Results 171 to 180 of about 123,930 (250)

Transorbital Resection of an Optic Nerve Glioma with Severe Proptosis: Technical Note. [PDF]

J Neurol Surg Rep
Binello E, Devaiah A, Distefano A.
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

An Automation Platform for the Chemoenzymatic Synthesis of Complex Sulfated and Branched Glycans. [PDF]

J Am Chem Soc
Chakraborty S, Minder K, Prudden AR, Boons GJ.   +3 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

From bedside to bench: A multimodal approach uncovering the molecular basis of the <i>MYBPC1</i>-linked Myotrem myopathy. [PDF]

Proc Natl Acad Sci U S A
Iyer AS, Wright NT, Cook ME, Takagi Y, Johnson BA, Biancalana V, Massier M, Spodenkiewicz M, Poirsier C, Vallecillo B, Constant Boyer F, Pineau C, Hensley L, Sellers JR, Varney KM, Weber DJ, Kontrogianni-Konstantopoulos A.   +16 more
europepmc   +1 more source

Slow Fashion Movement : An Exploratory Study of Slow Fashion: Opportunities and Restraints within the Fast Fashion Industry

, 2019
Tinmark, Felicia, Persson, Sigrid, Grenthe, Amanda   +2 more
openaire   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen   +10 more
wiley   +1 more source

An Automated Workflow for Diagnosing Sampling Issues Caused by Slow Torsional Motions in Molecular Simulations. [PDF]

J Chem Inf Model
Osato M, Dabbous T, Mobley DL.
europepmc   +1 more source

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

Two-Day Mohs Excision of Large Scalp Dermatofibrosarcoma Protuberans Reconstructed With a Rotation Flap. [PDF]

Cureus
De Guzman J, Makhzoumi Z, Silverman RP.
europepmc   +1 more source