Results 261 to 270 of about 80,852 (330)

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring, Enya Abler, Jakub Vavra, Kristina Mayer, Johannes Dorst, Zeynep Elmas, Maximilian Wiesenfarth, Lars Richter, Susanne Petri, Martin Regensburger, Peter Reilich, Bogdan Bjelica, Rea Lumi, Patrick Süß, Hayrettin Tumani, Markus Otto, Jochen H. Weishaupt, Albert C. Ludolph, Patrick Oeckl   +18 more
wiley   +1 more source

Genome sequencing reveals genes under selection for olfactory transduction in highland sheep. [PDF]

Mol Genet Genomics
Ahmad A, Ibrahim M, Yaqoob M, Fahim M, Khan SH, Din IU, Khan M, Ahmad S.   +7 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Haemophilia A in a Female German Shepherd With Homozygosity for the FVIII p.C567Y Variant in Exon 11 of the F8 Gene. [PDF]

Anim Genet
Brenig B, Pach S.
europepmc   +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola, Maija Saraste, Edoardo Pedrini, Joel Tuomaala, Luzia Buchholz, Markus Matilainen, Johanna Lindenberg, Eeva‐Christine Brockmann, Maria Sofia Martire, Sofia Sandgren, David Leppert, Jens Kuhle, Tanja Kuhlmann, Martina Absinta, Laura Airas   +14 more
wiley   +1 more source

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]

Front Med (Lausanne)
Wang H, Xing W.
europepmc   +1 more source

Genetic Diversity and Population Structure of Two Mexican Creole Cattle Populations. [PDF]

Animals (Basel)
Michel-Regalado NG, Lemus-Flores C, Ayala-Valdovinos MÁ, Grageola-Núñez F, Severino-Lendechy VH, Duifhuis-Rivera T, Martínez-Velázquez G, Lemus-Ávalos G, Lara-Castillo JB.   +8 more
europepmc   +1 more source

Inbreeding depression in diploid potato: genetic basis, deleterious load, and breeding mitigation. [PDF]

Front Plant Sci
Wang Y, Lin T, Wang W, Wang Y, Fan L, Huang W, Jiao X, Wang Z, Wu H, Zong X, Zheng A, Yang F, Zhang B, Yu J, Chen J, Yin Y.   +15 more
europepmc   +1 more source

Amyloidosis secondary to familial Mediterranean fever: machine learning-based prediction models. [PDF]

Rheumatology (Oxford)
Aktas B, Azman E, Oner YE, Kaya K, Yuksel HM, Hosgel A, Karahan KD, Coban ZB, Parlar K, Kilinc OC, Acar B, Ugurlu S.   +11 more
europepmc   +1 more source

Haemochromatosis - a modern clinician's guide. [PDF]

Intern Med J
Fiori JG, Olynyk JK.
europepmc   +1 more source