Results 121 to 130 of about 441,153 (259)

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

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

Prime rings satisfying a generalized polynomial identity

, 1969
Wallace S. Martindale
openalex   +1 more source

Prime rings with maximal annihilator and maximal complement right ideals [PDF]

, 1965
Kwangil Koh, A. C. Mewborn
openalex   +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

A Class of Prime Rings [PDF]

, 1966
Kwangil Koh, A. C. Mewborn
openalex   +1 more source

The Comparative Effectiveness and Tolerability of Sphingosine‐1‐Phosphate Receptor Modulators in Patients With Multiple Sclerosis: A Network Meta‐Analysis of Randomized Controlled Trials

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Sphingosine‐1‐phosphate receptor modulators (S1PRM) are used to treat relapsing multiple sclerosis (MS). Each drug has a different S1PR‐subtype selectivity. They target the G‐protein coupled S1P receptors and exert significant immunomodulatory effects, such as preventing the formation of new CNS lesions and the reactivation of pre ...
Faizan Shahzad, Taimoon Rasheed, Momina Riaz Siddiqui, Hamza Hamid, Marwah Bintay Khalid, Haroon Shabbir, Besher Shami, Abdullah, Syed Ijlal Ahmed   +8 more
wiley   +1 more source

Barriers and Facilitators for Implementing Resilience Coaching for Youth With Chronic Musculoskeletal Pain: Pediatric Rheumatologists’ Perspectives

Arthritis Care &Research, EarlyView.
Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca, Anyun Chatterjee, Mackenzie McGill, Nellie Butler, Katherine S. Kellom, Jami F. Young, Tonya M. Palermo, Pamela F. Weiss, Abby R. Rosenberg, Peter F. Cronholm   +9 more
wiley   +1 more source

Prime matrix rings [PDF]

, 1965
R. E. Johnson
openalex   +1 more source

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source