Results 41 to 50 of about 206,646 (317)

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

Felix Aderca – scriitorul sub vremuri [PDF]

Revista de Istorie și Teorie Literară, 2011
F. Aderca was well known by the inter-war Romanian readers especially for his articles and polemics published in some of the most important newspapers, magazines and reviews of the age.
Mihaela Iancu
doaj  

Glottodydaktyczna świadomość lingwistyczna nauczycieli szkół publicznych uczących osoby z doświadczeniem migracji

Acta Universitatis Lodziensis: Kształcenie Polonistyczne Cudzoziemców, 2023
Celem niniejszego tekstu jest pokazanie wyników badań poziomu glottodydaktycznej świadomości lingwistycznej nauczycieli, którzy prowadzą zajęcia w polskich szkołach publicznych (podstawowych i ponadpodstawowych) z języka polskiego jako obcego/drugiego z ...
Mateusz Gaze
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

About the Influence of the Machined Defect Shape and Position on the Stress Distribution for Pipelines with Volumetric Defects

The Annals of “Dunarea de Jos” University of Galati. Fascicle IX, Metallurgy and Materials Science, 2019
The aim of the paper is to analyse how the shape and position of the machined volumetric surface defects (VSD) may influence the stresses and displacements distributions for pipelines with VSD.
Ionuţ LAMBRESCU
doaj   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

THE STRENGTH ANALYSIS FOR SOME BUTTONS USED IN THELIFTING PROCESS OF A HORIZONTAL CYLINDER [PDF]

Romanian Journal of Petroleum & Gas Technology, 2020
In the paper is presented a stress analysis for some cylindrical buttons used for lifting up a horizontal cylinder. The maps of equivalent stresses are presented and some interesting results are obtained.
Serban Vasilescu
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Best friends: children use mutual gaze to identify friendships in others [PDF]

, 2012
This study examined children’s ability to use mutual eye gaze as a cue to friendships in others. In Experiment 1, following a discussion about friendship, 4-, 5-, and 6-year-olds were shown animations in which three cartoon children looked at one another,
Shiri Einav, Nurmsoo, Erika, Hood, B.M., Hood, Bruce M, Erika Nurmsoo, Einav, S., Bruce M. Hood, Einav, Shiri, Nurmsoo, Erika D   +8 more
core   +1 more source

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source

Gaze following, gaze reading, and word learning in children at-risk for autism [PDF]

, 2011
We investigated gaze following abilities as a prerequisite for word learning, in a population expected to manifest a wide range of individual variability – children with a family history of autism.
Gliga, Teodora, Johnson, Mark H., Charman, Tony; id_orcid, ?, ?, Charman, T., Johnson, M H, Hudry, K., Charman, Tony, Gliga, T, Charman, T, Hudry, Kristelle, Elsabbagh, Mayada   +11 more
core   +1 more source