Results 191 to 200 of about 22,002 (260)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Chronic Resistance Exercise Combined with Nutrient Timing Enhances Skeletal Muscle Mass and Strength While Modulating Small Extracellular Vesicle miRNA Profiles. [PDF]

Biomedicines
Csala D, Ádám Z, Horváth-Szalai Z, Sebesi B, Garai K, Kvell K, Wilhelm M.   +6 more
europepmc   +1 more source

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study

Annals of Neurology, EarlyView.
Objective Lactate is increasingly recognized as an energy substrate, but its relevance to amyotrophic lateral sclerosis (ALS) remains unclear. We examined whether blood lactate is associated with survival and weight loss in ALS. Methods This retrospective study included an Australian exploratory cohort and a Japanese validation cohort with clinical ...
Ryutaro Nakamura, Frederik J. Steyn, Shuhei Kobashi, Nobuhiro Ogawa, Akihiro Kitamura, Isamu Yamakawa, Robert D. Henderson, Shyuan T. Ngo, Makoto Urushitani   +8 more
wiley   +1 more source

<i>Specific</i> Bioelectrical Vector Reference Values for Italian Adults: A Multicentre Study. [PDF]

J Funct Morphol Kinesiol
Frau F, Pizzo Junior E, Succa V, Stagi S, Moro F, Sguaizer F, Petri C, Paoli A, Mascherini G, Izzicupo P, Bertoli S, Gilardini L, Cavaggioni L, Cereda E, Campa F, Micheletti Cremasco M, Toselli S, Marini E.   +17 more
europepmc   +1 more source

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

A Preliminary Investigation of a Conceptual Framework of Performance Enhancement Across Different Life Domains. [PDF]

Sports (Basel)
Skoufa L, Ourda D, Barkoukis V, Tsorbatzoudis H.   +3 more
europepmc   +1 more source

CNC–PNIPAM Drug Delivery System Improves Endometrial Receptivity via Natural Killer Cell Immune Tolerance in Endometriosis

Advanced NanoBiomed Research, EarlyView.
An injectable CNC–PNIPAM hydrogel is developed for intrauterine co‐delivery of levonorgestrel and botropase. This platform reprograms uterine natural killer cells toward an immune–tolerant phenotype and enhances endometrial receptivity marker expression. The results demonstrate a promising strategy to counteract endometriosis–associated infertility and
Zhou Liang, Yingjie Wang, Chenyu Bai, Pengfei Li, Xin He, Meng Ma, Xiaoying Luo, Yi Song, Yao Li, Yun Wang   +9 more
wiley   +1 more source

Letter to Editor: Effects of intermittent fasting diet in overweight and obese postmenopausal women with rheumatoid arthritis: A randomized controlled clinical trial

Complementary Therapies in Medicine
Mahsa Ranjbar, Sakineh Shab-Bidar, Abdolrahman Rostamian, Hamed Mohammadi, Aryan Tavakoli, Kurosh Djafarian   +5 more
doaj   +1 more source

Differences in Total Daily Energy Expenditure Across Field Sports: A Narrative Review. [PDF]

J Funct Morphol Kinesiol
Skalitzky B, Fields JB, Jones MT, Kerksick CM, Jagim AR.   +4 more
europepmc   +1 more source

A Cost‐Effective Hybrid Method For Homogeneous Matrix Coating in Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry Imaging Using Simultaneous Spin and Spray Deposition

Analysis &Sensing, EarlyView.
This study introduces an in‐house spin coater for matrix‐assisted laser desorption/ionization mass spectrometry imaging, providing homogeneous matrix deposition via simultaneous spray and spin. The approach yields reproducible signals and clear metabolite distributions in complex tissues.
Lanaia Ítala Louzeiro Maciel, Jussara Valente Roque, Almir Custodio Batista Junior, Gabriel Henry Morais Dufrayer, Naará da Silva Balbino, Keilah Valéria Naves Cavalcante, Marcos Divino Ferreira Junior, Andrea Rodrigues Chaves, Boniek Gontijo Vaz   +8 more
wiley   +1 more source