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Year Number of Results
2009 2
2010 3
2011 1
2013 1
2014 2
2015 5
2016 3
2017 5
2018 8
2019 4
2020 13
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2022 6
2023 4
2024 2

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56 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
Karazi W, Scalco RS, Stemmerik MG, Løkken N, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Kouwenberg CV, Laforêt P, Millán BS, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, Voermans NC; EUROMAC Consortium. Karazi W, et al. Among authors: durmus h. Orphanet J Rare Dis. 2023 Jul 25;18(1):210. doi: 10.1186/s13023-023-02825-z. Orphanet J Rare Dis. 2023. PMID: 37488619 Free PMC article.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Elsnicova B, Hornikova D, Tibenska V, Kolar D, Tlapakova T, Schmid B, Mallek M, Eggers B, Schlötzer-Schrehardt U, Peeva V, Berwanger C, Eberhard B, Durmuş H, Schultheis D, Holtzhausen C, Schork K, Marcus K, Jordan J, Lücke T, van der Ven PFM, Schröder R, Clemen CS, Zurmanova JM. Elsnicova B, et al. Among authors: durmus h. Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020. Int J Mol Sci. 2022. PMID: 36233322 Free PMC article.
56 results