Results 161 to 170 of about 277,046 (301)

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis. [PDF]

Orphanet J Rare Dis
Liu X, Li X, Yao X, Zhu G, Guo X, He W, Hu L, Yang G.   +7 more
europepmc   +1 more source

Lifestyle Management in Menopause: A Systematic Review of Women With Premature Ovarian Insufficiency

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Premature ovarian insufficiency (POI), the loss of ovarian function before age 40, increases the risk of cardiovascular disease, low bone mineral density, dementia and psychological distress. Lifestyle interventions reduce chronic disease risk in other populations and, with hormone therapy, may improve health outcomes in POI.
Ladan Yeganeh, Nathalie Vermeulen, Carolyn Ee, Helena Teede, Amanda J. Vincent   +4 more
wiley   +1 more source

Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China. [PDF]

J Clin Med
Zhou Y, Hao Z, Zhuang Q, Han B.
europepmc   +1 more source

ERT

Indústrias Culturais, 2013
openaire   +1 more source

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis. [PDF]

JIMD Rep
Cohen JL, Beaman MM, Rodriguez-Rassi E, Stafford VG, Smith PB, Landstrom AP, Kishnani PS.   +6 more
europepmc   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Integration of ERT and Geotechnical Investigation for River Restoration: A Case Study of Dam Removal Site Characterization. [PDF]

Environ Manage
Rahimi M, Wood CM, Befus KM, Holt JJ, Thompson G, Fathizadeh M.   +5 more
europepmc   +1 more source

Trust and fairness in platform–supplier contracts: Navigating supplier concerns in the sharing economy

Decision Sciences, EarlyView.
Abstract Trust and fairness are critical to the sustainable development of the sharing economy, particularly in platform–supplier relationships, where numerous individual suppliers offer access to their durable assets without transferring ownership. Motivated by the real‐world phenomenon of personalized wages and informed through direct interactions ...
Ying Yin, Xishu Li
wiley   +1 more source

Nonmarket strategies, domestic institutional development, and internationalization: Evidence from MENA and sub‐Saharan African regions

European Management Review, EarlyView.
Abstract This study examines the impact of the adoption of nonmarket strategies in domestic markets that drive the internationalization of emerging multinationals (EMNCs) from the MENA and sub‐Saharan African regions. In this study, we consider corporate political activity (CPA) and corporate social responsibility (CSR) of EMNCs and examine their role ...
Nouhaila Ettalibi, Muhammad Saad Baloch, Abubakr Saeed, Hamad Aldawsari, Faris Alzughaibi   +4 more
wiley   +1 more source