Results 191 to 200 of about 249,635 (303)

Message from animal models and experimental medicine for 2024-Striving for excellence with distinctive features. [PDF]

Animal Model Exp Med
Qin C.
europepmc   +1 more source

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

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

Longevity-CancerDB: unlocking the distinctive features and roles of longevity-associated genes in tumourigenesis. [PDF]

Clin Transl Med
Guo L, Xia D, Jin J, Xiong S, Xu X, Luo L, Yang X, Zhao X, Ren D, Yu J, Liang T.   +10 more
europepmc   +1 more source

Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy. [PDF]

Int J Mol Sci, 2020
Zhang L, Evans A, von Ruhland C, Draman MS, Edkins S, Vincent AE, Berlinguer-Palmini R, Rees DA, Haridas AS, Morris D, Tee AR, Ludgate M, Turnbull DM, Karpe F, Dayan CM.   +14 more
europepmc   +1 more source

Distinctive Features of Virtual Forms of the Modern Political Protest

, 2016
R. I. Sharapov
openalex   +1 more source

Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome [PDF]

, 2014
Tetsutaro Yahata, Akihiko Takeuchi, Shinya Yoshida, Hiroyuki Tsuchiya   +3 more
openalex   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Distinctive Features of Rotational Thromboelastometry in Patients with Infective Endocarditis Undergoing on-Pump Cardiac Surgery: A Retrospective Propensity Score-matched Observational Study. [PDF]

Clin Appl Thromb Hemost
Vander Zwaag S, Kukel I, Towarek-Nocon K, Fassl J.   +3 more
europepmc   +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