Results 151 to 160 of about 4,207,792 (288)

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

Serine Acetyltransferase from <i>Pseudomonas aeruginosa</i>: Distinctive Features, Pleiotropic Roles, and Therapeutic Potential. [PDF]

Int J Mol Sci
Guggino F, Hijazi S, Martedì R, Buoli Comani V, D'Angelo JML, De Bei O, Annunziato G, Pieroni M, Costantino G, Bettati S, Marchetti M, Frangipani E, Campanini B.   +12 more
europepmc   +1 more source

Distinctive features and challenges in catenane chemistry. [PDF]

Chem Sci, 2022
Au-Yeung HY, Deng Y.
europepmc   +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

Distinctive Features of the Military Preparatory School

, 1948
The purposes of this study are: (1) to analyze the military system of education and discipline developed and employed by the preparatory institutions of the United States which combine military training with academic training; (2) to show that the ...
Cumbie, Calvin Artimus
core  

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

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. [PDF]

Hum Genome Var, 2022
Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T.   +12 more
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Identifying Platelet Lipidomic Networks and Evaluating Machine-Learning Models to Identify Distinctive Features Between Chronic and Acute Coronary Syndrome. [PDF]

Cells
Kanpa VN, Whoriskey S, Le Chevillier A, de Villiers J, Brun A, Harm T, Sigle M, Dittrich K, Goldschmied A, Rath D, Lämmerhofer M, Maguire PB, Gawaz MP, Weiss L.   +13 more
europepmc   +1 more source

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. [PDF]

Hum Genome Var, 2023
Shimojima Yamamoto K, Yoshimura A, Yamamoto T.   +2 more
europepmc   +1 more source