Results 281 to 290 of about 3,546,472 (360)

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, M. Scoto, A. Sarkozy, P. Munot, S. Robb, E. Chan, V. Robinson, W. Girshab, V. Crook, E. Milev, L. Abbott, A. Wolfe, E. O’Reilly, J. Watts‐Whent, N. Burnett, R. Thomas, R. Terespolsky, O. Martinaeu, J. Longatto, V. Straub, C. Bettolo, M. Guglieri, J. Diaz‐Manera, G. Tasca, M. Elseed, R. Muni‐Lofra, M. James, D. Moat, J. Sodhi, K. Wong, E. Robinson, E. Groves, R. Rabb, D. Parasuraman, H. McMurchie, H. Chase, Tracey Willis, C. Rylance, N. Birchall, E. Wright, A. Childs, K. Pysden, C. Martos, D. Roberts, L. Pallant, S. Walker, A. Henderson, R. Madhu, R. Karuvattil, Y. Balla, S. Gregson, S. Clark, E. Wraige, H. Jungbluth, V. Gowda, M. Vanegas, J. Sheehan, A. Schofield, C. Smith, I. Hughes, E. Whitehouse, S. Warner, E. Reading, N. Emery, J. Moustoukas, K. Strachan, M. Ong, M. Atherton, N. Mills, S. Sanchez Marco, A. Saxena, K. Skone, J. TeWaterNaude, H. Davis, C. Wood, A. Majumdar, A. Murugan, I. Guarino, R. Tomlinson, H. Jarvis, L. Wills, C. Frimpong, J. Watson, G. Cobb, G. Robertson, P. Brink, J. Burslem, C. Adams, J. Wong, S. Joseph, I. Horrocks, J. Dunne, M. DiMarco, S. Brown, S. McKenzie, K. Torne, R. Mohamed, V. Velmurugan, M. Prasad, S. Sedehizadeh, A. Schugal, R. Keetley, S. Williamson, K. Payne, E. Dowling, P. Fenty, C. de Goede, A. Parkes, K. Baxter, M. Illingworth, N. Bhangu, S. Geary, J. Palmer, K. Shill, S. Tirupathi, A. Shah, D. O’Donogue, J. McVeigh, J. McFetridge, G. Nicfhirleinn, H. Beattie, T. Leyland, K. Stevenson, N. Hussain, D. Baskaran, Z. Lambat, R. Sullivan, L. Locke, G. Ambegaonkar, D. Krishnakumar, J. Taylor, J. Moores, E. Stephen, J. Tewnion, S. Ramdas, M. Sa, A. Skippen, M. Khries, C. Lilien, H. Ramjattan, F. Taylor, H. English, K. Stewart, F. Flint, E. Bartram, R. Noble, Francesco Muntoni   +152 more
wiley   +1 more source

Generative artificial intelligence based models optimization towards molecule design enhancement. [PDF]

J Cheminform
Khater T, Alkhatib SA, AlShehhi A, Pitsalidis C, Pappa AM, Ngo ST, Chan V, Truong VK.   +7 more
europepmc   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Unraveling Spatial Patterns and Drivers of Fish Ecological Uniqueness in Subtropical Streams. [PDF]

Ecol Evol
Qiao J, Chu L, Li Y, Chu T, Xie N, Yan Y.   +5 more
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Continuity up to the boundary for minimizers of the one-phase Bernoulli problem. [PDF]

Calc Var Partial Differ Equ
Fernández-Real X, Gruen F.
europepmc   +1 more source

The Road Not Taken: Misclassifying an Anti‐Seizure Medication as a Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify how often anti‐seizure medications (ASMs) appear ineffective yet provide benefit when considering seizure frequency (SF) variability. Methods We used the CHOCOLATES seizure diary simulator to generate 100,000 patient seizure diaries that reflect natural SF variation in a heterogeneous population.
Christopher N. Henry, Daniel M. Goldenholz   +1 more
wiley   +1 more source

Exploiting uniqueness: seed-chain-extend alignment on elastic founder graphs. [PDF]

Bioinformatics
Rizzo N, Cáceres M, Mäkinen V.
europepmc   +1 more source

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source