Results 11 to 20 of about 311,538 (261)

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. [PDF]

Ann Clin Transl Neurol, 2023
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in which SLC2A1 is required for growth.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA.   +14 more
europepmc   +2 more sources

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. [PDF]

Ann Clin Transl Neurol, 2023
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial DMT, and persistence/discontinuation of subsequent DMT(s).
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L.   +13 more
europepmc   +2 more sources

Addressing exploitation and inequities in open science: A relational perspective

Developing World Bioethics, Volume 23, Issue 4, Page 331-343, December 2023., 2023
Abstract There are concerns that participation in open science will lead to various forms of exploitation – of researchers and scholars in low‐income countries and under‐resourced institutions. This article defends a contrary thesis and demonstrates the exact ways the underexplored notions of communal relationships, human dignity and social justice ...
Cornelius Ewuoso, Luís Cordeiro‐Rodrigues, Ambroise Wonkam, Jantina de Vries   +3 more
wiley   +1 more source

La metafora: the power of metaphors and creative resources in working systemically with families and children with autism—a conversation with Carmine Saccu

Australian and New Zealand Journal of Family Therapy, Volume 44, Issue 3, Page 393-403, September 2023., 2023
Abstract Metaphors are valuable tools of expression, which give meaning to situations and allow the spontaneous processing of feelings and emotions. As therapists, we can support clients to develop and create their individual metaphor to explain their own meaning of experiences or communicate their perception of problems.
Deisy Amorin‐Woods, Carmine Saccu
wiley   +1 more source

EL FETICHISMO DE LA IMAGEN Y LA NUEVA ESTÉTICA VOYERISTA. UN ANÁLISIS DEL ACTO DE MIRAR EN NOCHES DE ADRENALINA (1981), DE CARMEN OLLÉ

Metáfora, 2020
En este artículo abordaremos el poemario Noches de adrenalina (1981) de Carmen Ollé desde la óptica del análisis estético, y específicamente trataremos el Acto de Mirar en “Mi mente se hipnotiza...” e “Imagino lo que no existe para mí...”, que son los ...
Jian Marco López Pizardo
doaj   +1 more source

Metafora bentuk manusia dalam sastra lisan mantra Sinding Badan masyarakat Melayu Sambas

Litera, 2022
Mantra sebagai bentuk puisi tradisional merupakan warisan dari kehidupan primitif  zaman purba atau prasejarah yang berkembang sampai hari ini. Selain itu, mantra mengandung bahasa sugestif dan magis bagi para pengamalnya.
Ahadi Sulissusiawan, Dedy Ari Asfar, Mariyadi Mariyadi, Agus Syahrani   +3 more
semanticscholar   +1 more source

Strategic generosity among local patrons: Place belonging and ethnic exclusion in a transforming lower‐income neighborhood of Tel Aviv

American Anthropologist, Volume 125, Issue 3, Page 570-581, September 2023., 2023
Abstract Working at the intersection of exchange theory, urban anthropology, and ethnic and racial studies, this article offers an original perspective on the role of local patrons’ exchange networks in constructing place belonging during racial urban change.
Tal Shamur
wiley   +1 more source

García-Bedoya, Carlos. Hermenéutica literaria. Una introducción al análisis de textos narrativos y poéticos.

Metáfora, 2020
De acuerdo con el diccionario virtual de la Real Academia Española, una de las acepciones de “manual” es la siguiente: “libro en que se compendia lo más sustancial de una materia” y, en efecto, Hermenéutica literaria… ofrece una mirada  anorámica y, al ...
Sha Sha Gutiérrez
doaj   +1 more source

EL SER HUMANO REDUCIDO: LA PIEDRA COMO MODELO ÉTICO Y ORDENADOR DEL MUNDO EN LA PIEDRA ALADA (2005)

Metáfora, 2023
La muerte vinculada a elementos de la familia y de la naturaleza es un tema muy recurrente en la obra poética de José Watanabe (1945-2007). La piedra, ciertamente, como un elemento de la naturaleza, ha sido motivo de pocos, pero valiosos estudios sobre ...
Tomás Enmanuel Rivero López
doaj   +1 more source

METAFORA DALAM KAJIAN LINGUISTIK, SASTRA, DAN TERJEMAHAN: SEBUAH PENGANTAR

DIALEKTIKA: JURNAL BAHASA, SASTRA DAN BUDAYA, 2022
Pada makalah ini penulis bertujuan untuk menunjukkan bagaimana metafora dianalisis dalam kajian linguistik, sastra, dan terjemahan. Penulis menguraikan teori dan metodologi penelitian yang digunakan untuk menganalisis metafora dalam tiga artikel ilmiah ...
Srisna J. Lahay
semanticscholar   +1 more source