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Year Number of Results
2012 1
2013 2
2014 3
2015 4
2016 3
2017 2
2018 3
2019 2
2020 1
2024 0

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16 results

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Page 1
Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Østergaard ST, et al. J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24. J Neurol Neurosurg Psychiatry. 2018. PMID: 29175898
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P. Signorelli M, et al. J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):505-517. doi: 10.1002/jcsm.12517. Epub 2019 Dec 27. J Cachexia Sarcopenia Muscle. 2020. PMID: 31881125 Free PMC article.
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease.
Khan MM, Lustrino D, Silveira WA, Wild F, Straka T, Issop Y, O'Connor E, Cox D, Reischl M, Marquardt T, Labeit D, Labeit S, Benoit E, Molgó J, Lochmüller H, Witzemann V, Kettelhut IC, Navegantes LC, Pozzan T, Rudolf R. Khan MM, et al. Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):746-50. doi: 10.1073/pnas.1524272113. Epub 2016 Jan 5. Proc Natl Acad Sci U S A. 2016. PMID: 26733679 Free PMC article.
Phenotypic variability of TRPV4 related neuropathies.
Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Evangelista T, et al. Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18. Neuromuscul Disord. 2015. PMID: 25900305 Free PMC article.
Analysis of the functional capacity outcome measures for myotonic dystrophy.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blain AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman GS, Turner C, Lochmüller H. Jimenez-Moreno AC, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1487-1497. doi: 10.1002/acn3.50845. Epub 2019 Jul 22. Ann Clin Transl Neurol. 2019. PMID: 31402614 Free PMC article.
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A. Natera-de Benito D, et al. Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23. Neuromuscul Disord. 2016. PMID: 26782015
16 results