PubMed for id: 907234

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35911839,35055596,31409833,30167850,27558372,25683120,37046053,27844033,38684302,38674071,38664339,38654225,38643142,38591167,38575892,38539105,38506013,38502237,38484275,38475910,38469782,38441608,38408162,38396730,38395087,38384171,38363494,38355898,38355202,38353053,38352994,38351293,38335407,38332451,38325380,38309657,38287449,38284453,38262122,38245625,38203602,38182156,38178270,38171563,38154310,38152125,38146907,38137045,38128548,38123995,38115218,38110236,38104461,38100275,38062644,38050304,38044464,38037881,38034001,38019730,38013309,37991765,37981638,37958948,37958548,37936555,37923938,37895307,37893556,37887549,37882972,37872713,37847107,37828049,37816608,37815018,37798680,37794641,37792810,37758467,37747683,37735378,37731249,37721175,37721116,37718233,37704034,37659595,37658636,37654076,37643962,37641008,37635957,37628577,37619992,37586838,37580113,37576960,37566956,37533297,37526450,37517035,37512036,37500725,37493943,37488749,37455656,37451268,37428651,37422718,37409888,37372388,37372357,37365930,37357910,37334838,37316189,37302973,37296101,37289514,37282850,37277650,37271119,37258294,37258045,37243919,37204045,37198333,37194129,37190898,37179318,37176024,37166351,37163662,37162176,37157980,37120535,37099686,37075751,37068843,37067385,37067065,37059840,37052010,37046298,37031571,37029735,37018629,37016333,36975754,36897941,36889805,36889031,36877418,36843271,36840359,36793093,36768582,36759911,36758531,36758123,36757831,36757286,36756859,36722210,36722173,36709747,36708876,36691917,36674868,36653756,36652930,36617405,36611016,36610046,36608738,36597672,36581449,36524384,36517210,36515923,36490374,36476334,36460282,36459360,36458506,36437209,36426740,36421801,36416235,36379720,36379434,36367395,36367278,36363484,36352633,36337023,36336873,36322149,36321748,36318887,36318816,36305444,36293223,36243335,36242045,36232804,36231062,36220858,36216272,36208065,36207883,36197437,36192783,36184098,36183910,36150256,36149814,36142510,36140720,36140671,36117579,36116096,36099689,36087421,36082562,36076277,36071085,36054331,36049609,36039580,35996251,35971781,35964110,35962715,35960161,35953447,35951321,35949058,35948257,35947323,35945798,35932482,35932018,35929934,35882526,35871307,35861185,35839600,35837780,35835064,35830857,35830358,35810017,35803701,35792517,35789397,35789128,35787602,35768224,35762114,35754295,35716097,35709987,35695701,35669683,35665995,35658366,35642566,35633020,35627165,35606033,35550183,35546426,35536477,35535697,35512351,35509048,35491967,35489412,35468813,35460833,35456500,35456433,35451551,35435265,35426486,35412344,35410112,35397152,35396900,35378319,35353340,35338746,35322404,35322185,35321723,35312147,35304602,35289498,35258128,35253627,35246174,35243770,35231627,35189940,35149592,35149204,35148930,35146895,35140087,35139903,35137569,35137278,35122698,35119035,35115028,35114584,35108799,35092358,35086131,35080150,35076909,35063350,35060513,35034425,35033576,35025139,35024745,35018708,34997803,34989134,34974949,34971077,34970101,34964963,34942405,34930245,34907639,34906456,34904221,34860437,34838142,34833458,34831818,34818117,34815299,34797033,34787370,34763108,34757053,34741306,34736635,34735964,34711653,34710315,34706719,34700371,34699703,34697698,34686764,34680874,34675124,34659104,34654706,34652060,34648682,34645992,34627237,34609792,34583755,34580891,34563042,34549882,34537402,34533014,34502334,34491614,34477286,34474177,34465352,34456334,34440290,34405590,34383618,34382536,34365623,34359900,34357686,34322994,34308837,34265435,34264147,34259997,34247373,34238712,34231173,34212383,34208845,34205270,34183358,34180430,34171997,34155636,34133031,34132911,34128868,34124982,34120690,34117072,34093443,34085356,34068417,34058199,34053308,34050707,34039477,34023521,34021867,34013567,33994433,33982229,33979636,33967092,33949289,33940562,33922640,33921132,33913579,33910511,33909591,33900643,33890232,33877658,33866394,33859080,33851480,33845882,33818875,33811806,33801522,33794347,33785884,33783954,33761697,33750016,33714239,33712684,33706403,33678339,33674768,33668384,33667823,33638286,33620284,33617655,33597285,33596411,33594261,33588901,33576134,33566436,33562221,33560739,33559401,33557787,33554696,33529703,33500540,33498651,33494837,33471587,33466118,33459250,33443317,33442026,33438813,33429816,33423261,33419730,33415748,33410528,33410501,33400472,33397003,33393407,33369125,33369065,33369061,33340101,33332575,33309753,33306828,33305557,33294969,33275834,33274568,33263187,33258894,33258286[uid]

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Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Liao Z, Liu Y, Wang Y, Lu Q, Peng Y, Liu Q. Liao Z, et al. Front Pediatr. 2022 Jul 13;10:927392. doi: 10.3389/fped.2022.927392. eCollection 2022. Front Pediatr. 2022. PMID: 35911839 Free PMC article.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B. Winczewska-Wiktor A, et al. Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775. Int J Environ Res Public Health. 2022. PMID: 35055596 Free PMC article.

Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.

Bouasse M, Impheng H, Servant Z, Lory P, Monteil A. Bouasse M, et al. Sci Rep. 2019 Aug 13;9(1):11791. doi: 10.1038/s41598-019-48071-x. Sci Rep. 2019. PMID: 31409833 Free PMC article.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.

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.

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.

Novel NALCN variant linked to temporal lobe epilepsy.

Nguyen E, Tétreault M, Toffa DH, Cossette P, Samarut É, Nguyen DK. Nguyen E, et al. Am J Med Genet A. 2023 Jul;191(7):1942-1947. doi: 10.1002/ajmg.a.63209. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37046053

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.

Lozic B, Johansson S, Lovric Kojundzic S, Markic J, Knappskog PM, Hahn AF, Boman H. Lozic B, et al. Ann Clin Transl Neurol. 2016 Oct 11;3(11):876-883. doi: 10.1002/acn3.362. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844033 Free PMC article.

[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].

Wang B, Sui J, Dong J, Zhang X, Han M, Liu S. Wang B, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):565-570. doi: 10.3760/cma.j.cn511374-20230427-00249. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38684302 Chinese.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

Badeńska M, Pac M, Badeński A, Rutkowska K, Czubilińska-Łada J, Płoski R, Bohynikova N, Szczepańska M. Badeńska M, et al. Int J Mol Sci. 2024 Apr 19;25(8):4486. doi: 10.3390/ijms25084486. Int J Mol Sci. 2024. PMID: 38674071 Free PMC article.

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