E-LIB Suche - Ergebnisse für: Vissing, J.

1

Abnormal myosin post-translational modifications and ATP tu..:

Sonne, A ; Antonovic, AK ; Melhedegaard, E...
ACTA PHYSIOLOGICA. , 2023

Link: https://qmro.qmul.ac.uk/..

2

OxPhos defects cause hypermetabolism and reduce lifespan in..:

Sturm G ; Karan K. R ; Monzel A. S...
info:eu-repo/semantics/altIdentifier/wos/WOS:000936542400004. , 2023

Link: https://hdl.handle.net/1..

3

Low aerobic capacity in McArdle disease : A role for mitoch..:

Villarreal-Salazar, M ; Santalla, A ; Real-Martinez, Alberto...
Instituto de Salud Carlos III PI17/02052. , 2022

Link: https://ddd.uab.cat/reco..

4

Low aerobic capacity in McArdle disease: A role for mitocho..:

M. Villarreal-Salazar ; A. Santalla ; A. Real-Martínez...
http://www.sciencedirect.com/science/article/pii/S2212877822002174. , 2022

Link: https://doi.org/10.1016/..

5

Low aerobic capacity in McArdle disease: A role for mitocho..:

Villarreal-Salazar, M ; Santalla, A ; Real-Martínez, A...
Publisher's version. , 2022

Link: http://hdl.handle.net/10..

6

Low aerobic capacity in McArdle disease: A role for mitocho..:

Villarreal-Salazar, M ; Santalla, A ; Real-Martínez, A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758572/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Cardiac Outcomes in Adults With Mitochondrial Diseases:

Savvatis, K ; Vissing, CR ; Klouvi, L...
https://discovery.ucl.ac.uk/id/eprint/10160733/2/Quinlivan_JACC_email_attachment_0_1657664075_1final.pdf. , 2022

Link: https://discovery.ucl.ac..

8

Clinical practice guidelines for glycogen storage disease V..:

Lucia, A ; Martinuzzi, A ; Nogales-Gadea, G...
Neuromuscular Disorders. , 2021

Link: https://bura.brunel.ac.u..

9

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021

Link: https://hdl.handle.net/1..

10

E-Health Innovation to Overcome Barriers in Neuromuscular D..:

Pini, J ; Siciliano, G ; Lahaut, P...
Journal of Neuromuscular Diseases. , 2021

Link: https://ddd.uab.cat/reco..

11

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Bod..:

Amato, AA ; Hanna, MG ; Machado, PM...
https://discovery.ucl.ac.uk/id/eprint/10125326/3/Machado_Efficacy%20and%20Safety%20of%20Bimagrumab%20in%20Sporadic%20Inclusion%20Body%20Myositis.pdf. , 2021

Link: https://discovery.ucl.ac..

12

Phenotypic spectrum and clinical course of single large-sca..:

Bjorkman, K ; Vissing, J ; Ostergaard, E...
Bjorkman , K , Vissing , J , Ostergaard , E , Bindoff , L A , de Coo , I F M , Engvall , M , Hikmat , O , Isohanni , P , Kollberg , G , Lindberg , C , Majamaa , K , Naess , K , Uusimaa , J , Tulinius , M & Darin , N 2021 , ' Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study ' , Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108006. , 2021

Link: https://cris.maastrichtu..

13

Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:

Bryen, S. J ; Ewans, L. J ; Pinner, J...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021

Link: https://doi.org/10.1002/..

14

Eculizumab in refractory generalized myasthenia gravis prev..:

Siddiqi Z. A ; Nowak R. J ; Mozaffar T...
info:eu-repo/semantics/altIdentifier/pmid/34590717. , 2021

Link: http://hdl.handle.net/11..

15

Results of an open label feasibility study of sodium valpro..:

Scalco, RS ; Stemmerik, M ; Løkken, N...
https://discovery.ucl.ac.uk/id/eprint/10108806/1/NMD-D-20-00030_R1.pdf. , 2020

Link: https://discovery.ucl.ac..