Log in

Relevant bibliographies by topics / Neurogenetic syndrome / Dissertations / Theses

To see the other types of publications on this topic, follow the link: Neurogenetic syndrome.

Dissertations / Theses on the topic 'Neurogenetic syndrome'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 24 dissertations / theses for your research on the topic 'Neurogenetic syndrome.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

2

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

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/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

5

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

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/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

9

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

10

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Lunion, 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.

Full text

Abstract:

Le syndrome de Coffin Lowry est une forme syndromique rare de déficience intellectuelle liée au chromosome X. Ce syndrome est dû à des mutations du gène Rsk2 codant la protéine kinase RSK2 dans la voie de signalisation des MAPK/ERK. La caractérisation phénotypique du modèle murin Rsk2-KO a principalement mis en évidence un retard d’acquisition ainsi qu’un déficit de mémoire spatiale à long terme, suggérant une altération des fonctions hippocampiques. Nous avons montré que les souris Rsk2-KO présentent également des déficits dans une forme d’apprentissage et de mémoire mettant en jeu la fonctio

APA, Harvard, Vancouver, ISO, and other styles

12

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.

Full text

Abstract:

In this work we have assessed the possible contribution of the human chromosome-21 gene DYRK1A in the developmental cortical alterations associated with Down Syndrome using the mBACTgDyrk1a mouse, which carries 3 copies of Dyrk1a, and a trisomic model of the syndrome, the Ts65Dn mouse. We show that trisomy of Dyrk1a changes the cell cycle parameters of dorsal telencephalic radial glial (RG) progenitors and the division mode of these progenitors leading to a deficit in glutamatergic neurons that persist until the adulthood. We demonstrate that Dyrk1a is the triplicated gene that causes the defi

APA, Harvard, Vancouver, ISO, and other styles

13

Bernardet, Maude. "Etude des traits autistiques chez un modèle souris du X Fragile." Thesis, Bordeaux 1, 2008. http://www.theses.fr/2008BOR13749/document.

Full text

Abstract:

L’autisme est un trouble envahissant du développement défini uniquement sur des critères comportementaux et l’âge d’apparition. Le X fragile est une pathologie d’origine monogénique dont 15-25% des patients présente le diagnostique complet de l’autisme et dont de nombreux symptômes chevauchent avec l’autisme. Une souris Fmr1 KO a été créée et validée comme modèle pour le X fragile. A l’instar de la variabilité des phénotypes du X fragile chez l’humain, les données préliminaires montrent que la mutation nulle Fmr1 chez la souris interagit avec l'arrière fond génétique. Les travaux présentés vis

APA, Harvard, Vancouver, ISO, and other styles

14

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.

Full text

Abstract:

Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et

APA, Harvard, Vancouver, ISO, and other styles

15

Silva, Ana Paula de Abreu e. "Mutações inativadoras dos genes PROK2 e PROKR2 em pacientes com hipogonadismo hipogonadotrófico isolado." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-18022011-134611/.

Full text

Abstract:

O sistema da procineticina desempenha um papel importante na migração dos neurônios secretores de GnRH e na neurogênese do bulbo olfatório. Camundongos com ablação dos genes que codificam a procineticina 2 (PROK2) e seu receptor (PROKR2) apresentaram fenótipos semelhantes ao da síndrome de Kallmann descrita em humanos. Mutações inativadoras nos genes PROK2 e PROKR2 foram identificadas em pacientes com hipogonadismo hipogonadotrófico isolado. Com base nestes achados, investigamos a presença de alterações estruturais nos genes PROK2 e PROKR2 em 107 pacientes brasileiros (63 com síndrome de Kallm

APA, Harvard, Vancouver, ISO, and other styles

16

Girard, Simon L. "Étude sur le rôle des déséquilibres génomiques dans le Syndrome d’Impatiences Musculaires de l’Éveil." Thèse, 2010. http://hdl.handle.net/1866/4115.

Full text

Abstract:

Le Syndrome d’Impatiences Musculaires de l’Éveil (SIME) est une maladie neurologique caractérisée par un besoin urgent de bouger les jambes. C’est également l’une des causes les plus fréquentes d’insomnie. C’est une maladie très répandue, avec une prévalence de presque 15 % dans la population générale. Les maladies multifactorielles comme le SIME sont souvent le résultat de l’évolution d’une composante génétique et d’une composante environnementale. Dans le cadre du SIME, les études d’association génomique ont permis l’identification de 4 variants à effet modéré ou faible. Cependant, ces quatr

APA, Harvard, Vancouver, ISO, and other styles

17

Hsu, Jui-Hong, and 徐瑞鴻. "Study on the effects of Scn1a mutation (Dravet syndrome) in neurogenesis." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/71846580913041455264.

Full text

Abstract:

碩士<br>國立臺灣大學<br>藥理學研究所<br>103<br>Dravet syndrome is a refractory seizure characterized by severe infant-onset myoclonic epilepsy, delayed psychomotor development and autism-spectrum behaviours. Loss-of-function mutations in Scn1a gene which encodes the type Ⅰvoltage-gated sodium channel (Nav1.1) is the predominant molecular cause in most patients. Children with Dravet syndrome are significantly impaired in visuo-perceptual skill performance, and the spatial memory have been reported close relative to hippocampus neurogenesis. However, the underlying dysfunction of the Scn1a gene might confer t

APA, Harvard, Vancouver, ISO, and other styles

18

Brady, Morgan. "Abnormal neurogenesis and gliogenesis in the developing spinal cord in a mouse model of Down syndrome." Thesis, 2018. https://hdl.handle.net/2144/30912.

Full text

Abstract:

Motor deficits are a hallmark of Down syndrome (DS), yet little is known about their exact cause. Despite the rich understanding of the neurobiology of DS, there is still a lack of targetable mechanisms for early intervention aimed at alleviating motor changes in people with DS. Therefore, we utilized a mouse model of DS known as Ts65Dn to characterize for the first time the effects of trisomy 21 on spinal cord (SC) development. A central molecular player in SC patterning and cell-type specification, Oligodendrocyte transcription factor 2 (Olig2), is located on human chromosome 21 (Hsa21) and

APA, Harvard, Vancouver, ISO, and other styles

19

Rydzyková, Tereza. "Vliv morfinu na neurogenezi a neurodegeneraci v mozku potkana." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-367807.

Full text

Abstract:

Morfin is a clinically used analgesic drug but also an abusive drug. It has an impact on a wide range of CNS regions (nucleus accumbens, ventral tegmentum, hippocampus, etc.) and affects their functions, e.g. cognitive functions or anxiety. Although the results of so far published studies are often contradictory, the effects on cell death and proliferation in the CNS have been demonstrated. In this work, we focused on how chronic administration of morphine and subsequent withdrawal of this drug affects neurogenesis and neurodegeneration in the rat brain and how it affects some markers involved

APA, Harvard, Vancouver, ISO, and other styles

20

Boehme, Fanny. "The effects of voluntary exercise on adult hippocampal neurogenesis and BDNF levels in a rodent model of fetal alcohol spectrum disorders." Thesis, 2010. http://hdl.handle.net/1828/3327.

Full text

Abstract:

Alcohol consumption during pregnancy is detrimental to the developing nervous system of the unborn offspring. The hippocampus, one of the two brain regions where neurogenesis persists into adulthood, is particularly sensitive to the teratogenic effects of alcohol. The present study examined the effects of alcohol exposure throughout all three trimester equivalents on the stages of adult neurogenesis. Prenatal and early postnatal alcohol exposure (PPAE) altered cell proliferation in adult but not adolescent animals and increased early neuronal differentiation without affecting cell survival in

APA, Harvard, Vancouver, ISO, and other styles

21

Kaufman, Liana. "Identification of Non-syndromic Intellectual Disability Genes and Their Overlap with Autism." Thesis, 2011. http://hdl.handle.net/1807/29568.

Full text

Abstract:

Non-syndromic intellectual disability (NS-ID) is a widespread neurodevelopmental disorder in which the major phenotypic manifestation is low IQ. Given the known genetic overlaps between the two conditions, it was hypothesize that autosomal recessive NS-ID (NS-ARID) genes may also play a role in autism. In this thesis, autism probands with CNVs overlapping NS-ARID genes were screened for additional mutations by sequencing. In addition, TRAPPC9 was identified as a novel cause of NS-ARID in two unrelated consanguineous families. TRAPPC9 (NIBP) is believed to function in the NF-kB pathway and the

APA, Harvard, Vancouver, ISO, and other styles

22

Aziz, Nadine M. "Histological, cellular, and molecular abnormalities in forebrain and spinal cord of three distinct mouse models of Down syndrome." Thesis, 2017. https://hdl.handle.net/2144/23413.

Full text

Abstract:

Down syndrome (DS) is a developmental disorder caused by a triplication of human chromosome 21, which contains approximately 550 genes. DS is the most common autosomal aneuploidy occurring with an incidence of 1 in 793 live births. Hallmarks of DS include abnormal central nervous system (CNS) development and function resulting in intellectual disability (ID), motor dysfunction, and early onset Alzheimer’s neuropathology. Studies have elucidated widespread neurohistological abnormalities in brains of fetuses with DS as early as 20 weeks of gestation, suggesting that early dysfunction in neural

APA, Harvard, Vancouver, ISO, and other styles

23

Stringer, Megan Elizabeth. "Effect of Epigallocatechin-3-gallate on a pattern separation task and hippocampal neurogenesis in a mouse model of Down syndrome." Thesis, 2015. http://hdl.handle.net/1805/10037.

Full text

Abstract:

Indiana University-Purdue University Indianapolis (IUPUI)<br>Down syndrome (DS) is caused by three copies of human chromosome 21 (Hsa21) and results in an array of phenotypes including intellectual disability. Ts65Dn mice, the most extensively studied DS model, have three copies of ~50% of the genes on Hsa21 and display many phenotypes associated with DS, including cognitive deficits. DYRK1A is found in three copies in humans with Trisomy 21 and in Ts65Dn mice, and is involved in a number of critical pathways including CNS development and osteoclastogenesis. Epigallocatechin-3-gallate (EGCG)

APA, Harvard, Vancouver, ISO, and other styles

24

Abdulnour, Shahad. "Effect of Dopamine Receptor DRD2 and ANKK1 Polymorphisms on Dietary Compliance, Blood Pressure, and BMI in Type 2 Diabetic Patients." Thesis, 2010. http://hdl.handle.net/1807/25396.

Full text

Abstract:

Reduction in dopamine receptor D2, has been associated with insufficient brain reward, food addiction, obesity, and type 2 diabetes (T2D). Our aim was to assess whether the genetic variability responsible for this reduction is associated with poor dietary compliance and life style habits in T2D patients. Genetic-analysis was done for 109 T2D individuals who completed a 24-week randomized clinical trial and were assigned to follow either a low-GI or a high-fibre diet. Polymorphisms of TaqIA and C957T were compared with physical and biochemical measures. Regardless of dietary treatments, individ

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!