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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1970 1
1974 1
2001 1
2005 2
2006 2
2010 3
2011 1
2012 6
2013 3
2014 3
2015 4
2016 4
2017 10
2018 10
2019 8
2020 7
2021 12
2022 9
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77 results
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Page 1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: raaphorst j. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: raaphorst j. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis.
Stunnenberg BC, Merkus EC, Raaphorst J, Saris CG, Groenewoud H, Statland J, Weijma R, van Vlijmen B, Griggs R, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. Among authors: raaphorst j. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1352-1353. doi: 10.1136/jnnp-2021-326347. Epub 2021 Jun 10. J Neurol Neurosurg Psychiatry. 2021. PMID: 34112717 No abstract available.
Intramuscular adipose tissue at level Th12 is associated with survival in COVID-19.
Viddeleer AR, Raaphorst J, Min M, Beenen LFM, Scheerder MJ, Vlaar APJ; Amsterdam UMC COVID-19 Biobank, Beudel M, Hemke R. Viddeleer AR, et al. Among authors: raaphorst j. J Cachexia Sarcopenia Muscle. 2021 May 3;12(3):823-7. doi: 10.1002/jcsm.12696. Online ahead of print. J Cachexia Sarcopenia Muscle. 2021. PMID: 33939338 Free PMC article. No abstract available.
Assessment of disability in idiopathic inflammatory myopathy: a call for linearity.
Min M, Walter AW, Lim J, Eftimov F, Verhamme C, de Visser M, van Schaik IN, Aggarwal R, de Haan RJ, van der Kooi AJ, Raaphorst J; Dutch Myositis Network. Min M, et al. Among authors: raaphorst j. Rheumatology (Oxford). 2021 Dec 7:keab906. doi: 10.1093/rheumatology/keab906. Online ahead of print. Rheumatology (Oxford). 2021. PMID: 34875011
Brain imaging in myotonic dystrophy type 1: A systematic review.
Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM. Okkersen K, et al. Among authors: raaphorst j. Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768849 Review.
Human brain pathology in myotonic dystrophy type 1: A systematic review.
Weijs R, Okkersen K, van Engelen B, Küsters B, Lammens M, Aronica E, Raaphorst J, van Cappellen van Walsum AM. Weijs R, et al. Among authors: raaphorst j. Neuropathology. 2021 Feb;41(1):3-20. doi: 10.1111/neup.12721. Neuropathology. 2021. PMID: 33599033 Free PMC article.
Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study.
Lim J, Eftimov F, Verhamme C, Brusse E, Hoogendijk JE, Saris CGJ, Raaphorst J, De Haan RJ, van Schaik IN, Aronica E, de Visser M, van der Kooi AJ. Lim J, et al. Among authors: raaphorst j. Rheumatology (Oxford). 2021 Apr 6;60(4):1784-1792. doi: 10.1093/rheumatology/keaa459. Rheumatology (Oxford). 2021. PMID: 33099648 Free PMC article. Clinical Trial.
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
Steinacker P, Feneberg E, Halbgebauer S, Witzel S, Verde F, Oeckl P, Van Damme P, Gaur N, Gray E, Grosskreutz J, Jardel CG, Kachanov M, Kuhle J, Lamari F, Maceski A, Del Mar Amador M, Mayer B, Morelli C, Petri S, Poesen K, Raaphorst J, Salachas F, Silani V, Turner MR, Verbeek MM, Volk AE, Weishaupt JH, Weydt P, Ludolph AC, Otto M. Steinacker P, et al. Among authors: raaphorst j. Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):276-286. doi: 10.1080/21678421.2020.1861023. Epub 2021 Feb 12. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33576252
Japanese version of the ALS-FTD-Questionnaire (ALS-FTD-Q-J).
Watanabe Y, Beeldman E, Raaphorst J, Izumi Y, Yoshino H, Masuda M, Atsuta N, Ito S, Adachi T, Adachi Y, Yokota O, Oda M, Hanashima R, Ogino M, Ichikawa H, Hasegawa K, Kimura H, Shimizu T, Aiba I, Yabe H, Kanba M, Kusumi K, Aoki T, Hiroe Y, Watanabe H, Nishiyama K, Nomoto M, Sobue G, Nakashima K; ALS-FTD-Q-J Research Group. Watanabe Y, et al. Among authors: raaphorst j. J Neurol Sci. 2016 Aug 15;367:51-5. doi: 10.1016/j.jns.2016.05.036. Epub 2016 May 18. J Neurol Sci. 2016. PMID: 27423564
77 results