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Results by year

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

Year Number of Results
1975 1
1979 1
1990 1
2001 1
2003 1
2004 3
2005 1
2007 1
2009 2
2010 1
2011 1
2012 2
2013 4
2014 7
2015 3
2016 2
2017 1
2018 1
2019 1
2024 0

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PubMed for Bookshelf ID: 3072848

29 results

Results by year

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Page 1
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I. Uruha A, et al. J Neurol Neurosurg Psychiatry. 2015 May;86(5):483-9. doi: 10.1136/jnnp-2014-309009. Epub 2014 Sep 24. J Neurol Neurosurg Psychiatry. 2015. PMID: 25253871
A rising titan: TTN review and mutation update.
Chauveau C, Rowell J, Ferreiro A. Chauveau C, et al. Hum Mutat. 2014 Sep;35(9):1046-59. doi: 10.1002/humu.22611. Epub 2014 Jul 21. Hum Mutat. 2014. PMID: 24980681 Review.
Titinopathy in a Canadian family sharing the British founder haplotype.
Pfeffer G, Joseph JT, Innes AM, Frizzell JB, Wilson IJ, Brownell AK, Chinnery PF. Pfeffer G, et al. Can J Neurol Sci. 2014 Jan;41(1):90-4. doi: 10.1017/s0317167100016346. Can J Neurol Sci. 2014. PMID: 24384345 Free PMC article. No abstract available.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B. Palmio J, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19. J Neurol Neurosurg Psychiatry. 2014. PMID: 23606733
29 results