Results 201 to 210 of about 24,701,591 (295)

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

Analysis and visualization of energy densities. I. Insights from real-time time-dependent density functional theory simulations. [PDF]

Phys Chem Chem Phys, 2020
Yang J, Pei Z, Deng J, Mao Y, Wu Q, Yang Z, Wang B, Aikens CM, Liang W, Shao Y.   +9 more
europepmc   +1 more source

On the Topological Phase around Conical Intersections with Tamm-Dancoff Linear-Response Time-Dependent Density Functional Theory. [PDF]

J Phys Chem A
Taylor JT, Tozer DJ, Curchod BFE.
europepmc   +1 more source

Analysis and visualization of energy densities. II. Insights from linear-response time-dependent density functional theory calculations. [PDF]

Phys Chem Chem Phys, 2020
Pei Z, Yang J, Deng J, Mao Y, Wu Q, Yang Z, Wang B, Aikens CM, Liang W, Shao Y.   +9 more
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

Nonadiabatic ab initio molecular dynamics using linear-response time-dependent density functional theory

Open Physics, 2013
Curchod Basile, Penfold Thomas, Rothlisberger Ursula, Tavernelli Ivano   +3 more
doaj   +1 more source

Benchmarking Functionals for Strong-Field Light-Matter Interactions in Adiabatic Time-Dependent Density Functional Theory. [PDF]

J Phys Chem Lett
Neufeld O, Tancogne-Dejean N, Rubio A.
europepmc   +1 more source

Enhancing the Photoelectric Properties of Zinc Porphyrin Dyes by Introducing Five-Membered Heterocyclic Rings into the Electron Donor: A Density Functional Theory and Time-Dependent Density Functional Theory Study. [PDF]

ACS Omega, 2021
Yuan Q, Yu Y, Sun Z, Song X.
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Photoinduced Autopromoted Ni-Catalyzed Three-Component Arylsulfonation Inspired by Density Functional Theory/Time-Dependent Density Functional Theory-Simulated Photoactive Nickel Species. [PDF]

Org Lett
Zhang F, Cheng XF, Liang X, Hu DD, Gao Q, Wang H, Wu P, Li Y.   +7 more
europepmc   +1 more source