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

por Barbaro, Michela, Cook, Jackie, Lagerstedt-Robinson, Kristina, Wedell, Anna
Publicado 2012

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

por Beleza-Meireles, Ana, Barbaro, Michela, Wedell, Anna, Töhönen, Virpi, Nordenskjöld, Agneta
Publicado 2007

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

por Andréasson, Mattias, Zetterström, Rolf H., von Döbeln, Ulrika, Wedell, Anna, Svenningsson, Per
Publicado 2019

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathi...

por Henry, Olivia J., Stödberg, Tommy, Båtelson, Sofia, Rasi, Chiara, Stranneheim, Henrik, Wedell, Anna
Publicado 2023

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

por Falhammar, Henrik, Nyström, Helena Filipsson, Ekström, Urban, Granberg, Seth, Wedell, Anna, Thorén, Marja
Publicado 2012

SUV3 helicase is required for correct processing of mitochondrial transcripts

por Clemente, Paula, Pajak, Aleksandra, Laine, Isabelle, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2015

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

por Stödberg, Tommy, Magnusson, Måns, Lesko, Nicole, Wredenberg, Anna, Martin Munoz, Daniel, Stranneheim, Henrik, Wedell, Anna
Publicado 2020

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

por Calvo-Garrido, Javier, Winn, Dania, Maffezzini, Camilla, Wedell, Anna, Freyer, Christoph, Falk, Anna, Wredenberg, Anna
Publicado 2021

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study

por Stödberg, Tommy, Tomson, Torbjörn, Anderlid, Britt‐Marie, Andersson, Tomas, Henry, Olivia, Åmark, Per, Wedell, Anna
Publicado 2022

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

por Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Publicado 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

por Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Publicado 2020

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

por Bratic, Ana, Clemente, Paula, Calvo-Garrido, Javier, Maffezzini, Camilla, Felser, Andrea, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2016

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

por Schober, Florian A., Atanassov, Ilian, Moore, David, Calvo-Garrido, Javier, Moedas, Marco F., Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2021

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

por Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik
Publicado 2022

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

por Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Publicado 2021

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

por Vaz, Raquel, Wincent, Josephine, Elfissi, Najla, Rosengren Forsblad, Kristina, Pettersson, Maria, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Lindstrand, Anna, Ygberg, Sofia
Publicado 2022

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

por Sörensen, Lene, von Döbeln, Ulrika, Åhlman, Henrik, Ohlsson, Annika, Engvall, Martin, Naess, Karin, Backman-Johansson, Carolina, Nordqvist, Yvonne, Wedell, Anna, Zetterström, Rolf H.
Publicado 2020

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

por Richter, Uwe, Evans, Molly E., Clark, Wesley C., Marttinen, Paula, Shoubridge, Eric A., Suomalainen, Anu, Wredenberg, Anna, Wedell, Anna, Pan, Tao, Battersby, Brendan J.
Publicado 2018

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

por Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Publicado 2019

FBXL4 deficiency increases mitochondrial removal by autophagy

por 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
Publicado 2020