Results 81 to 90 of about 82,544 (253)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Research Paper: Comparison of Shoulder Proprioception in Women with and without Generalized Joint Laxity

Journal of Rehabilitation, 2016
Objective Generalized joint hypermobility predisposes some individuals to a wide variety of musculoskeletal complaints, especially in the shoulder joint.
Mahan Rastgar, Afsun Nodehi Moghadam, Enayatollah Bakhshi, Elham Sarabadani Tafreshi, Sahar Toluee   +4 more
doaj  

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Effects of Acute Fatigue of the Tibialis Anterior Due to a Weight-Bearing Muscle Activity on the Ankle Joint Position Sense in Healthy Subjects

Journal of Rehabilitation Sciences and Research, 2014
Background: Joint position sense (JPS) is comprised of sensory input from several sources, including skin, joint capsule/ligaments, and muscular receptors.
Ali Ghanbari, Farahnaz Ghafarinejad, Farshid Mohammadi   +2 more
doaj  

The Effect of Hydrotherapy on Pain, Joint Position Sense, and Two-Point Discrimination in Women with Nonspecific Chronic Low Back Pain

مجله پژوهش در علوم توانبخشی, 2018
Introduction: Patients with nonspecific chronic low back pain experience deficit in joint position sense acuity and two-point discrimination, and these deficits are associated with pain in these patients.
Seyedeh Yasaman Asadi, Amir Letafatkar, Sadrodin Shojaedin, Sajad Rezaei   +3 more
doaj   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

The Effect of Short-Term Use of Cold Spray on Strength and Ankle Joint Position Sense in Professional Wrestlers

Biyumikānīk-i varzishī, 2017
Objective: The aim of this study was to investigate the effect of a short period of cryotherapy on strength and ankle position sense in professional wrestlers.
Hamidreza Naserpour, Heydar Sadeghi
doaj  

“Investigating the combined effects of scapular-focused training and Mulligan mobilization on shoulder impingement syndrome” a three-arm pilot randomized controlled trial

BMC Musculoskeletal Disorders
Objectives To assess whether the combination of scapular-focused training and mulligan mobilization (SFTMM) improves pain and proprioception compared to scapular-focused training (SFT) and a control group in female rock climbers with shoulder impingement
Bita Zanjani, Seyed Sadredin Shojaedin, Hamed Abbasi   +2 more
doaj   +1 more source

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