Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sofie Thurø Østergaard"'
Autor:
Sofie Thurø Østergaard, John Vissing, Julia R. Dahlqvist, Freja Fornander, Else R. Danielsen, Carsten Thomsen, Josefine de Stricker Borch, Nanna S. Poulsen
Publikováno v:
Neurology. 95:e1211-e1221
ObjectiveWe followed up patients with facioscapulohumeral muscular dystrophy (FSHD) with sequential examinations over 2 years to investigate whether inflammatory lesions always precede fat replacement, if inflammation can be resolved without muscle d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0b35e01647fbef92714cad4da04b0b
https://doi.org/10.1212/wnl.0000000000010155
https://doi.org/10.1212/wnl.0000000000010155
Autor:
Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Peter De Jonghe, Jonathan Baets, Kristl G Claeys, Roberto Fernández-Torrón, Lauren Phillips, Ana Topf, Jaume Colomer, Shahriar Nafissi, Shirin Jamal-Omidi, Celine Bouchet-Seraphin, France Leturcq, Daniel G MacArthur, Monkol Lek, Liwen Xu, Isabelle Nelson, Volker Straub, John Vissing
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of neurology, neurosurgery and psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of neurology, neurosurgery and psychiatry
PDF Neuromuscular Research paper Limb girdle muscular dystrophy due to mutations in POMT2 Sofie Thurø Østergaard1, Katherine Johnson2, Tanya Stojkovic3, Thomas Krag1, Willem De Ridder4,5,6, Peter De Jonghe4,5,6, Jonathan Baets4,5,6, Kristl G Claeys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa5afff53bcec5e4af09fa23beaa094
https://hal.science/hal-03864445
https://hal.science/hal-03864445
Autor:
Sofie Thurø, Østergaard, Katherine, Johnson, Tanya, Stojkovic, Thomas, Krag, Willem, De Ridder, Peter, De Jonghe, Jonathan, Baets, Kristl G, Claeys, Roberto, Fernández-Torrón, Lauren, Phillips, Ana, Topf, Jaume, Colomer, Shahriar, Nafissi, Shirin, Jamal-Omidi, Celine, Bouchet-Seraphin, France, Leturcq, Daniel G, MacArthur, Monkol, Lek, Liwen, Xu, Isabelle, Nelson, Volker, Straub, John, Vissing
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 89(5)
Mutations in the gene coding for protein O-mannosyl-transferase 2 (Presenting symptoms were difficulties in walking, pain during exercise, delayed motor milestones and learning disabilities at school. All had some degree of cognitive impairment. Brai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::53d5c9529cb3d068f7006ef3a82f32ef
https://pubmed.ncbi.nlm.nih.gov/29175898
https://pubmed.ncbi.nlm.nih.gov/29175898