Search Results - Anna Wedell

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  1. 1

    Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis by Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell

    Published in International Journal of Endocrinology (2012-01-01)
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  2. 2

    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy by Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

    Published in Biomedicines (2022-12-01)
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  3. 3

    Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data by Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström

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  4. 4

    FBXL4 deficiency increases mitochondrial removal by autophagy by David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils‐Göran Larsson

    Published in EMBO Molecular Medicine (2020-06-01)
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  5. 5

    First Year of TREC-Based National SCID Screening in Sweden by Christina Göngrich, Olov Ekwall, Mikael Sundin, Nicholas Brodszki, Anders Fasth, Per Marits, Sam Dysting, Susanne Jonsson, Michela Barbaro, Anna Wedell, Ulrika von Döbeln, Rolf H. Zetterström

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  6. 6

    SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation by Javier Calvo-Garrido, Camilla Maffezzini, Florian A. Schober, Paula Clemente, Elias Uhlin, Malin Kele, Henrik Stranneheim, Nicole Lesko, Helene Bruhn, Per Svenningsson, Anna Falk, Anna Wedell, Christoph Freyer, Anna Wredenberg

    Published in Stem Cell Reports (2019-04-01)
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  7. 7

    Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster by Najla El Fissi, Florian A. Rosenberger, Kai Chang, Alissa Wilhalm, Tom Barton-Owen, Fynn M. Hansen, Zoe Golder, David Alsina, Anna Wedell, Matthias Mann, Patrick F. Chinnery, Christoph Freyer, Anna Wredenberg

    Published in Nature Communications (2024-12-01)
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  8. 8

    Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015–2023 by Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, Helene Bruhn, Martin Engvall, Nicole Lesko, Karin Naess, Mikael Oscarson, Yan Shen, Malin Ueberschär, Anna Wredenberg, Fredrik H. Sterky, Anna Wedell, Rolf H. Zetterström

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  9. 9

    The mitochondrial methylation potential gates mitoribosome assembly by Ruth I. C. Glasgow, Vivek Singh, Lucía Peña-Pérez, Alissa Wilhalm, Marco F. Moedas, David Moore, Florian A. Rosenberger, Xinping Li, Ilian Atanassov, Mira Saba, Miriam Cipullo, Joanna Rorbach, Anna Wedell, Christoph Freyer, Alexey Amunts, Anna Wredenberg

    Published in Nature Communications (2025-06-01)
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  10. 10

    PARKIN is not required to sustain OXPHOS function in adult mammalian tissues by Roberta Filograna, Jule Gerlach, Hae-Na Choi, Giovanni Rigoni, Michela Barbaro, Mikael Oscarson, Seungmin Lee, Katarina Tiklova, Markus Ringnér, Camilla Koolmeister, Rolf Wibom, Sara Riggare, Inger Nennesmo, Thomas Perlmann, Anna Wredenberg, Anna Wedell, Elisa Motori, Per Svenningsson, Nils-Göran Larsson

    Published in npj Parkinson's Disease (2024-04-01)
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  11. 11

    Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease by Sandrina P. Correia, Marco F. Moedas, Lucie S. Taylor, Karin Naess, Albert Z. Lim, Robert McFarland, Zuzanna Kazior, Anastasia Rumyantseva, Rolf Wibom, Martin Engvall, Helene Bruhn, Nicole Lesko, Ákos Végvári, Lukas Käll, Matthias Trost, Charlotte L. Alston, Christoph Freyer, Robert W. Taylor, Anna Wedell, Anna Wredenberg

    Published in JCI Insight (2024-10-01)
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  12. 12

    Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations by Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Àdori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald McInerney, Ben Murrell, Mike Aoun, Liselotte Bäckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach

    Published in JCI Insight (2023-09-01)
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