Results 131 to 140 of about 43,496 (257)

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

Penetrating Foot Injury Caused by a Retained Wood Screw: A Case Report. [PDF]

Cureus
Szymkiewicz S.
europepmc   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

After forty-eight years: An enigmatic new wormlion fly from Xizang, China (Diptera, Vermileonidae). [PDF]

Zookeys
Shan LX, Wang JS.
europepmc   +1 more source

Enabling the study of gene function in gymnosperms: Virus‐induced gene silencing in Ephedra tweedieana

Applications in Plant Sciences, EarlyView.
Abstract Premise As the sister clade to angiosperms, extant gymnosperms are crucial for reconstructing ancestral gene regulatory networks in seed plants. This highlights the need for model systems representing each of their distinct lineages. However, tools to quickly and effectively investigate gene function in gymnosperms are still limited due to the
Anthony G. K. Garcia, Jo Trang Bùi, Todd P. Michael, Stefanie M. Ickert‐Bond, Verónica S. Di Stilio   +4 more
wiley   +1 more source

Oncoplastic chest masculinization using lateral thoracic adipofascial flaps after risk-reducing mastectomy. [PDF]

JPRAS Open
Hassan AM, Ruiz-Medina PE, Simcox OR, Fisher CS, Hadad I.   +4 more
europepmc   +1 more source

The morphology of the oval window in Paranthropus robustus compared to humans and other modern primates

The Anatomical Record, EarlyView.
Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley   +1 more source

Dynamic changes to the tibiofemoral joint line with increasing osteoarthritis severity and its relationship to constitutional alignment : a radiological analysis of 3,320 knees. [PDF]

Bone Jt Open
Farey JE, Leong BJ, Wood JA, Lee DW, Kim S, Chen DB, Ro DH, MacDessi SJ.   +7 more
europepmc   +1 more source

Lagomorph cranial biomechanics and the functional significance of the unique fenestrated rostrum of leporids

The Anatomical Record, EarlyView.
Abstract The crania of leporid lagomorphs are uniquely fenestrated, including the posterior cranial bones and the lateral portion of the maxilla. The functional significance of the highly fenestrated rostrum has received considerably little attention, despite being absent in other mammalian herbivores with a long rostrum.
Amber P. Wood‐Bailey, Alana C. Sharp
wiley   +1 more source

When Infection Masquerades as Malignancy: Fatal Basidiobolomycosis Presenting as Suspected Rhabdomyosarcoma in a Child. [PDF]

Case Rep Pediatr
Amoako E, Jimah BB, Tagoe LG, Taylor RR, Awuku L, Lomotey P, Bockarie Y, Ulzen-Appiah K, Sarkodie BD, Inkoom L.   +9 more
europepmc   +1 more source