Results 41 to 50 of about 8,430 (252)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

ARNOLD SCHÖNBERG’S RECORD COLLECTION AT THE ARNOLD SCHÖNBERG CENTER, WIEN

Studia Universitatis Babeş-Bolyai. Musica
This paper examines Arnold Schönberg’s record collection, held at the archives of the Arnold Schönberg Center. Transferred by the Austrian Media Library, it is now successively made available through the audio database of the Arnold Schönberg Center ...
Eike FEß
doaj   +1 more source

All different, all equal: changing basic principles of the authority control

Knjižnica, 2001
To enable the collocation function of the catalogue, the uniform heading was introduced by the Paris Principles, and later on became one of the key elements for the Universal Bibliographic Control project.
Zlata Dimec
doaj   +1 more source

Cataloguing Remains an Important Skill at Public Libraries in the Modern Metadata Landscape of Norway

Evidence Based Library and Information Practice, 2020
A Review of: Preminger, M., Rype, I., Ådland, M.K., Massey, D., & Tallerås, K. (2020). The public library metadata landscape, the case of Norway 2017–2018. Cataloging & Classification Quarterly, 58(2), 127–148.
Jordan Patterson
doaj   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Ephemera publications as legal deposit in National and University library, Slovenia

Knjižnica, 2010
The Slovenian production of all categories of library resources has been considerably increased over the last decade and ephemera comprise a large portion of the national output. The article explores some definitions of ephemera especially those given in
Veronika Potočnik
doaj   +1 more source

The Renal Activity Index for Lupus Identifies Active Renal Disease and Treatment Response in Adult Patients With Systemic Lupus Erythematosus and Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner, Ellen M. Cody, Prasad Devarajan, Bin Huang, Chen Chen, Dominic Sinibaldi, Madhu Ramaswamy, Jacob Knagenhjelm, Frederick Jones, Philip Z. Brohawn, Raj Tummala, Catharina Lindholm, Wendy I. White   +12 more
wiley   +1 more source

Cataloguing older monographic publications in the National and university library: cataloguer’s experience

Knjižnica, 2008
The article describes the practice of cataloguing older monographic publications in the National and University Library, Ljubljana, Slovenia. The specific characteristics of this material, modes of acquisition, processing and preservation are presented ...
Jasna Hrovat
doaj   +1 more source