Results 101 to 110 of about 3,235,381 (341)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Spin-Isospin Excitations and Muon Capture by Nuclei

, 2005
By analyzing the energy-weighted moments of the strength function calculated in RPA and beyond it is shown that the explanation of the effect of missing strength of Gamow-Teller transitions requires that residual interaction produce high-excited $1 ...
Livius Trache, Sabin Stoica, T. V. Tetereva, V. A. Kuz'min   +3 more
core   +1 more source

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks, Anna Wolska, Diala Ghazal, Dejan Jakimovski, Bianca Weinstock‐Guttman, Alexander Burnham, Niels Bergsland, Michael G. Dwyer, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +10 more
wiley   +1 more source

Random Matrices and Chaos in Nuclear Physics: Nuclear Reactions

, 2010
The application of random-matrix theory (RMT) to compound-nucleus (CN) reactions is reviewed. An introduction into the basic concepts of nuclear scattering theory is followed by a survey of phenomenological approaches to CN scattering. The implementation
Mitchell, G. E., Richter, A., Weidenmueller, H. A.   +2 more
core   +1 more source

Physician Referral Patterns to Physical Therapists for Managing Knee Osteoarthritis: A Retrospective Analysis of Electronic Health Records from an Integrated Health System

Arthritis Care &Research, Accepted Article.
Objectives This study aims to describe the frequency and timing of physician referrals to physical therapists (PT) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja, Joel M. Stevans, Gustavo J. Almeida, Clair Smith, Janet K. Freburger   +4 more
wiley   +1 more source

Perspectives of Nuclear Physics in Europe: NuPECC Long Range Plan 2010 [PDF]

, 2010
The goal of this European Science Foundation Forward Look into the future of Nuclear Physics is to bring together the entire Nuclear Physics community in Europe to formulate a coherent plan of the best way to develop the field in the coming decade and ...
Bracco, A., Chomaz, P., Gaardhøje, J.J., Heenen, P.-H., Kaiser, R., Korner, G.E., MacGregor, D., Makarow, M., Rosner, G., Widmann, E.   +9 more
core  

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, Accepted Article.
Background Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

An updated nuclear-physics and multi-messenger astrophysics framework for binary neutron star mergers. [PDF]

Nat Commun, 2023
Pang PTH, Dietrich T, Coughlin MW, Bulla M, Tews I, Almualla M, Barna T, Kiendrebeogo RW, Kunert N, Mansingh G, Reed B, Sravan N, Toivonen A, Antier S, VandenBerg RO, Heinzel J, Nedora V, Salehi P, Sharma R, Somasundaram R, Van Den Broeck C.   +20 more
europepmc   +1 more source