Relevant bibliographies by topics / Mutation cognitive

Contents

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

Academic literature on the topic 'Mutation cognitive'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Mutation cognitive"

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Malek, Naveed, Rimona S. Weil, Catherine Bresner, et al. "Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 7 (2018): 702–9. http://dx.doi.org/10.1136/jnnp-2017-317348.

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ObjectivesTo examine the influence of the glucocerebrosidase (GBA) mutation carrier state on age at onset of Parkinson’s disease (PD), the motor phenotype and cognitive function at baseline assessment in a large cohort of UK patients. We also analysed the prevalence of mood and behavioural problems that may confound the assessment of cognitive function.MethodsWe prospectively recruited patients with PD in the Tracking Parkinson’s study. We fully sequenced the GBA gene in all recently diagnosed patients (≤3.5 years). We examined cognitive (Montreal Cognitive Assessment) and motor (Movement Diso
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Campbell, Alana S., Charlotte C. G. Ho, Merve Atık, et al. "Clinical Deep Phenotyping of ABCA7 Mutation Carriers." Neurology Genetics 8, no. 2 (2022): e655. http://dx.doi.org/10.1212/nxg.0000000000000655.

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Background and ObjectivesPutative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of ABCA7 pLOF mutation carriers from a large retrospectively reviewed series.MethodsGenotypes were determined for 5,353 individuals evaluated at Mayo Clinic for 6 reported ABCA7 pLOF variants (p.E709fs, p.Trp1214X, p.L1403fs, c.4416+2T>G, p.E1679X, and c.5570+5G>C). Medical records of 100 mutation carriers were reviewed for
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Neidigk, Daniel, Allie Linkous, and Rodney Guttmann. "Identifying genetic factors that increase cognitive reserve: A theoretical approach." Research Ideas and Outcomes 9 (August 11, 2023): e107939. https://doi.org/10.3897/rio.9.e107939.

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Studies have demonstrated that some individuals display pathological hallmarks of Alzheimer's disease (AD) but are not afflicted with cognitive decline. The ability to maintain cognitive function despite the presence of pathology is referred to as cognitive reserve. This project aims to identify the molecular pathways involved in cognitive reserve using <i>Drosophila melanogaster</i> (<i>Drosophila</i>) models of AD. Specifically, a theoretical approach using experimental evolution to drive a population of AD-like <i>Drosophila</i> carrying a tau mutation to develop cognitive reserve is propos
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Almkvist, Ove, та Caroline Graff. "The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer’s Disease". Genes 12, № 12 (2021): 1954. http://dx.doi.org/10.3390/genes12121954.

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Mounting evidence shows that the APOE ε4 allele interferes with cognition in sporadic Alzheimer’s disease. Less is known about APOE in autosomal-dominant Alzheimer’s disease (adAD). The present study explored the effects on cognition associated with the gene–gene interactions between the APOE gene and the APP and PSEN1 genes in adAD. This study includes mutation carriers (MC) and non-carriers (NC) from adAD families with mutations in APP (n = 28 and n = 25; MC and NC, respectively) and PSEN1 (n = 12 and n = 15; MC and NC, respectively) that represent the complete spectrum of disease: AD dement
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Mukherjee, Soumava, Manoj Roy, Gautam Guha, and Shankar Prasad Saha. "Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy." Journal of Neurosciences in Rural Practice 09, no. 03 (2018): 410–13. http://dx.doi.org/10.4103/jnrp.jnrp_426_17.

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ABSTRACT Background: Cognitive impairment is commonly seen in patients with Duchenne muscular dystrophy (DMD). Few studies have shown a correlation between loss of different isoforms of the DMD gene and cognitive impairment. Objective: The objective of the study was to determine whether correlation exists in the location of mutation in DMD gene or loss of different isoforms and cognitive impairment in children with DMD in the Indian population. Materials and Methods: Ten children were evaluated. Gene mutation analysis was done by multiplex ligation-dependent probe amplification method. The iso
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Hershkovich, Arielle, Erica F. Weiss, John McGinley, Diana Bronshteyn, David Masur, and Ronda Facchini. "A-278 Neuropsychological Profile of a Child with KCNQ2." Archives of Clinical Neuropsychology 37, no. 6 (2022): 1429. http://dx.doi.org/10.1093/arclin/acac060.278.

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Abstract Objective: The KCNQ2 gene mutations (KCNQ2), a known cause of neuronal potassium channel dysfunction in brain cells, causes susceptibility to seizures beginning within the first days of life. Seizure semiology, severity and cognitive sequela can vary depending on the type of KCNQ2 mutation. Cognitive impact ranges from moderate to severe; no known consistent presentation. KCNQ2 affects approximately 2.8 in 100,000 births: over 3,000 annual cases worldwide. We describe the neuropsychological findings of an 11-year-old female with a monoallelic mutation of the KCNQ2 gene, and history of
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Hallam, Bradley J., Claudia Jacova, Ging-Yuek R. Hsiung, et al. "Early Neuropsychological Characteristics of Progranulin Mutation Carriers." Journal of the International Neuropsychological Society 20, no. 7 (2014): 694–703. http://dx.doi.org/10.1017/s1355617714000551.

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AbstractMutations in the progranulin gene (GRN) are a common cause of familial frontotemporal dementia. We used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in GRN mutation carriers before dementia onset. Twenty-four at-risk members from six families with known GRN mutations underwent detailed neuropsychological testing. Group differences were investigated by domains of attention, language, visuospatial function, verbal memory, non-verbal memory, working memory and executive function. There was a trend for mutation carriers (n=8) t
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Zhang, Kang, Qing Liu, Keqiang Liu, et al. "ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia." Neurology Genetics 4, no. 3 (2018): e237. http://dx.doi.org/10.1212/nxg.0000000000000237.

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ObjectiveTo investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia.MethodsSequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR.ResultsWe identified 6 nonsynonymous heter
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Shiner, Tamara, Anat Mirelman, Yevgenia Rosenblum, et al. "The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews." Journal of Alzheimer's Disease 80, no. 3 (2021): 1221–29. http://dx.doi.org/10.3233/jad-201295.

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Background: Glucocerebrosidase (GBA) gene mutations and APOE polymorphisms are common in dementia with Lewy bodies (DLB), however their clinical impact is only partially elucidated. Objective: To explore the clinical impact of mutations in the GBA gene and APOE polymorphisms separately and in combination, in a cohort of Ashkenazi Jewish (AJ) patients with DLB. Methods: One hundred consecutively recruited AJ patients with clinically diagnosed DLB underwent genotyping for GBA mutations and APOE polymorphisms, and performed cognitive and motor clinical assessments. Results: Thirty-two (32%) patie
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Rasic, Milic V., D. Vojinovic, J. Pesovic, et al. "Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location." Balkan Journal of Medical Genetics 17, no. 2 (2014): 25–35. http://dx.doi.org/10.2478/bjmg-2014-0071.

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Abstract Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All patients had defined DMD gene deletions or duplications [multiplex ligation- dependent probe amplification (MLPA
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Dissertations / Theses on the topic "Mutation cognitive"

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Mehmood, Tahir. "Unraveling molecular, cellular and cognitive defects in the mouse model for mental retardation caused by Rsk2 gene mutation." Phd thesis, Université de Strasbourg, 2012. http://tel.archives-ouvertes.fr/tel-00868704.

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Coffin-Lowry Syndrome (CLS), an X-linked form of intellectual disability, is caused by mutations of the RPS6KA3 gene encoding the growth factor regulated kinase RSK2. To understand the consequences of RSK2 deficiency in the hippocampus we performed a comparison of the hippocampal gene expression profiles from Rsk2-KO and WT mice. It revealed differentialexpression of 100 genes, encoding proteins acting in various biological pathways. We further analyzed the consequences of deregulation of one of these genes, Gria2 encoding GluR2, a subunit of the glutamate AMPAR. An abnormal two-fold increased
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Stum, Morgane. "Vers la compréhension des mécanismes moléculaires et physiopathologiques à l'origine de l'hyperactivité neuromusculaire dans le syndrome de Schwartz-Jampel." Phd thesis, Université Pierre et Marie Curie - Paris VI, 2007. http://tel.archives-ouvertes.fr/tel-00810521.

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Le syndrome de Schwartz-Jampel (SJS) est une pathologie autosomique récessive rare car seulement plus de 100 cas ont été décrits dans la littérature. Elle est caractérisée par une raideur musculaire permanente et généralisée associée à une chondrodystrophie. Elle est due à des mutations perte de fonction dans le gène HSPG2 codant pour le perlecan, un héparane sulfate protéoglycane ubiquitaire présent dans les membranes basales et les matrices extracellulaires. Une autre pathologie, la dysplasie dissegmentaire de type Silvermann-Handmaker (DDSH) est due à des mutations perte de fonction dans ce
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Petzold, Johannes, Emanuel Severus, Shirin Meyer, et al. "Glioblastoma multiforme presenting as postpartum depression: a case report." BioMed Central, 2018. https://tud.qucosa.de/id/qucosa%3A33330.

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Background Alterations of mental status are characteristic of psychiatric disorders but may also result from a multitude of organic causes. Generally, physical examination and blood analysis are a part of basic psychiatric differential diagnostics, whereas more sophisticated procedures (for example, brain imaging) are applied only in cases with pathologic diagnostic findings. Our report challenges this approach by describing a case of glioblastoma multiforme presenting as postpartum depression without abnormalities in basic differential diagnostics. Case presentation A 28-year-old white woman
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Vanoverberke, Philippe. "L'écrit-imprimé, l'image et l'informatique : Formes mentales, culturelles et sociales en mutation." Paris 1, 2009. http://www.theses.fr/2009PA010575.

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Le livre et l'écrit-imprimé sont les marques fidèles de structures mentales et sociales qui reflètent nos intelligences et nos mémoires. L'informatique et l'ordinateur individuel ont bouleversé l'imprimerie, plongé l'art de la typographie dans le domaine public, et imposé l'image au texte. Ces mutations, qui utilisent les formes de l'écrit-imprimé, modifient l'usage du texte et sa lecture. J'ai mis en parallèle ces évolutions matérielles et mentales, enquêté sur les usages, et tenté de relever les modifications de structures cognitives et mémorisantes, avec leurs tendances évolutives.
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Sanabria, Rangel José Mauricio. "Réévaluation de l'approche cognitive du changement stratégique, une étude des mutations des facultés de management colombiennes : 2007-2012." Caen, 2014. http://www.theses.fr/2014CAEN0501.

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Dans cette recherche, on « problématise », au sens d’Alvesson et Sandberg (2011), un espace dans la littérature qu’il est possible d’identifier comme « Approche Cognitive du Changement Stratégique (ACCS) ». Le travail identifie huit suppositions de base de cette approche et les évalue. Pour ce faire, il utilise principalement : 1) la « méthodologie de la problématisation » (Alvesson et Sandberg, 2011) ; 2) un design de recherche interprétativiste ; 3) trois discours (la théorie des parties prenantes, les études critiques en management et les perspectives constructivistes) ; et 4) trois disposi
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Gakovic, Milica. "Etudes fonctionnelles de Tyk2 dans la voie de signalisation de l'IFNα: analyse d'un nouvel interacteur et d'une mutation activatrice". Phd thesis, Université Pierre et Marie Curie - Paris VI, 2007. http://tel.archives-ouvertes.fr/tel-00808013.

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Les récepteurs des cytokines à structure α-hélicoïdale sont pour la plupart composés de deux sous-unités transmembranaires associées aux protéine tyrosine kinases de la famille Janus (Tyk2, Jak1, Jak2 et Jak3). La fixation de la cytokine à son récepteur induit une dimérisation des sous-unités ce qui entraîne l'activation des Jak par transphosphorylation. Les Jaks ainsi activées phosphorylent les facteurs de transcription STAT (Signal Transducer and Activator of Transcription) qui transloquent dans le noyau. Les tyrosine kinases Jak présentent en position N-terminale un domaine FERM (4.1-ezrin-
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Fernandes, Marilyse de Bragança Lopes. "Síndromes de Apert e Crouzon: perfil cognitivo e análise molecular." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/61/61132/tde-05072011-103536/.

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Introdução: As síndromes de Apert (SA) e Crouzon (SC) estão relacionadas a mutações do gene FGFR2. O desenvolvimento cognitivo é variável e está associado à presença de alterações do sistema nervoso central (SNC), idade da descompressão cirúrgica do crânio, estimulação e convivência social, escolarização, institucionalização dos individuos assim como aos aspectos sociais, econômicos, educacionais e a qualidade de vida da família. A influência do tipo de mutação do FGFR2 no desempenho cognitivo é mais um elemento a ser esclarecido para o melhor entendimento do desenvolvimento global dos indivíd
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Pavlowsky, Alice. "Mécanismes physiopathologiques du déficit cognitif associé aux mutations du gène IL-1 receptor accesory protein like-1." Paris 6, 2009. http://www.theses.fr/2009PA066534.

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Les mutations du gène IL1-Receptor Accessory Protein Like 1 (IL1RAPL1) sont associées à un déficit cognitif isolé ou associé à l’autisme. Cette protéine transmembranaire appartient à une nouvelle famille de récepteurs à l’IL-1. Sa structure est similaire à celles de ces récepteurs mais elle possède en plus un domaine cytoplasmique spécifique à son extrémité carboxy-terminale. IL1RAPL1 interagit via cette région avec NCS-1, senseur calcique neuronal impliqué dans la régulation de l’exocytose. En utilisant une lignée de cellules neuroendocrines, nous avons montré que la surexpression d’IL1RAPL1
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Salgueiro, Pereira Ana Rita. "L’effet des crises épileptiques sur les fonctions cognitives et comportementales des modèles murins portant la mutation du gène Scn1a : implication dans le Syndrome de Dravet." Thesis, Université Côte d'Azur (ComUE), 2017. http://www.theses.fr/2017AZUR4019/document.

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Les mutations du gène SCN1A, sont impliquées dans des épilepsies du nourrisson : le Syndrome de Dravet (SD), une épilepsie rare et pharmaco-résistante ou l’Epilepsie généralisée avec crises fébriles plus (GEFS+), une épilepsie plus légère. GEFS+ et SD sont associés à des crises épileptiques fébriles dès l’âge de 6 mois. Dans le SD on voit apparaitre des retards mentaux mais également des déficits moteurs, visuels, langagiers et mnésiques au cours de l’évolution de la maladie. L’impact des crises épileptiques au cours l’enfance sur ces déficits cognitifs n’est pas connu. Le SD est considéré com
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Salgueiro, Pereira Ana Rita. "L’effet des crises épileptiques sur les fonctions cognitives et comportementales des modèles murins portant la mutation du gène Scn1a : implication dans le Syndrome de Dravet." Electronic Thesis or Diss., Université Côte d'Azur (ComUE), 2017. http://theses.univ-cotedazur.fr/2017AZUR4019.

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Les mutations du gène SCN1A, sont impliquées dans des épilepsies du nourrisson : le Syndrome de Dravet (SD), une épilepsie rare et pharmaco-résistante ou l’Epilepsie généralisée avec crises fébriles plus (GEFS+), une épilepsie plus légère. GEFS+ et SD sont associés à des crises épileptiques fébriles dès l’âge de 6 mois. Dans le SD on voit apparaitre des retards mentaux mais également des déficits moteurs, visuels, langagiers et mnésiques au cours de l’évolution de la maladie. L’impact des crises épileptiques au cours l’enfance sur ces déficits cognitifs n’est pas connu. Le SD est considéré com
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Books on the topic "Mutation cognitive"

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Botoyiyê, Geoffroy A. Dominique. Le passage à l'écriture: Mutation culturelle et devenir des savoirs dans une société de l'oralité. Presses universitaires de Rennes, 2010.

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Le Management du troisième millénaire, holistique systémique : Mutation structurelle des systèmes - Métamorphose cognitive des acteurs. Guy Trédaniel éditeur, 1990.

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Lemiere, Jurgen. Huntington's Disease: Early Detection & Progression of Cognitive Changes in Patients & Asymptomatic Mutation Carriers (Acta Biomedica Lovaniensia). Leuven Univ Pr, 2004.

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Walsh, Richard A. Parkinson’s Disease or Essential Tremor? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0016.

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Fragile X-associated tremor ataxia syndrome is a heredodegenerative syndrome that presents in older men as a tremor syndrome with less prominent ataxia and cognitive impairment initially. The underlying genetic cause, a premutation in the FMR1 gene, results in a toxic accumulation of mRNA. The full mutation, a triple-repeat expansion of more than 200 CGG repeats, gives rise to a reduction in FMR1 protein expression and fragile X, a neurodevelopmental disorder that may be identified in successive male generations. The prevalence of carrier status is high in the general population, and it is lik
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Quain, Angela, and Anne M. Comi. Sturge-Weber Syndrome and Related Cerebrovascular Malformation Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0112.

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Sturge-Weber syndrome is a rare disorder presenting with a capillary malformation, better known as a port-wine birthmark, on the upper face, glaucoma, and a leptomeningeal angioma. Most children develop seizures and strokes, with variable degrees of neurodevelopmental impairments including hemiparesis, visual field deficits, cognitive deficits, epilepsy, and migraines. In 2013, a somatic activating mutation in GNAQ was identified in the capillary malformations and leptomeningeal angiomas of Sturge-Weber patients. In the diagnosis of Sturge-Weber syndrome, contrast-enhanced imaging is essential
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Vers un capitalisme cognitif: Entre mutations du travail et territoires. L'Harmattan, 2001.

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Budimirovic, Dejan B., and Megha Subramanian. Neurobiology of Autism and Intellectual Disability. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0052.

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Fragile X syndrome (FXS) is a neurodevelopmental disorder that manifests with a range of cognitive, behavioral, and social impairments. It is a monogenetic disease caused by silencing of the FMR1 gene, in contrast to autism spectrum disorder (ASD) that is a behaviorally-defined set of complex disorders. Because ASD is a major and growing public health concern, current research is focused on identifying common therapeutic targets among patients with different molecular etiologies. Due to the prevalence of ASD in FXS and its shared neurophysiology with ASD, FXS has been extensively studied as a
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Kantor, Martin. Why a Gay Person Can’t Be Made Un-Gay. ABC-CLIO, LLC, 2014. http://dx.doi.org/10.5040/9798216035589.

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Despite an abysmal “success rate,” practitioners still use reparative therapy in an attempt to turn gays and lesbians straight. This text exposes the pitfalls that should be considered before gays embark on this journey that typically leads nowhere. Although homosexuality is becoming less stigmatized in American culture, gays and lesbians still face strong social, familial, financial, or career pressures to “convert” to being heterosexuals. In this groundbreaking book, longtime psychiatrist Martin Kantor, MD—himself homosexual and once immersed in therapy to become “straight”—explains why so-c
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Sedel, Frédéric. Krabbe Disease in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0051.

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Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in a
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Sedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.

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Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supran
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Book chapters on the topic "Mutation cognitive"

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Bugajski, Jan, Tomasz Ukowski, Aleksandra Urbanczyk, et al. "TOPSIS-Inspired Socio-cognitive Mutation Operator for Metaheuristics." In Lecture Notes in Computer Science. Springer Nature Singapore, 2025. https://doi.org/10.1007/978-981-96-6005-6_19.

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Tinkham, Matthew. "Targeted Mutation." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-47829-6_169-1.

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Tinkham, Matthew. "Targeted Mutation." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_169.

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Sharma, Dhirendra Kumar. "Mutations." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_567.

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Sharma, Dhirendra Kumar. "Mutations." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-47829-6_567-1.

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Almkvist, O., K. Axelman, H. Basun, L. O. Wahlund, and L. Lannfelt. "Conversion from preclinical to clinical stage of Alzheimer’s disease as shown by decline of cognitive function in carriers of the Swedish APP-mutation." In Ageing and Dementia Current and Future Concepts. Springer Vienna, 2002. http://dx.doi.org/10.1007/978-3-7091-6139-5_12.

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Talalaev, Dmitry V. "Mutations in Hopfield Neural Network." In Advances in Neural Computation, Machine Learning, and Cognitive Research V. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-91581-0_17.

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Castonguay, Louis G., Soo Jeong Youn, Henry Xiao, and Andrew A. McAleavey. "The therapeutic relationship: A warm, important, and potentially mutative factor in cognitive-behavioral therapy." In Developing the therapeutic relationship: Integrating case studies, research, and practice. American Psychological Association, 2018. http://dx.doi.org/10.1037/0000093-008.

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Chen, Chia-Mei, and Shi-Hao Wang. "Advancing Malware Classification With an Evolving Clustering Method." In Cognitive Analytics. IGI Global, 2020. http://dx.doi.org/10.4018/978-1-7998-2460-2.ch096.

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This article describes how honeypots and intrusion detection systems serve as major mechanisms for security administrators to collect a variety of sample viruses and malware for further analysis, classification, and system protection. However, increased variety and complexity of malware makes the analysis and classification challenging, especially when efficiency and timely response are two contradictory yet equally significant criteria in malware classification. Besides, similarity-based classifications exhibit insufficiency because the mutation and fuzzification of malware exacerbate classif
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Wingbermüuhle, Ellen, and Ineke van der Burgt. "Noonan Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0026.

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Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994). In approximately 50% of the patients with definite NS, a missense mutation is found in the PTPN11 gene on chromosome 12. PTPN11 is one of the genes of the Ras-MAPK pathway, a signal transduction cascade that has been studied extensively for its role in human oncogenesis. The signaling cascade r
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Conference papers on the topic "Mutation cognitive"

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Xing, Dongmei, Zhijun Zeng, and Guoliang Xu. "Mutation Analysis Based on the Preliminary Experimental Data of Type II on Prediabetes Mellitus in Obese Rats." In 2024 7th Asia Conference on Cognitive Engineering and Intelligent lnteraction (CEII). IEEE, 2024. https://doi.org/10.1109/ceii65291.2024.00023.

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Ding, Shuhui, Wei Li, and Ying Huang. "Particle swarm optimization algorithm with dual population adaptive mutation." In 2022 IEEE 21st International Conference on Cognitive Informatics & Cognitive Computing (ICCI*CC). IEEE, 2022. http://dx.doi.org/10.1109/iccicc57084.2022.10101561.

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Domingos, Francine de Paula Roberto, Sayuri Aparecida Hirayama, Rafael de Almeida, et al. "Dync1h1 mutation in a patient with multiple neurological conditions." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.453.

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Introduction: Mutations in the cytoplasmic dynein 1 heavy chain 1 gene (DYNC1H1) were first described in 2010 related to dominant lower extremitypredominant spinal muscular amyotrophy (SMA) 1 and after to Charcot-MarieTooth (CMT) disease, neurodevelopmental disorders, central nervous system malformations and hereditary spastic paraplegia. The aim this case report intends to show a recent known genetic mutation that can be related to two different conditions simultaneously — CMT and SMA. Case report: F.R.S, male, 49 years old, noticed proximal left hemiparesis in his childhood; he started walki
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Gong, Wenyin, Zhihua Cai, Xinwei Lu, and Siwei Jiang. "A New Mutation Operator Based on the T Probability Distribution in Evolutionary Programming." In 2006 5th IEEE International Conference on Cognitive Informatics. IEEE, 2006. http://dx.doi.org/10.1109/coginf.2006.365569.

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Innocencio, Giovanna de Camargo, Juliana de Souza Rosa, Patrick de Abreu Cunha Lopes, Paulo Roberto Hernandes Júnior, and Jhoney Francieis Feitosa. "Clinical overview and therapeutic management of the cognitive and behavorial aspects of Huntington’s disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.177.

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Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease classified among chorea that, in addition to motor symptoms, is characterized by neuropsychiatric disorders. Objectives: to analyze the cognitive and behavioral clinical aspects of Huntington’s disease and the therapeutic management of these symptoms. Methods: a literature review was carried out from the Scielo and PubMed database, using “Huntington’s disease”, “Cognition”, “Behavior” and “Treatment” as descriptors, where 11 articles were selected between 2001 and 2018. Results: the nature of cognitive and
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Komari Alaei, Hamed, and Morteza Khademi. "Partial Mutation in GA a Novel Proposed Algorithm to Solving Complex Problem." In 2010 International Conference on Intelligent Computing and Cognitive Informatics (ICICCI 2010). IEEE, 2010. http://dx.doi.org/10.1109/icicci.2010.33.

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Machado, Roberta Ismael Lacerda, Bruno de Mattos Lombardi Badia, Wladimir Bocca Vieira de Rezende Pinto, et al. "INPP5K-Related congenital muscular dystrophy: when juvenile cataracts give clues to a complex diagnosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.511.

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Introduction: Congenital muscular dystrophies (CMDs) are a group of rare genetic muscle diseases that present at birth or during infancy with hypotonia and weakness. Multiple forms of CMDs are also associated with cerebral and ocular phenotypes. Recently, INPP5K mutations have been described associated with CMD, cataracts and cognitive impairment. The INPP5K gene, encodes SKIP, one of the enzymes that phosphorylate the 5-phosphate position of phosphoinositides and is highly expressed in developing and adult brain, eye and muscle. Methods: We performed a case report of three Brazilian patients
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Rocha, Isadora Souza, Paola Nabhan Leonel dos Santos, João Guilherme Bochnia Küster, et al. "Pelizaeus-Merzbacher Disease with Novel Variant: Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.672.

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Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are asso
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Melo Neto, Fernando de Paiva, Artêmio José Araruna Dias, Marinna Karla da Cunha Lima Viana, et al. "Mutation in the Codon V180i in Familial Creutzfeldt-Jakob Disease with Diffuse Cortical Hyperintensity, in Brazil." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.532.

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Context: Familial Creutzfeldt-Jakob Disease (fCJD) represents 10 to 15% of CJD. Among its subtypes there is a mutation in codon V180I, in which, in complementary exams are observed an absence of specific findings in the electroencephalogram, low concentration of proteins in the CSF and a pattern of diffuse cortical hyperintensity (DCH) in the diffusion sequence identified by MRI. The fCJD with mutation in the V180I codon is predominant in females, presenting symptoms at an advanced age, slow progression, marked by important cognitive decline and low presence of myoclonus. Regarding therapeutic
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Miyahira, Clara Kimie, Beatriz Medeiros Correa, Raphael Palomo Barreira, et al. "Artery of Percheron territory infarct in a young patient with thrombophilia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.026.

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Context: Stroke, when affecting territories dependent on posterior circulation, affects the thalamus and mesencephalic structures, regions irrigated by the paramedian arteries and perforating arteries of the posterior communicating artery and posterior cerebral artery. However, there is an anatomical variant of the paramedian arteries, the Percheron artery, when occluded causes bilateral thalamic infarction. Case report: a 53-year-old woman who presented blurred vision, holocranial headache, hypertensive peak, decreased level of consciousness, anisocoria, conjugate eye deviation. Tomography wa
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Reports on the topic "Mutation cognitive"

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Erblich, Joel, and Dana Bovbjerg. Psychological Distress, Cognitive Bias and Breast Cancer Surveillance Behavior in Women Tested for BRCA 1/2 Mutation. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada398143.

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Erblich, Joel, and Dana H. Bovbjerg. Psychological Distress, Cognitive Bias and Breast Cancer Surveillance Behavior in Women Tested for BRCA 1/2 Mutation. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada409853.

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Erblich, Joel, and Dana Bovbjerg. Psychological Distress, Cognitive Bias, and Breast Cancer Surveillance Behavior in Women Tested for BRCA 1/2 Mutation. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada420452.

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Erblich, Joel, and Dana Bovbjerg. Psychological Distress, Cognitive Bias and Breast Cancer Surveillance Behavior in Women Tested for BRCA 1/2 Mutation. Defense Technical Information Center, 2000. http://dx.doi.org/10.21236/ada391104.

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