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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 2 |
2016 | 4 |
2022 | 1 |
2024 | 0 |
PubMed (cited) for id: 616266
7 results
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Page 1
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay.
Clin Dysmorphol. 2022 Oct 1;31(4):206-210. doi: 10.1097/MCD.0000000000000431. Epub 2022 Jun 27.
Clin Dysmorphol. 2022.
PMID: 36094358
No abstract available.
A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.
Wang Y, Koh K, Ichinose Y, Yasumura M, Ohtsuka T, Takiyama Y.
Wang Y, et al.
Clin Genet. 2016 Dec;90(6):556-557. doi: 10.1111/cge.12851. Epub 2016 Sep 16.
Clin Genet. 2016.
PMID: 27633718
No abstract available.
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NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ.
Bend EG, et al.
Neurology. 2016 Sep 13;87(11):1131-9. doi: 10.1212/WNL.0000000000003095. Epub 2016 Aug 24.
Neurology. 2016.
PMID: 27558372
Free PMC article.
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Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
Karakaya M, Heller R, Kunde V, Zimmer KP, Chao CM, Nürnberg P, Cirak S.
Karakaya M, et al.
Neuropediatrics. 2016 Aug;47(4):273-7. doi: 10.1055/s-0036-1584084. Epub 2016 May 23.
Neuropediatrics. 2016.
PMID: 27214504
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De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N.
Fukai R, et al.
J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14.
J Hum Genet. 2016.
PMID: 26763878
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A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL.
Aoyagi K, et al.
Hum Mutat. 2015 Aug;36(8):753-7. doi: 10.1002/humu.22797. Epub 2015 Jun 22.
Hum Mutat. 2015.
PMID: 25864427
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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ.
Chong JX, et al.
Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.
Am J Hum Genet. 2015.
PMID: 25683120
Free PMC article.
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