Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

por Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank J, Depienne, Christel, Pearson, Christopher E, Westenberger, Ana, Klein, Christine
Publicado 2022

Cancer meets neuroscience: the association between glioma occurrence and intrinsic brain features

por Douw, Linda, Breedt, Lucas C, Zimmermann, Mona L M
Publicado 2023

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

por Løseth, Sissel, Høyer, Helle, Le, Kim-Mai, Delpire, Eric, Kinge, Einar, Lande, Asgeir, Hilmarsen, Hilde Tveitan, Fagerheim, Toril, Nilssen, Øivind, Braathen, Geir Julius
Publicado 2022

The spectrum of disease and tau pathology of nodding syndrome in Uganda

por Pollanen, Michael S, Onzivua, Sylvester, McKeever, Paul M, Robertson, Janice, Mackenzie, Ian R, Kovacs, Gabor G, Olwa, Francis, Kitara, David L, Fong, Amanda
Publicado 2022

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

por Pujol, Claire, Lebigot, Elise, Gaignard, Pauline, Galai, Said, Kraoua, Ichraf, Bault, Jean-Philippe, Dard, Rodolphe, Youssef-Turki, Ilhem Ben, Omar, Souheil, Boutron, Audrey, Wai, Timothy, Slama, Abdelhamid
Publicado 2022

Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy

por McLeod, Faye, Dimtsi, Anna, Marshall, Amy C, Lewis-Smith, David, Thomas, Rhys, Clowry, Gavin J, Trevelyan, Andrew J
Publicado 2022

recountmethylation enables flexible analysis of public blood DNA methylation array data

por Maden, Sean K, Walsh, Brian, Ellrott, Kyle, Hansen, Kasper D, Thompson, Reid F, Nellore, Abhinav
Publicado 2023

The hypergonadotropic hypogonadism conundrum of classic galactosemia

por Derks, Britt, Rivera-Cruz, Greysha, Hagen-Lillevik, Synneva, Vos, E Naomi, Demirbas, Didem, Lai, Kent, Treacy, Eileen P, Levy, Harvey L, Wilkins-Haug, Louise E, Rubio-Gozalbo, M Estela, Berry, Gerard T
Publicado 2022

Plasma biomarker profiles in autosomal dominant Alzheimer’s disease

por Johansson, Charlotte, Thordardottir, Steinunn, Laffita-Mesa, José, Rodriguez-Vieitez, Elena, Zetterberg, Henrik, Blennow, Kaj, Graff, Caroline
Publicado 2023

Blood–brain barrier permeable β-blockers linked to lower risk of Alzheimer’s disease in hypertension

por Beaman, Emily Eufaula, Bonde, Anders Nissen, Larsen, Sara Marie Ulv, Ozenne, Brice, Lohela, Terhi Johanna, Nedergaard, Maiken, Gíslason, Gunnar Hilmar, Knudsen, Gitte Moos, Holst, Sebastian Camillo
Publicado 2022

Transcriptomic and connectomic correlates of differential spatial patterning among gliomas

por Romero-Garcia, Rafael, Mandal, Ayan S, Bethlehem, Richard A I, Crespo-Facorro, Benedicto, Hart, Michael G, Suckling, John
Publicado 2022

A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

por Strippel, Christine, Herrera-Rivero, Marisol, Wendorff, Mareike, Tietz, Anja K, Degenhardt, Frauke, Witten, Anika, Schroeter, Christina, Nelke, Christopher, Golombeck, Kristin S, Madlener, Marie, Rüber, Theodor, Ernst, Leon, Racz, Attila, Baumgartner, Tobias, Widman, Guido, Doppler, Kathrin, Thaler, Franziska, Siebenbrodt, Kai, Dik, Andre, Kerin, Constanze, Räuber, Saskia, Gallus, Marco, Kovac, Stjepana, Grauer, Oliver M, Grimm, Alexander, Prüss, Harald, Wickel, Jonathan, Geis, Christian, Lewerenz, Jan, Goebels, Norbert, Ringelstein, Marius, Menge, Til, Tackenberg, Björn, Kellinghaus, Christoph, Bien, Christian G, Kraft, Andrea, Zettl, Uwe, Ismail, Fatme Seval, Ayzenberg, Ilya, Urbanek, Christian, Sühs, Kurt-Wolfram, Tauber, Simone C, Mues, Sigrid, Körtvélyessy, Peter, Markewitz, Robert, Paliantonis, Asterios, Elger, Christian E, Surges, Rainer, Sommer, Claudia, Kümpfel, Tania, Gross, Catharina C, Lerche, Holger, Wellmer, Jörg, Quesada, Carlos M, Then Bergh, Florian, Wandinger, Klaus-Peter, Becker, Albert J, Kunz, Wolfram S, Meyer zu Hörste, Gerd, Malter, Michael P, Rosenow, Felix, Wiendl, Heinz, Kuhlenbäumer, Gregor, Leypoldt, Frank, Lieb, Wolfgang, Franke, Andre, Meuth, Sven G, Stoll, Monika, Melzer, Nico
Publicado 2022

Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility

por Ferrer, P, Upadhyay, S, Ikawa, M, Clement, T M
Publicado 2023

Recovered grasping performance after stroke depends on interhemispheric frontoparietal connectivity

por Hensel, Lukas, Lange, Fabian, Tscherpel, Caroline, Viswanathan, Shivakumar, Freytag, Jana, Volz, Lukas J, Eickhoff, Simon B, Fink, Gereon R, Grefkes, Christian
Publicado 2022

The impact of vincristine on testicular development and function in childhood cancer

por Clark, Ioanna, Brougham, Mark F H, Spears, Norah, Mitchell, Rod T
Publicado 2022

In vivo reduction of age-dependent neuromelanin accumulation mitigates features of Parkinson’s disease

por Gonzalez-Sepulveda, Marta, Compte, Joan, Cuadros, Thais, Nicolau, Alba, Guillard-Sirieix, Camille, Peñuelas, Núria, Lorente-Picon, Marina, Parent, Annabelle, Romero-Giménez, Jordi, Cladera-Sastre, Joana M, Laguna, Ariadna, Vila, Miquel
Publicado 2023

SARS-CoV-2, fertility and assisted reproduction

por Ata, Baris, Vermeulen, Nathalie, Mocanu, Edgar, Gianaroli, Luca, Lundin, Kersti, Rautakallio-Hokkanen, Satu, Tapanainen, Juha S, Veiga, Anna
Publicado 2022

Contraceptives and cancer risks in BRCA1/2 pathogenic variant carriers: a systematic review and meta-analysis

por van Bommel, Majke H D, IntHout, Joanna, Veldmate, Guus, Kets, C Marleen, de Hullu, Joanne A, van Altena, Anne M, Harmsen, Marline G
Publicado 2022

Free-water imaging of the cholinergic basal forebrain and pedunculopontine nucleus in Parkinson’s disease

por Ray, Nicola J, Lawson, Rachael A, Martin, Sarah L, Sigurdsson, Hilmar P, Wilson, Joanna, Galna, Brook, Lord, Sue, Alcock, Lisa, Duncan, Gordon W, Khoo, Tien K, O’Brien, John T, Burn, David J, Taylor, John-Paul, Rea, River C, Bergamino, Maurizio, Rochester, Lynn, Yarnall, Alison J
Publicado 2022

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

por Brünger, Tobias, Pérez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Møller, Rikke S, Schorge, Stephanie, Zuberi, Sameer, Symonds, Joseph, Lemke, Johannes R, Brunklaus, Andreas, Traynelis, Stephen F, May, Patrick, Lal, Dennis
Publicado 2022