi Syndrome (AIC), the latter associating brain and eye malformations and only reported in girls. Trio Whole Exome Sequencing (WES) performed in 16 MLIS families allowed me to identify and functionally characterize a new MLIS gene, WDR81, in which mutations lead to cell cycle alteration. Moreover, using the same strategy, I was able to identify a pathogenic homozygous variant in TLE1 in a patient from consanguineous family with a postnatal microcephaly, suggestive of a FOXG1-like presentation. Interestingly, TLE1 is a major partner of FOXG1, a gene involved in maintaining the balance between progenitor proliferation and differentiation. In parallel, my work allowed me to redefine the phenotypic spectrum associated with RTTN, EPG5, COL4A1 and COL4A2, TBR1, KIF5C, KIF2A and FOXG1. The second part of my PhD program was aimed at identifying the genetic basis of AIC in an international cohort of 19 patients. After excluding a skewed X chromosome inactivation and the presence of chromosomal rearrangements, I performed WES in trios. The analysis of the data from WES did not allow me to identify any recurrent variants. I therefore tested a new approach combining Whole Genome Sequencing (WGS) and RNA-Sequencing (RNA-Seq) on fibroblast cells. I identified a number of deregulated transcripts implicated in brain and eye development. I compared the results of this analysis with the WGS analysis in order to find variants in these candidate genes. In conclusion, these studies have improved the knowledge of the molecular basis of complex MCD, such as TLE1 in postnatal microcephaly, and revealed the pathogenic mechanisms such as WDR81 in cell cycle progression and EPG5 in endosomes and autophagy. My work has also generated a collection of NGS data (WES, WGS and RNA-Seq) that will be shared in an international consortium to develop new analytical strategies, in particular for the non-coding DNA regions. This novel strategy provides opportunities to improve understanding of the cellular mechanisms involved in brain and eye development
Книги з теми "Neurogenetic syndrome"
Shapiro, Bruce K. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.
Знайти повний текст джерелаA, Rondal J., and Perera Juan, eds. Down syndrome: Neurobehavioral specificity. Chichester, England: Wiley, 2006.
Знайти повний текст джерелаTakao, Kumazawa, Kruger Lawrence, and Mizumura Kazue, eds. The polymodal receptor: A gateway to pathological pain. Amsterdam: Elsevier, 1996.
Знайти повний текст джерелаCOURTNEY, Albert T. Cbd and Neurogenetic Syndrome: The Absolute Guide on How CBD Works for Neurogenetic Syndrome. Independently Published, 2019.
Знайти повний текст джерелаGraves, Tracey. Neurogenetic disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.
Повний текст джерелаNeurogenetic syndromes: Behavioral issues and their treatment. Baltimore, Md: Paul H. Brookes Pub. Co., 2010.
Знайти повний текст джерелаK, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore, Md: Paul H. Brookes Pub. Co., 2010.
Знайти повний текст джерелаK, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.
Знайти повний текст джерелаK, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.
Знайти повний текст джерелаPerera, Juan, and Jean-Adolphe Rondal. Down Syndrome. Wiley & Sons, Incorporated, John, 2006.
Знайти повний текст джерелаЧастини книг з теми "Neurogenetic syndrome"
Cole, David E. C., and Miles D. Thompson. "Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome." In Subcellular Biochemistry, 343–61. Dordrecht: Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-7197-9_16.
Повний текст джерелаSchöls, L. "Myasthene Syndrome." In Neurogenetik, 370–74. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_28.
Повний текст джерелаRieß, O., L. Schöls, H. Przuntek, and B. Leube. "Extrapyramidal-motorische Syndrome." In Neurogenetik, 223–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_18.
Повний текст джерелаSchöls, L. "Gilles-de-la-Tourette-Syndrom." In Neurogenetik, 222–23. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_17.
Повний текст джерелаBergner, Amanda. "Overview of Neurocutaneous Syndromes." In Genetic Counseling for Adult Neurogenetic Disease, 273–78. Boston, MA: Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_22.
Повний текст джерелаMaier, 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, 108–44. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003027034-4.
Повний текст джерелаBlum, Kenneth, David Han, John Giordano, Raquel Lohmann, Eric R. Braverman, Margaret A. Madigan, Debmalya Barh, 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, 365–98. New Delhi: Springer India, 2013. http://dx.doi.org/10.1007/978-81-322-1184-6_18.
Повний текст джерела"Klinefelter Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0006.
Повний текст джерела"Williams Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0011.
Повний текст джерела"Fragile X Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0007.
Повний текст джерелаТези доповідей конференцій з теми "Neurogenetic syndrome"
Yildirim, Murat, Danielle Feldman, Tianyu Wang, Dimitre G. Ouzounov, Stephanie Chou, Justin Swaney, Kwanghun Chung, Chris Xu, Peter T. C. So, and Mriganka Sur. "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.
Повний текст джерела