Results 201 to 210 of about 2,813,819 (368)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Computational Studies of Chiral Epoxide Radicals. [PDF]

J Org Chem
Morgan KM, Brown LA, Cole CC, Cooper GK, Nealy A, Seltzer D.   +5 more
europepmc   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Electrochemical Single-Carbon Insertion via Distonic Radical Cation Intermediates. [PDF]

J Am Chem Soc
Morimoto T, Nishimoto Y, Suzuki-Osborne T, Chong SG, Okamoto K, Yoneda T, Kikuchi A, Yokogawa D, Atobe M, Shida N.   +9 more
europepmc   +1 more source

Medication Use in Multiple Sclerosis: A Population‐Based Comparison With the General Danish Population

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease‐modifying therapies. Methods We conducted a nationwide, registry‐based study in Denmark.
Josefine Windfeld‐Mathiasen, Henrik Horwitz, Ida M. Heerfordt, Elisabeth Framke, Melinda Magyari   +4 more
wiley   +1 more source

Synthesis of 5-(pyrazol-4-yl) pentanoic acids and 4-(pyrazol-4-yl) butanoic acids <i>via</i> a cascade annulation/ring-opening reaction between hydrazone and dienone. [PDF]

RSC Adv
Nayak KH, Jijin RK, Babu BP.
europepmc   +1 more source

Mesomerism, Ring & Substituent Effects, A Computational Chemistry Experiments

, 2016
Djameleddine Khatmi, Yannick Carissan, Denis Hagebaum‐Reignier, Nicolas Goudard, Stéphane Humbel   +4 more
openalex   +2 more sources

RECENT ADVANCES IN THE CHEMISTRY OF BITTER PRINCIPLES CONTAINING β-SUBSTITUTED FURAN RING [PDF]

, 1960
DR. P. K. BOSE, D.Sc. F.N.l.
openalex   +1 more source

Serum uric acid levels in older adults: Associations with clinical outcomes and implications for reference intervals in those aged 70 years and over

Arthritis Care &Research, Accepted Article.
Objectives Reports have linked both high and low serum uric acid (SUA) levels to adverse health outcomes. This study aimed to establish a reference interval for SUA in older adults and assessed its association with clinically relevant outcomes in relatively healthy, community‐dwelling individuals aged 70 and older.
Amanda J Rickard, Cammie Tran, Hans G Schneider, Flavia M Cicuttini, Anita E Wluka, Ego Seeman, Johannes T Neumann, Md Nazmul Karim, Zhen Zhou, Sultana Monira Hussain, David P Q Clark, Daniel Clayton‐Chubb, Andrew M Tonkin, Lawrence J Beilin, Robyn L Woods, John J McNeil   +15 more
wiley   +1 more source

A Palladium-Catalyzed Cascade Double Annulation Strategy for Modular Access to Dihydrocyclopenta[<i>b</i>]chromenes. [PDF]

Org Lett
Liu Y, Choy PY, Tang Q, Wu M, Kong Y, Shang Y, Kwong FY, He X.   +7 more
europepmc   +1 more source