Results 251 to 260 of about 114,341 (299)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Nutraceutical market in India: Thoughts on a right-based regulatory approach.

Indian J Pharmacol
Haripriya G, Harigovind PC, Sankar UV.
europepmc   +1 more source

Thermospermine drives dual-action ribosomes to shape plant xylem development. [PDF]

Trends Biochem Sci
Wu HL, Hsu PY.
europepmc   +1 more source

Segmental composition and nerve distribution of the brachial plexus in Galictis cuja

The Anatomical Record, EarlyView.
Abstract Galictis cuja is a neotropical mustelid with terrestrial locomotor habits, yet the anatomy of its brachial plexus has remained undescribed. This study characterizes the origin, organization, and distribution of the brachial plexus nerves in 15 adult specimens (30 antimeres).
Natan da Cruz de Carvalho, Thais Mattos Estruc, Ingrid Bete Palmeira, Julia Fagundes Franco, Emillin Reis Bermudez, Paulo de Souza‐Junior, Marcelo Abidu‐Figueiredo   +6 more
wiley   +1 more source

Conscience clause in emergency contraception: professional uncertainty, attitudes, and regulatory preferences among pharmacists and pharmacy students. A cross-sectional study. [PDF]

Front Pharmacol
Czekajewska J, Walkowiak D, Jelińska A, Domaradzki J.   +3 more
europepmc   +1 more source

Distinct Molecular Pathways Supporting Sjögren Disease Clusters and Disease Progression

Arthritis &Rheumatology, EarlyView.
Objective Sjögren disease (SjD) is a heterogeneous autoimmune disease. We aimed to investigate blood transcriptomic signatures and disease progression among three recently defined clusters of patients with SjD: (1) B cell active disease with low symptom burden (BALS), (2) high systemic activity (HSA), and (3) low systemic activity with high symptom ...
Sacha E. Silva‐Saffar, Yann Nguyen, Raphaèle Seror, Jacques‐Eric Gottenberg, Anna Niarakis, Xavier Mariette, Gaetane Nocturne   +6 more
wiley   +1 more source

Toward a necessary right to self-representation in European civil law. [PDF]

Front Sociol
Rivero Silva S.
europepmc   +1 more source

Peer Attachment and Prosocial Behavior: The Mediating Role of Positive Legal Emotion and the Moderating Effect of Social Exclusion. [PDF]

Behav Sci (Basel)
Sun W, Xu S.
europepmc   +1 more source

Functions and optimization of soft law in the international governance of synthetic biology: The predicament of hard law vs. the rise of soft law. [PDF]

Synth Syst Biotechnol
Qin Y, Hu J, Su K.
europepmc   +1 more source