Results 181 to 190 of about 25,715,090 (321)

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

The Accuracy in Estimating Truck Class Rates for Logistical Planning

Operations Research ...
Ballou, Ronald (Creatorcre)
core  

How Does Speaking A Free Word Order Language Influence Sentence Planning and Production? Evidence From Pitjantjatjara (Pama-Nyungan, Australia). [PDF]

Cogn Sci
Kidd E, Garrido Rodríguez G, Wilmoth S, Garrido Guillén JE, Nordlinger R.   +4 more
europepmc   +1 more source

The role of external factors on the reactivation of the heritage language of Turkish-German returnees. [PDF]

Front Psychol, 2023
Antonova-Unlu E, Bayram F.
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

Applications of Multi-Attribute Utility Theory in the Health Care Delivery System Since 1970

Operations Research ...
Reisman, Arnold (Creatorcre), Chaudhuri, Durjoy K. (Creatorcre)   +1 more
core  

Oral reading fluency as a predictor of neuropsychological test performance: Evidence from Hungarian language. [PDF]

J Neuropsychol
Fernández AL, Simonyi T, Leite GR, Harmath-Tánczos T.   +3 more
europepmc   +1 more source

The Role of Case Syncretism in Agreement Attraction: A Comprehension Study. [PDF]

Front Psychol, 2022
Slioussar N, Magomedova V, Makarova P.
europepmc   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Analysis of Feedback Models of Higher Education Degree Production

Operations Research ...
Michenzi, Alfred R. (Creatorcre)
core