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Research | 23 October 2019
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
Journal of Human Genetics , 1–8

Rights & permissionsfor article Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis . Opens in a new window.
Amendments and Corrections | 2 February 2018 | Open
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
- Jean-Louis Guéant
- , Céline Chéry
- , Abderrahim Oussalah
- , Javad Nadaf
- , David Coelho
- , Thomas Josse
- , Justine Flayac
- , Aurélie Robert
- , Isabelle Koscinski
- , Isabelle Gastin
- , Pierre Filhine-Tresarrieu
- , Mihaela Pupavac
- , Alison Brebner
- , David Watkins
- , Tomi Pastinen
- , Alexandre Montpetit
- , Fadi Hariri
- , David Tregouët
- , Benjamin A Raby
- , Wendy K. Chung
- , Pierre-Emmanuel Morange
- , D. Sean Froese
- , Matthias R. Baumgartner
- , Jean-François Benoist
- , Can Ficicioglu
- , Virginie Marchand
- , Yuri Motorin
- , Chrystèle Bonnemains
- , François Feillet
- , Jacek Majewski
- & David S. Rosenblatt
Nature Communications 9 , 1–1

Rights & permissionsfor article Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients . Opens in a new window.
6 November 2014 | Open
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD
Genetics in Medicine 17 , 660–667

Rights & permissionsfor article Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD . Opens in a new window.
Research | 26 August 2012
Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism
- David Coelho
- , Jaeseung C Kim
- , Isabelle R Miousse
- , Stephen Fung
- , Marcel du Moulin
- , Insa Buers
- , Terttu Suormala
- , Patricie Burda
- , Michele Frapolli
- , Martin Stucki
- , Peter Nürnberg
- , Holger Thiele
- , Horst Robenek
- , Wolfgang Höhne
- , Nicola Longo
- , Marzia Pasquali
- , Eugen Mengel
- , David Watkins
- , Eric A Shoubridge
- , Jacek Majewski
- , David S Rosenblatt
- , Brian Fowler
- , Frank Rutsch
- & Matthias R Baumgartner
Nature Genetics 44 , 1152–1155

Rights & permissionsfor article Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism . Opens in a new window.
1 August 2007
Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut⁰, mut⁻, cblA, cblB)
Pediatric Research 62 , 225–230

Rights & permissionsfor article Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB) . Opens in a new window.
Research | 11 June 2018 | Open
Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition
Nature Communications 9 , 1–13

Rights & permissionsfor article Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition . Opens in a new window.
Research | 4 January 2018 | Open
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
- Jean-Louis Guéant
- , Céline Chéry
- , Abderrahim Oussalah
- , Javad Nadaf
- , David Coelho
- , Thomas Josse
- , Justine Flayac
- , Aurélie Robert
- , Isabelle Koscinski
- , Isabelle Gastin
- , Pierre Filhine-Tresarrieu
- , Mihaela Pupavac
- , Alison Brebner
- , David Watkins
- , Tomi Pastinen
- , Alexandre Montpetit
- , Fadi Hariri
- , David Tregouët
- , Benjamin A Raby
- , Wendy K. Chung
- , Pierre-Emmanuel Morange
- , D. Sean Froese
- , Matthias R. Baumgartner
- , Jean-François Benoist
- , Can Ficicioglu
- , Virginie Marchand
- , Yuri Motorin
- , Chrystèle Bonnemains
- , François Feillet
- , Jacek Majewski
- & David S. Rosenblatt
Nature Communications 9 , 1–12

Rights & permissionsfor article A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients . Opens in a new window.

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Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

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Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut⁰, mut⁻, cblA, cblB)