Results 221 to 230 of about 536,745 (332)

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

, 2023
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux‐Boucher, Ange‐Line Bruel, Alfredo Brusco, Dalal Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie‐Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne‐Sophie Denommé‐Pichon, Marilena Carmela Di Giacomo, Martine Doco‐Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G. Gleeson, Delphine Héron, J. Belleville Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer N. Partlow, Laurent Pasquier, Lynette S. Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid E. Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federico Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi‐Gorji, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A. Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Bürglen, Juliette Piard   +89 more
openalex   +2 more sources

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Large-scale automated measurement and genetic parameters analysis of early-life myofiber characteristics in broilers. [PDF]

Poult Sci
Yang Y, Wang C, Li G, Yan Y, Wu G, Wen C, Yang N.   +6 more
europepmc   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Phenotypic and Agromorphological Diversity Reveals Detailed Information About Accessions with Productive Potential for Cotton (<i>Gossypium barbadense</i> L.) in Northeastern Peru. [PDF]

Plants (Basel)
Córdova-Sinarahua D, Linares-Huapaya S, Manco-Céspedes EI.   +2 more
europepmc   +1 more source

Portable Low‐Field Magnetic Resonance Imaging in People With Human Immunodeficiency Virus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aging population of people with HIV (PWH) raises heightened concerns regarding accelerated aging and dementia. Portable, low‐field MRI (LF‐MRI) is an innovative technology that could enhance access and facilitate routine monitoring of PWH.
Annabel Sorby‐Adams, Malachi Keo, Jennifer Guo, Daire Daly, Richard Ahern, Kimon Zachary, Gregory Robbins, Rajesh T. Gandhi, Bragi Sveinsson, Adam de Havenon, Kevin N. Sheth, Otto Rapalino, Juan Eugenio Iglesias Gonzales, W. Taylor Kimberly, Shibani S. Mukerji   +14 more
wiley   +1 more source

Association Between Neutrophil Percentage-Albumin Ratio and Biological Aging in Rheumatoid Arthritis in the United States: A Cross-Sectional Study of NHANES. [PDF]

Mediators Inflamm
Xu Y, Zhao H, Gao Y, Zhao L, Han J, Li R, Wu Z, Zhao J, Zhang L.   +8 more
europepmc   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Relationship Between Age at First Calving and 305-Day Milk Yield in Hungarian Holstein-Friesian Cows: Trends and Genetic Parameters. [PDF]

Animals (Basel)
Bene SA, Kőrösi ZJ, Bognár L, Polgár JP, Szabó F.   +4 more
europepmc   +1 more source

Phenotypic/Genotypic Correlations in Patients with Epidermolytic Hyperkeratosis and the Effects of Retinoid Therapy on Keratin Expression

, 2001
Tuomas Virtanen
openalex   +1 more source