Results 61 to 70 of about 62,505 (251)

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

Quantum annealing for joint chance-constrained unit commitment

Journal of Mathematics in Industry
Uncertainty is fundamental in modern power systems, where renewable generation and fluctuating demand make stochastic optimization indispensable. In stochastic optimization, chance constraints enable the representation of uncertainty in renewable energy ...
David Ribes Marzá, Tatiana González Grandón   +1 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Fairness of Strategic Resource Allocation, Team Commitment and Commitment to Implementing Strategy in Indonesian International Joint Ventures

Jurnal Siasat Bisnis, 2016
Penelitian ini bertujuan untuk mengkaji hubungan antara keadilan alokasi sumber daya strategis, komitmen manajemen tim ke beberapa pihak, dan strategi perusahaan patungan internasional di Indonesia.
Syukri Lukman, Aizzat Mohd. Nasurdin, Osman Mohamad   +2 more
doaj   +4 more sources

Commitment and the changing sequence of cohabitation, childbearing, and marriage: Insights from qualitative research in the UK

Demographic Research, 2015
Background: In the United Kingdom, standard, traditional sequences of family events have been replaced by a de-standardized life course; marriage is postponed and no longer necessary for childbearing; unmarried cohabitation has increased.
Ann Berrington, Brienna Perelli-Harris, Paulina Trevena   +2 more
doaj   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Potential evidence of reengagement attempts following interruptions of a triadic social game in bonobos and chimpanzees.

PLoS ONE
When humans engage in joint action, they seem to so with an underlying sense of joint commitment, a feeling of mutual obligation towards their partner and a shared goal.
Raphaela Heesen, Adrian Bangerter, Klaus Zuberbühler, Katia Iglesias, Federico Rossano, Jean-Pascal Guéry, Emilie Genty   +6 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Having sex together

Cogent Arts & Humanities
Good sex makes much of contemporary joint action theory look bad. Having sex is typically a joint intentional activity – having sex together –, but established theories of acting together seem rather ill equipped for application to the case.
Hans Bernhard Schmid
doaj   +1 more source