Results 261 to 270 of about 9,504,025 (387)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Bioprinting of GelMA/PEGDA Hybrid Bioinks for SH-SY5Y Cell Encapsulation: Role of Molecular Weight and Concentration. [PDF]

Macromol Biosci
Yue H, Wang Y, Fernandes S, Vyas C, Bartolo P.   +4 more
europepmc   +1 more source

Molecular Weight and Molecular Weight Distribution for Biopolymers

, 2017
M. Kasaai
semanticscholar   +1 more source

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing, Imis Dogan, Rena Theda Overbeck, Kathrin Reetz, Sandro Romanzetti   +4 more
wiley   +1 more source

Safety and Efficacy of a "High and Low Molecular Weight Hyaluronic Acid Hybrid Complex" Injection for Face Rejuvenation. [PDF]

J Cosmet Dermatol
Yazdanparast T, Ayatollahi A, Samadi A, Sabzvari A, Kafi H, Firooz A.   +5 more
europepmc   +1 more source

Low molecular weight heparin

Reactions weekly, 2014
Jack Hirsh, Mark N. Levine
semanticscholar   +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

Tuning 2,3-Bis(arylimino)butane-nickel Precatalysts for High-Molecular-Weight Polyethylene Elastomers. [PDF]

Molecules
Zhu D, Jia D, Zhang Q, Ma Y, Mahmood Q, Sun WH.   +5 more
europepmc   +1 more source

Tissue integrity signals communicated by high-molecular weight hyaluronan and the resolution of inflammation

Immunologic research, 2014
S. Ruppert, T. Hawn, A. Arrigoni, T. Wight, P. Bollyky   +4 more
semanticscholar   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source