Results 71 to 80 of about 128,473 (302)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Interviewer: 'Are women and girls ever responsible for the domestic violence they encounter?' Student: 'No, well, unless they did something really, really bad …' [PDF]

, 2015
Research shows the ‘gendered nature’ of domestic violence, with Women’s Aid (a UK-based charity) estimating that 1 in 4 women are affected (2014). This paper reports on a project - funded by Comic Relief, completed by Nottinghamshire Domestic Violence ...
Sullivan, K, Lee, D, Allwood, R, Weinstein, M   +3 more
core   +1 more source

Institutional links to cope with school violence: an exploratory study

Escola Anna Nery, 2017
Objective: Identify and analyze the institutional links of secondary schools to cope with school violence. Methods: Qualitative, descriptive and exploratory study, based on the concept of social network.
Maria das Graças Carvalho Ferriani, Diene Monique Carlos, Andressa Janerini Oliveira, Michelly Rodrigues Esteves, José Eurípedes Martins   +4 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Speaking against Institutional Violence

In this personal essay, I share my experience with institutional violence in higher education. The experience bent time and changed me. It emboldened and frightened me.
Jurow, A. Susan
core   +2 more sources

Juridical–Patriarchal Habitus: Invisibility of Moral Violence Based on Gender Against Women in the Legal Field of Queretaro, Mexico

Social Sciences
This article examines how justice institutions produce and reproduce gender-based violence against women through the invisibilization of moral violence, with particular attention to their spatial dimensions.
Karen-Edith Córdova-Esparza, Elvia-Izel Landaverde-Romero, Diana-Margarita Córdova-Esparza, Rocio-Edith López-Martínez, Teresa García-Ramírez   +4 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Gender-based violence in higher education institutions in Ecuador: a systematic literature review

Frontiers in Education
Gender-based violence in Ecuador’s higher education institutions (HEIs) is a structural and widespread problem, rooted in patriarchal sociocultural norms.
Kenia Laz-Figueroa, Fabricio Guevara-Viejó, Juan Diego Valenzuela-Cobos, Brizeida Raquel Hernández-Sánchez, José Carlos Sánchez-García   +4 more
doaj   +1 more source

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Rationalising ‘Irrational’ Support for Political Violence

, 2012
This paper provides a rationale for group support for political violence in situations where violence does not provide a material benefit. Rabin’s (1993) theory of fairness is adopted to demonstrate that although group violence may not be the equilibrium
Jennings, Colin
core   +2 more sources