Results 241 to 250 of about 5,490,229 (291)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

CompBio and MIRaS-a multi-omic analysis platform built on a memory-based intelligence engine. [PDF]

Nucleic Acids Res
Barve RA, Storer CE, Hoxsie WD, Marcum C, McMichael JF, Lalmansingh JM, Smith BK, Johnson MR, Kuster DJ, Head RD.   +9 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Towards million-token context windows: a topology-preserving framework for adaptive transformer sparsification. [PDF]

Sci Rep
Santos AR.
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le, Victoria E. Jackson, Rachel E. Stirling, Zachary F. Gerring, Remi Stevelink, Samuel F. Berkovic, Ingrid E. Scheffer, Philippa J. Karoly, Melanie Bahlo, Karen L. Oliver   +9 more
wiley   +1 more source

Visuospatial working memory in Huntington's disease: behavioural and structural brain correlates. [PDF]

J Neurol Neurosurg Psychiatry
Lunven M, Van Den Enden P, Gil Salcedo A, Pertzov Y, Bapst B, Youssov K, Morgado G, Busse M, Massart R, Rosser A, Bachoud-Lévi AC.   +10 more
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source

Human cortex organizes dynamic co-fluctuations along the sensorimotor-association axis. [PDF]

Nat Commun
Jin DZ, Zhou C, Zuo XN, Faskowitz J, Xu T, He Y.   +5 more
europepmc   +1 more source

Non-coding RNAs as regulators of chromosomal instability in breast cancer. [PDF]

Front Oncol
Pinilla-Peña D, Niño-Salgado A, Rondón-Lagos M.   +2 more
europepmc   +1 more source