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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 4 |
2012 | 3 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
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7 results
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Page 1
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
J Peripher Nerv Syst. 2014 Jun;19(2):152-64. doi: 10.1111/jns5.12066.
J Peripher Nerv Syst. 2014.
PMID: 24862862
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.
Zimoń M, et al.
Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.
Nat Genet. 2012.
PMID: 22961002
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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program; Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A.
Vester A, et al.
Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11.
Hum Mutat. 2013.
PMID: 22930593
Free PMC article.
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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A.
McLaughlin HM, et al.
Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9.
Hum Mutat. 2012.
PMID: 22009580
Free PMC article.
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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW.
Choi BO, et al.
Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.
Hum Mutat. 2011.
PMID: 21480433
Free PMC article.
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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S.
McCorquodale DS 3rd, et al.
J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22.
J Neurol. 2011.
PMID: 21258814
Free PMC article.
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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S.
Montenegro G, et al.
Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
Ann Neurol. 2011.
PMID: 21254193
Free PMC article.
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