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

Year Number of Results
1998 1
2001 1
2003 2
2004 12
2005 12
2006 12
2007 13
2008 7
2009 8
2010 2
2011 4
2012 6
2013 7
2014 9
2015 4
2016 6
2017 4
2018 8
2019 4
2020 2
2021 6
2022 5
2023 1
2024 0

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Similar articles for PMID: 15108294

116 results

Results by year

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Page 1
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Maystadt I, et al. Hum Mutat. 2004 May;23(5):525-6. doi: 10.1002/humu.9241. Hum Mutat. 2004. PMID: 15108294
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I. Jędrzejowska M, et al. Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15. Eur J Paediatr Neurol. 2014. PMID: 24388491
116 results