المؤلفون: Giacomucci, G., Monforte, M., Diaz-Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J., Van Engelen, B., Ricci, E., Tasca, G.

المصدر: Giacomucci , G , Monforte , M , Diaz-Manera , J , Mul , K , Fernandez Torrón , R , Maggi , L , Marini Bettolo , C , Dahlqvist , J R , Haberlova , J , Camaño , P , Gros , M , Tartaglione , T , Cristiano , L , Gerevini , S , Calandra , P , Deidda , G , Giardina , E , Sacconi , S , Straub , V , Vissing , J , Van Engelen , B , Ricci , E & Tasca , G 2020 , ' Deep ....

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, FSHD, FSHD2, muscle MRI, neuromuscular diseases

الاتاحة: https://curis.ku.dk/portal/da/publications/deep-phenotyping-of-facioscapulohumeral-muscular-dystrophy-type-2-by-magnetic-resonance-imaging(fd10008d-18b9-4379-ba8e-f7d841c6fdb5).html
https://doi.org/10.1111/ene.14446

المؤلفون: Witting, N, Laforêt, P, Voermans, N C, Roux-Buisson, N, Bompaire, F, Rendu, J, Duno, M, Feillet, F, Kamsteeg, E-J, Poulsen, N S, Dahlqvist, J R, Romero, N B, Fauré, J, Vissing, J, Behin, A

المصدر: Witting , N , Laforêt , P , Voermans , N C , Roux-Buisson , N , Bompaire , F , Rendu , J , Duno , M , Feillet , F , Kamsteeg , E-J , Poulsen , N S , Dahlqvist , J R , Romero , N B , Fauré , J , Vissing , J & Behin , A 2018 , ' Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome ' , Acta Neurologica Scandinavica , vol. 137 , no. 5 , pp. 452-461 . https://doi.org/10.1111/ane.12885

مصطلحات موضوعية: Adolescent, Adult, Child, Denmark, Female, France, Genotype, Humans, Male, Middle Aged, Mutation, Myalgia/genetics, Netherlands, Phenotype, Rhabdomyolysis/genetics, Ryanodine Receptor Calcium Release Channel/genetics, Syndrome, Young Adult

الاتاحة: https://curis.ku.dk/portal/da/publications/phenotype-and-genotype-of-muscle-ryanodine-receptor-rhabdomyolysismyalgia-syndrome(23b18c84-136e-496e-97fb-e5416af8cb09).html
https://doi.org/10.1111/ane.12885

المؤلفون: Dahlqvist, J. R., Ørngreen, M. C., Witting, N., Vissing, J.

المساهمون: Augustinus Foundation

المصدر: European Journal of Neurology ; volume 22, issue 1, page 116-122 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.12542
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fene.12542
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.12542

المؤلفون: Witting, N., Laforêt, P., Voermans, N. C., Roux‐Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E.‐J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J., Behin, A.

المصدر: Acta Neurologica Scandinavica; May2018, Vol. 137 Issue 5, p452-461, 10p

مصطلحات موضوعية: HYPOTHERMIA, MYALGIA, RHABDOMYOLYSIS, RYANODINE receptors, GENOTYPES

المؤلفون: Dahlqvist, J. R., Ørngreen, M. C., Witting, N., Vissing, J.

المصدر: European Journal of Neurology; Jan2015, Vol. 22 Issue 1, p116-122, 7p, 1 Diagram, 3 Charts, 2 Graphs

مصطلحات موضوعية: ENDOCRINE function tests, MYOTONIA atrophica, HYPERPARATHYROIDISM, HORMONE metabolism, ENDOCRINE diseases