Results 201 to 210 of about 1,385,843 (310)

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

Productivity and Subsidies in European Union Countries: An Analysis for Dairy Farms Using Input Distance Frontiers

The major objective of this paper is to examine the association between agricultural subsidies and farm efficiency using data from the European Farm Accountancy Data Network (FADN) for operations specializing on dairy.
Bravo-Ureta, Boris E., Moreira, Victor H., Latruffe, Laure, Dupraz, Pierre, Desjeux, Yann   +4 more
core   +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

Tree reconstruction guarantees from CRISPR-Cas9 lineage tracing data using Neighbor-Joining. [PDF]

Genome Res
An K, Prillo S, Wu W, Kristanto I, Jones MG, Song YS, Yosef N.   +6 more
europepmc   +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

Parametric Decomposition of Output Growth: An Input-Distance Function Approach

Research and Development/Tech Change/Emerging Technologies,
Tzouvelekas, Vangelis, Karagiannis, Giannis, Midmore, Peter   +2 more
core   +1 more source

Power-law penalties correct distance bias in single-cell co-accessibility and deep-learning chromatin interaction predictions. [PDF]

NAR Genom Bioinform
Schlegel L, Gómez Cano F, Marand AP, Johannes F.   +3 more
europepmc   +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

QLFDGWO: Q-Learning-Guided Weighted Fitness-Distance Grey Wolf Optimizer for UAV Path Planning. [PDF]

Biomimetics (Basel)
Huang C, Yang B, Huo Y.
europepmc   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source