A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

Autor: Imogen J. Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M. José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron M. Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke H. H. Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D. Rohrer

Publikováno v: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number

Externí odkaz: https://doaj.org/article/1d7c751ac55c494a90e49ef788756561

Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

Autor: Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann

Publikováno v: BMC Neurology, Vol 22, Iss 1, Pp 1-13 (2022)

Abstract Background Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics,

Externí odkaz: https://doaj.org/article/66b1b6d33c6b477c9c6ba3da3b63921c

Association between PSEN1 p.E318G Variant and APOE Polymorphism and Alzheimer Disease in Turkish Patients

Autor: Gamze Güven, Haşmet Hanağası, Ebba Lohmann, Nihan Erginel Ünaltuna, Rukiye Aslan, Çağla Dönmez, Başar Bilgiç

Publikováno v: Türk Nöroloji Dergisi, Vol 27, Iss 2, Pp 117-122 (2021)

Objective: Mutations in the Presenilin-1 (PSEN1) gene have been associated with early-onset familial Alzheimer disease (AD) and these mutations usually exhibit full penetrance. However, the p.E318G variant located at exon 9 of PSEN1 is an exception.

Externí odkaz: https://doaj.org/article/b5f0304f77284c099b26b2d9cce5f878

The association of serum clusterin levels and Clusterin rs11136000 polymorphisms with Alzheimer disease in a Turkish cohort

Autor: Gamze Guven, Ebru Ozer, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Ebba Lohmann, Nihan Erginel-Unaltuna

Publikováno v: Neurological Sciences and Neurophysiology, Vol 37, Iss 3, Pp 134-140 (2020)

Objectives: Several large-scale genome association studies have shown that variants in the “Clusterin”' (CLU) gene are important risk factors for Alzheimer's disease (AD). It has also been shown that plasma CLU levels were elevated in patients wi

Externí odkaz: https://doaj.org/article/c0e97c767c7b4f3bb106637dbfd735ab

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Autor: Michaela Pogoda, Franz-Joachim Hilke, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Stephan Ossowski, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Sven Poths, Olaf Riess, Christopher Schroeder, Kathrin Grundmann

Publikováno v: Frontiers in Neurology, Vol 10 (2019)

Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening.Methods: Single molecule Molecular

Externí odkaz: https://doaj.org/article/e7f0cd3231994d70b7bd7f288f807b42