Results 81 to 90 of about 6,826 (214)

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Translating Biomedical Research to Medical Devices: A Practical Guide and the Arteriovenous Graft Case Study

Advanced NanoBiomed Research, EarlyView.
Despite significant advances, most academic research fails to result in medical products that benefit patients. This guide shares five key steps to help researchers close that gap: set clear goals, test thoroughly, protect ideas, build diverse teams, and partner with industry.
Cristina Oldani, Nina Bono, Alice Caldiroli, Stefania Adele Riboldi, Gabriele Candiani   +4 more
wiley   +1 more source

Gryon ancinla Kozlov & Lê (Hymenoptera: Scelionidae): host association, expanded distribution, redescription and a new synonymy. [PDF]

Biodivers Data J, 2020
Chen H, Talamas EJ, Bon MC, Moore MR.
europepmc   +1 more source

Glyphesis conicus ist ein jüngeres Synonym von Glyphesis taoplesius (Araneae: Linyphiidae)

Arachnologische Mitteilungen, 1996
Blick, Theo, Szinetár, Csaba
doaj   +1 more source

East Asian Cryphalus Erichson (Curculionidae, Scolytinae): new species, new synonymy and redescriptions of species. [PDF]

Zookeys, 2020
Johnson AJ, Li Y, Mandelshtam MY, Park S, Lin CS, Gao L, Hulcr J.   +6 more
europepmc   +1 more source

THE GUATTERIA GROUP DISENTANGLED: SINKING GUATTERIOPSIS, GUATTERIELLA, AND HETEROPETALUM INTO GUATTERIA

Rodriguésia
The Guatteria group (Annonaceae) consists of four genera: Guatteria, Guatteriopsis, Guatteriella, and Heteropetalum. Morphological data have for long suggested a close affinity between these genera.
Roy H. J. Erkens, Paul J. M. Maas
doaj   +1 more source

New record of Nausithoe werneri (Scyphozoa, Coronatae, Nausithoidae) from the Brazilian coast and a new synonymy for Nausithoe maculata. [PDF]

Zookeys, 2020
Molinari CG, Maronna MM, Morandini AC.
europepmc   +1 more source

Assessing the viability of genebanked seeds from rare, wild plants native to the United States using the D.E.A.D. paradigm

Applications in Plant Sciences, EarlyView.
Abstract Premise Genebanks must maintain viable seeds for decades. Seeds that germinate are clearly alive, but some seeds, often from wild populations, do not germinate because they are dormant, empty, aged, or damaged (D.E.A.D.). This work evaluates the effects of D.E.A.D.
Christina Walters, Lisa M. Hill, Katherine D. Heineman, Hannah M. Tetreault, Shaimaa Ibrahim, Katherine Markstein, Cheryl Birker, Kris Freitag, Dustin Wolkis, Michael Kunz, Sheila Murray, Nathaniel Kingsley, Alexandra Seglias, Nicholas Matsumoto, Thomas N. Kaye, Cheryl Peterson, Matthew A. Albrecht, Noah Dell, Stacy Anderson, Steve Blackwell, David Remucal, Wendy Gibble, Anita Tiller, Emily Coffey, Jason Ligon, Laurie Blackmore, Carrie Radcliffe, Heather E. Schneider, Kristen Nelson, David Sollenberger, Jessamine Finch, Kate Wellspring, Robert Jetton, Joyce Maschinski   +33 more
wiley   +1 more source