2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

Por Kanavin, Oivind J, Woldseth, Berit, Jellum, Egil, Tvedt, Bjorn, Andresen, Brage S, Stromme, Petter
Publicado em 2007

The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homoc...

Por Homolova, Katerina, Zavadakova, Petra, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Kozich, Viktor, Andresen, Brage S
Publicado em 2010

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

Por Masuda, Akio, Andersen, Henriette Skovgaard, Doktor, Thomas Koed, Okamoto, Takaaki, Ito, Mikako, Andresen, Brage Storstein, Ohno, Kinji
Publicado em 2012

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

Por Searle, Claire, Andresen, Brage Storstein, Wraith, Ed, Higgs, Jamie, Gray, Deborah, Mills, Alison, Allen, K. Elizabeth, Hobson, Emma
Publicado em 2013

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

Por Bruun, Gitte H., Doktor, Thomas K., Borch-Jensen, Jonas, Masuda, Akio, Krainer, Adrian R., Ohno, Kinji, Andresen, Brage S.
Publicado no BMC Biol (2016)

Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

Por Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein
Publicado em 2014

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

Por Risom, Lotte, Christoffersen, Line, Daugaard-Jensen, Jette, Hove, Hanne Dahlgaard, Andersen, Henriette Skovgaard, Andresen, Brage Storstein, Kreiborg, Sven, Duno, Morten
Publicado em 2013

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Por Aksglaede, Lise, Christensen, Mette, Olesen, Jess H., Duno, Morten, Olsen, Rikke K. J., Andresen, Brage S., Hougaard, David M., Lund, Allan M.
Publicado no JIMD Rep (2015)

Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics

Por Roca, Xavier, Olson, Andrew J., Rao, Atmakuri R., Enerly, Espen, Kristensen, Vessela N., Børresen-Dale, Anne-Lise, Andresen, Brage S., Krainer, Adrian R., Sachidanandam, Ravi
Publicado em 2008

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

Por Oerton, Juliet, Khalid, Javaria M, Besley, Guy, Dalton, R Neil, Downing, Melanie, Green, Anne, Henderson, Mick, Krywawych, Steve, Leonard, James, Andresen, Brage S, Dezateux, Carol
Publicado em 2011

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Ne...

Por Borch, Luise, Lund, Allan Meldgaard, Wibrand, Flemming, Christensen, Ernst, Søndergaard, Charlotte, Gahrn, Birthe, Hougaard, David Michael, Andresen, Brage Storstein, Gregersen, Niels, Olsen, Rikke Katrine Jentoft
Publicado em 2011

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Por Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R., Andresen, Brage Storstein
Publicado no Nucleic Acids Res (2017)

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzy...

Por Palhais, Bruno, Præstegaard, Veronica S., Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein
Publicado no Nucleic Acids Res (2015)

Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking...

Por Nielsen, Karsten Bork, Sørensen, Suzette, Cartegni, Luca, Corydon, Thomas Juhl, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Reinert, Line Sinnathamby, Elpeleg, Orly, Krainer, Adrian R., Gregersen, Niels, Kjems, Jørgen, Andresen, Brage Storstein
Publicado em 2007

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and E...

Por Andresen, Brage Storstein, Christensen, Ernst, Corydon, Thomas J., Bross, Peter, Pilgaard, Bente, Wanders, Ronald J. A., Ruiter, Jos P. N., Simonsen, Henrik, Winter, Vibeke, Knudsen, Inga, Schroeder, Lisbeth Dahl, Gregersen, Niels, Skovby, Flemming
Publicado em 2000

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain...

Por Andresen, Brage Storstein, Bross, Peter, Jensen, Thomas G., Winter, Vibeke, Knudsen, Inga, Kølvraa, Steen, Jensen, Uffe Birk, Bolund, Lars, Duran, Marinus, Kim, Jung-Ja, Curtis, Diana, Divry, Priscille, Vianey-Saban, Christine, Gregersen, Niels
Publicado em 1993

Splicing Factor 1 Modulates Dietary Restriction and TORC1 Pathway Longevity in C. elegans

Por Heintz, Caroline, Doktor, Thomas Koed, Lanjuin, Anne, Escoubas, Caroline, Zhang, Yue, Weir, Heather J., Dutta, Sneha, Silva-García, Carlos Giovanni, Bruun, Gitte Hoffmann, Morantte, Ianessa, Hoxhaj, Gerta, Manning, Brendan D., Andresen, Brage S., Mair, William B.
Publicado no Nature (2016)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Iden...

Por Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels
Publicado em 2001

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Por Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Publicado em 2010

Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene

Por Andresen, Brage Storstein, Jensen, Thomas G., Bross, Peter, Knudsen, Inga, Winter, Vibeke, Kølvraa, Steen, Bolund, Lars, Ding, Jia-Huan, Chen, Yuan-Tsong, Van Hove, Johan L. K., Curtis, Diana, Yokota, Ichiro, Tanaka, Kay, Kim, Jung-Ja Park, Gregersen, Niels
Publicado em 1994