Results 91 to 100 of about 491,727 (238)

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

Summary of significantly altered proteins between the LHON cases and the unaffected relatives.

, 2014
*Gene name according to HUGO Gene Nomenclature Committee.#indicates P value based on Post Hoc Tukey Test after one way ANOVA and the value less than 0.05 is considered significant in both tests.Summary of significantly altered proteins between the LHON ...
Supannee Kaewsutthi (628954), Wanicha Chuenkongkaew (628956), Masayoshi Kuwano (628957), Visith Thongboonkerd (502903), Takeshi Tomonaga (162091), Aung Win Tun (628952), Sakdithep Chaiyarit (628953), Wanphen Katanyoo (628955), Patcharee Lertrit (628958), Chayanon Peerapittayamongkol (246613)   +9 more
core   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Differentially expressed proteins which show similar trends of down-regulation in the mitochondrial proteomes of both LHON cases and unaffected relatives when compared with controls.

, 2014
Differentially expressed proteins which show similar trends of down-regulation in the mitochondrial proteomes of both LHON cases and unaffected relatives when compared with controls.
Supannee Kaewsutthi (628954), Wanicha Chuenkongkaew (628956), Masayoshi Kuwano (628957), Visith Thongboonkerd (502903), Takeshi Tomonaga (162091), Aung Win Tun (628952), Sakdithep Chaiyarit (628953), Wanphen Katanyoo (628955), Patcharee Lertrit (628958), Chayanon Peerapittayamongkol (246613)   +9 more
core   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Modeling Progressive Brain Volume Losses in Chronic Moderate Severe Traumatic Brain Injury: Extensive, but Attenuating

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive brain atrophy has now been widely observed in the chronic stages of moderate–severe traumatic brain injury (msTBI), but there is only coarse information regarding its prevalence and magnitude, and whether rate of atrophy accelerates or attenuates across time. We examined these questions in a Canadian inception cohort from
Robin E. A. Green, Brenda Colella, Alana Changoor, David J. Mikulis, Adrienne Li, Kadeen Johns, Georges A. Monette   +6 more
wiley   +1 more source

Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang, Wanru Chen, Xiangpen Li, Hengjian Lu, Chenguang Li, Xiaoni Zhang, Lulu Bu, Xiaoyu Xu, Qingyu Shen, Ying Peng   +9 more
wiley   +1 more source

The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta, Augusto J. Mendes, Valentina Garibotto, Cecilia Boccalini, Aurelien Lathuiliere, Innocenzo Rainero, Elisa Rubino, Henrik Zetterberg, Nicholas J. Ashton, Federica Ribaldi, Giovanni B. Frisoni, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

Electrochemical Behavior of Flame‐Sprayed Sc‐Doped AlCoCrFeMo High‐Entropy Alloy Coatings in 3.5% Sodium Chloride Solution

Advanced Engineering Materials, EarlyView.
Scandium (Sc)‐doped AlCoCrFeMo HEA coatings are fabricated via flame spraying with 0.1, 0.3, and 0.5 wt% Sc additions. Among these, the HEA‐Sc0.3 coating exhibits the highest corrosion resistance, indicated by a more positive corrosion potential and lower current density.
Pankaj Kumar, Akash Vyas, Mohammad Aatif Qazi, Nashit Jalal, Maria Ophelia Jarligo, Mostafa Yakout, Jing Liu, André McDonald   +7 more
wiley   +1 more source

Influence of Scan Strategies in Electron Beam Powder Bed Fusion on Solidification, Microstructure, and High‐Temperature Compressive Properties of γ′‐Strengthened Inconel 738LC

Advanced Engineering Materials, EarlyView.
Experiments and thermophysical simulations were conducted to investigate the electron beam powder bed fusion electron beam (PBF‐EB/M) process for the γ′‐strengthened nickel‐based superalloy Inconel 738LC. The results demonstrate the impact of process‐induced microstructural variations on high‐temperature mechanical behavior, providing a basis for ...
Jan Niklas Petenati, Karthik Kumar Banku, Prasanth Bondi, Ivan Zhirnov, Yangyiwei Yang, Gordon Schmidt, Jürgen Christen, Georg Hasemann, Manja Krüger, Bai‐Xiang Xu, Bilal Gökce, Silja‐Katharina Rittinghaus   +11 more
wiley   +1 more source