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2021
Mark A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder
Foy, Malika ; De Mazancourt, Philippe ; Métay, Corinne ; Carlier, Robert ; Allamand, Valérie ^LU ; Gartioux, Corine ; Gillas, Fabrice ; Miri, Nawel ; Jobic, Valérie and Mekki, Ahmed , et al. (2021) In Clinical Case Reports 9(9).
- Contribution to journal › Article
Mark Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant : Elucidating its Role in Collagen VI-related Myopathies
Villar-Quiles, Rocío N. ; Donkervoort, Sandra ; De Becdelièvre, Alix ; Gartioux, Corine ; Jobic, Valérie ; Foley, A. Reghan ; McCarty, Riley M. ; Hu, Ying ; Menassa, Rita and Michel, Laurence , et al. (2021) In Journal of Neuromuscular Diseases 8(4). p.633-645
- Contribution to journal › Article
Mark Merosin deficient congenital muscular dystrophy type 1A : An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands
Smeets, Hubert J.M. ; Verbrugge, Bram ; Springuel, Pierre ; Voermans, Nicol C. ; Cossu, Giulio ; de Coo, René ; Diamantidis, Christos ; Dragendorf, Eric ; Durbeej-Hjalt, Madeleine ^LU and Dziewczapolski, Gustavo , et al. (2021) In Neuromuscular Disorders 31(7). p.673-680
- Contribution to journal › Article
2020
Mark Antioxidants reduce muscular dystrophy in the dy^2J/dy^2J mouse model of laminin α2 chain-deficient muscular dystrophy
Harandi, Vahid M. ^LU ; Oliveira, Bernardo Moreira Soares ^LU ; Allamand, Valérie ^LU ; Friberg, Ariana ; Fontes-Oliveira, Cibely C. ^LU and Durbeej, Madeleine ^LU (2020) In Antioxidants 9(3).
- Contribution to journal › Article
Mark A Family of Laminin α2 Chain-Deficient Mouse Mutants : Advancing the Research on LAMA2-CMD
Gawlik, Kinga I. ^LU and Durbeej, Madeleine ^LU (2020) In Frontiers in Molecular Neuroscience 13.
- Contribution to journal › Scientific review
2019
Mark A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene
Kemaladewi, Dwi U ; Bassi, Prabhpreet S ; Erwood, Steven ; Al-Basha, Dhekra ; Gawlik, Kinga I ^LU ; Lindsay, Kyle ; Hyatt, Elzbieta ; Kember, Rebekah ; Place, Kara M and Marks, Ryan M , et al. (2019) In Nature 572(7767). p.125-130
- Contribution to journal › Letter
Mark Effects of N-acetyl-L-cysteine and vitamin E on congenital muscular dystrophy type 1A disease progression in mice
M. Harandi, Vahid ^LU ; Moreira Soares Oliveira, Bernardo ^LU ; Friberg, Ariana ; Gawlik, Kinga ^LU and Durbeej, Madeleine ^LU (2019) 24th International Annual Congress of the World Muscle Society 29. p.163-164
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
2018
Mark Laminin α1 reduces muscular dystrophy in dy^2Jmice
Gawlik, Kinga I. ^LU ; Harandi, Vahid M. ^LU ; Cheong, Rachel Y. ^LU ; Petersén, Åsa ^LU and Durbeej, Madeleine ^LU (2018) In Matrix Biology 70. p.36-49
- Contribution to journal › Article
Mark Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study
Fontes Oliveira, Cibely ^LU ; M. Soares Oliveira, Bernardo ^LU ; Körner, Zandra ^LU ; Harandi, Vahid ^LU and Durbeej-Hjalt, Madeleine ^LU (2018) In Scientific Reports
- Contribution to journal › Article
Mark Potential therapies and biomarkers for LAMA2-CMD. Does the microRNA hype deliver?
Moreira Soares Oliveira, Bernardo ^LU (2018) In Lund University, Faculty of Medicine Doctoral Dissertation Series 2018(98).
- Thesis › Doctoral thesis (compilation)

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