Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

le Barbaro, Michela, Cook, Jackie, Lagerstedt-Robinson, Kristina, Wedell, Anna
Foilsithe 2012

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

le Beleza-Meireles, Ana, Barbaro, Michela, Wedell, Anna, Töhönen, Virpi, Nordenskjöld, Agneta
Foilsithe 2007

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

le Andréasson, Mattias, Zetterström, Rolf H., von Döbeln, Ulrika, Wedell, Anna, Svenningsson, Per
Foilsithe in Int J Mol Sci (2019)

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

le Falhammar, Henrik, Nyström, Helena Filipsson, Ekström, Urban, Granberg, Seth, Wedell, Anna, Thorén, Marja
Foilsithe 2012

SUV3 helicase is required for correct processing of mitochondrial transcripts

le Clemente, Paula, Pajak, Aleksandra, Laine, Isabelle, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Foilsithe in Nucleic Acids Res (2015)

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014

le Ohlsson, Annika, Bruhn, Helene, Nordenström, Anna, Zetterström, Rolf H., Wedell, Anna, von Döbeln, Ulrika
Foilsithe in JIMD Rep (2016)

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

le Stödberg, Tommy, Magnusson, Måns, Lesko, Nicole, Wredenberg, Anna, Martin Munoz, Daniel, Stranneheim, Henrik, Wedell, Anna
Foilsithe in Neurol Genet (2020)

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

le Calvo-Garrido, Javier, Winn, Dania, Maffezzini, Camilla, Wedell, Anna, Freyer, Christoph, Falk, Anna, Wredenberg, Anna
Foilsithe in STAR Protoc (2021)

Loqusdb: added value of an observations database of local genomic variation

le Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Foilsithe in BMC Bioinformatics (2020)

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

le Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Foilsithe in Epilepsia (2020)

Normal Sexual Development and Fertility in testatin Knockout Mice

le Töhönen, Virpi, Frygelius, Jessica, Mohammadieh, Majid, Kvist, Ulrik, Pelliniemi, Lauri J., O'Brien, Kevin, Nordqvist, Katarina, Wedell, Anna
Foilsithe 2005

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

le Bratic, Ana, Clemente, Paula, Calvo-Garrido, Javier, Maffezzini, Camilla, Felser, Andrea, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Foilsithe in PLoS Genet (2016)

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits

le Schober, Florian A., Atanassov, Ilian, Moore, David, Calvo-Garrido, Javier, Moedas, Marco F., Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Foilsithe in Mol Cell Proteomics (2021)

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

le Barbaro, Michela, Balsamo, Antonio, Anderlid, Britt Marie, Myhre, Anne Grethe, Gennari, Monia, Nicoletti, Annalisa, Pittalis, Maria Carla, Oscarson, Mikael, Wedell, Anna
Foilsithe 2009

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

le Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Foilsithe in Front Neurol (2021)

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

le Sörensen, Lene, von Döbeln, Ulrika, Åhlman, Henrik, Ohlsson, Annika, Engvall, Martin, Naess, Karin, Backman-Johansson, Carolina, Nordqvist, Yvonne, Wedell, Anna, Zetterström, Rolf H.
Foilsithe in Int J Neonatal Screen (2020)

RNA modification landscape of the human mitochondrial tRNA(Lys) regulates protein synthesis

le Richter, Uwe, Evans, Molly E., Clark, Wesley C., Marttinen, Paula, Shoubridge, Eric A., Suomalainen, Anu, Wredenberg, Anna, Wedell, Anna, Pan, Tao, Battersby, Brendan J.
Foilsithe in Nat Commun (2018)

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

le Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Foilsithe in JIMD Rep (2019)

FBXL4 deficiency increases mitochondrial removal by autophagy

le Alsina, David, Lytovchenko, Oleksandr, Schab, Aleksandra, Atanassov, Ilian, Schober, Florian A, Jiang, Min, Koolmeister, Camilla, Wedell, Anna, Taylor, Robert W, Wredenberg, Anna, Larsson, Nils‐Göran
Foilsithe in EMBO Mol Med (2020)

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

le Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Foilsithe in J Inherit Metab Dis (2016)