Search results for "Intellect"
showing 10 items of 642 documents
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
2014
International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.METHODS:By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients from four families with IEE due to biallelic alterations of WWOX.RESULTS:We identified eight deleterious WWOX alleles consisting in four deletions, a four base-pair frameshifting deletion, one missense and two nonsense mutations. Genotype-phenotype correl…
Diagnostic and therapeutic aspects of hemiplegic migraine
2020
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We review…
Gustav Radbruch, a left-wing jurist under the Weimar Republic
2011
What did it mean to be a left-wing jurist under the Weimar Republic? This study attempts to answer this question through the example of Gustav Radbruch (1878-1949), legal philosopher, but also Social-Democratic activist, supporter of the Republic and for some time Member of Parliament and Justice Minister. Even though he is not as well-known as Hans Kelsen or Carl Schmitt,, Radbruch participated in all the important legal debates of his time – debates which reflected the most significant issues of that time of crisis, the Weimar Republic. By analyzing the way in which Radbruch responded to the challenges of the crisis of law and democracy, this study tries to contribute to a better comprehe…
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
Jacques Ellul, une figure intellectuelle technocritique au XXe siècle
2016
International audience
Sul far del giorno
2016
Edizione critica dell'autobiografia del Premio Nobel per la Letteratura Wole Soyinka, corredata di Prefazione e Note della curatrice, che ne è anche la traduttrice, di una cronologia storica, di mappe geopolitiche della Nigeria dall'indipendenza, e di un apparato fotografico pubblicato in Italia in anteprima mondiale. Soyinka, classe 1934, drammaturgo, poeta, saggista, romanziere e attivista politico è stato il primo autore africano a essere insignito del Premio Nobel per la Letteratura. In questo avvincente memoir, racconta le proprie vicende di artista, intellettuale e attivista militante nella sua Nigeria e nel palcoscenico del mondo, in cui da sempre porta le voci dell'Africa. Nel lingu…
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
2020
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…
The use of intellectual property rights by French firms
2012
International audience
La biopiraterie et le commerce des produits pharmaceutiques face aux droits des populations locales sur leurs savoirs traditionnels
2006
Collection des travaux du Credimi
Numériser 50 ans d'affiches, plans et gravures du Parvis Saint-Jean : le traitement in concreto du droit d'auteur dans un programme national du Minis…
2015
International audience; Objet de la mission de conseil en propriété littéraire et artistique que m'a confiée le Centre dramatique national du Théâtre Dijon Bourgogne (TDB), le projet répondait à un appel « Numérisation du Ministère de la Culture » lancé fin 2012 et dont il est fait état dans le Rapport Lescure 1. Intitulé Constitution et protection d'un patrimoine culturel théâtral, ce projet portait sur une collection de 50 ans d'affiches, plans, gravures du TDB, pour partie versée aux archives municipales de la Ville de Dijon 2. Il a fait l'objet d'une convention entre le TDB et la Maison des Sciences de l'Homme de Dijon 3. Le Centre de Ressources Numériques Thématique (CRNT) de la MSH a …