Results 191 to 200 of about 117,391 (253)

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

Optimization of artificial intelligence models for prediction of new-onset cardiovascular disease in patients with arterial hypertension. [PDF]

PLOS Digit Health
Rodilla E, Arrizibita-Iriarte O, Miranda-Serrano B, Ruilope-Urioste LM, Sedano-Gil G, Ortiz A, Costa-Muñoz JA, Chordá-Ribelles J, Zabalza-Zudaire M, Sayar-Beristain O.   +9 more
europepmc   +1 more source

Dual-output hybrid converter based on the modular universal dc-ac/dc converter. [PDF]

Sci Rep
Gutiérrez-Escalona J, González-Antúnez JJ, Roncero-Clemente C, Matiushkin O, Pires VF, Romero-Cadaval E.   +5 more
europepmc   +1 more source

Online event-triggered switching load frequency control of islanded microgrids through machine learning. [PDF]

Discov Electron
Omeje OU, Olukanni L, Okojie DE, Eya CU, Aina AB.   +4 more
europepmc   +1 more source

Proportional Hazards Regression for Interval-Censored Outcomes With an Interval-Censored Covariate. [PDF]

Stat Med
Li D, Song Y, Lu W, Günthard HF, Kouyos R, Wang R.   +5 more
europepmc   +1 more source