PubMed for id: 333405

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38390857,38290182,38136617,38129960,38100910,38096051,38069470,38054413,37994132,37994131,37991281,37974207,37970883,37830578,37804337,37759552,37747131,37710353,37704779,37566006,37563452,37508583,37445892,37438803,37408271,37381736,37372334,37209683,37190086,36920921,36907694,36899894,36879246,36831303,36724941,36642718,36553666,36549234,36496525,36470810,36434514,36430143,36253345,36226509,36216272,36181660,36179574,36172690,36171182,36140775,36027721,35961250,35945102,35929549,35765698,35741066,35729184,35710802,35664078,35653700,35640651,35638718,35379866,35364647,35338117,35322102,35318820,35290126,35263890,35174922,35133485,35091116,35075104,34974949,34967885,34946860,34946857,34896112,34839504,34828275,34791706,34681027,34680911,34678473,34670126,34568938,34539576,34524523,34472659,34445074,34440392,34440332,34427356,34412977,34296518,34296368,34199727,34073864,34069220,34066437,34022415,33993189,33990099,33974253,33925166,33875724,33781915,33737230,33683010,33669384,33632320,33627639,33608547,33536358,33495935,33423263,33420492,33198194,33172406,33131090,33019488,32988374,32966779,32919126,32851591,32800941,32746752,32698189,32693376,32687459,32580781,32575683,32533363,32483686,32383329,32336485,32293788,32209477,32152462,32089525,31996374,31963584,31939587,31891607,31810942,31797351,31722744,31694075,31653898,31601272,31574190,31535341,31520365,31512387,31410843,31214863,31213567,31115468,31046699,30980517,30929312,30893603,30743046,30729724,30664568,30661772,30618512,30576349,30566867,30552298,30537011,30536762,30472488,30462380,30455458,30305042,30264515,30108015,30042467,29966812,29926373,29667327,29660202,29617515,29595813,29532523,29468261,29437538,29399949,29395664,29261177,29192378,29099150,28993314,28911278,28904386,28866801,28851427,28816242,28777483,28709814,28661491,28648511,28541279,28471529,28404480,28397223,28397151,28395727,28394409,28282408,28278294,28144878,28112979,28103894,28077157,28007990,27991992,27959330,27883178,27816333,27797833,27761913,27696642,27695081,27653682,27649377,27628938,27615674,27541642,27528505,27511284,27462983,27442693,27340021,27312842,27247049,27146977,27146693,27145725,27062609,27059748,27028180,26947966,26930212,26891131,26764156,26741321,26694146,26615955,26612855,26547211,26507912,26471937,26428317,26420639,26412477,26368820,26354035,26300074,26278631,26239182,26194536,26190196,26174906,25979331,25965333,25847585,25847019,25789914,25735484,25643039,25619353,25614013,25534560,25439737,25420563,25389909,25366135,25358671,25266480,25258334,25258112,25224527,25219940,25192506,25085749,25044830,25044551,25044251,25038123,24987673,24979557,24919650,24875300,24776956,24700618,24671107,24664669,24548388,24523898,24453408,24349419,24300809,24300646,24285247,24283265,24262385,24204304,24116704,24100245,24092917,24075449,24067915,24045061,24039113,23894354,23867198,23836153,23744248,23696494,23632790,23537841,23497562,23492875,23421866,23340513,23331137,23307923,23299245,23270700,23202739,23200289,23114596,23077007,23021068,22998673,22992316,22982301,22903889,22739344,22711717,22695177,22570976,22532851,22525432,22516699,22466801,22277191,22266886,22245581,22204497,22142326,22132986,22132985,22107440,22097997,22072915,22009732,21992462,21982803,21932336,21932316,21926154,21888765,21871116,21824415,21767618,21750574,21722922,21708223,21684358,21639881,21587099,21572337,21530498,21494555,21488007,21300345,21291454,21279400,21276648,21252315,21242307,21239872,21211940,21204809,21108396,20865280,20861843,20809278,20734096,20714486,20659910,20652413,20638392,20616364,20558944,20548240,20537351,20504901,20447653,20431035,20425301,20425298,20420124,20348192,20345957,20332100,20186809,20168238,20141036,20118148,20101683,20083155,20002125,19938084,19921636,19908235,19859888,19849940,19842190,19809484,19763529,19652677,19623215,19584063,19578717,19573459,19552836,19542082,19507262,19427505,19425070,19376197,19350171,19347365,19262082,19234456,19225139,19220592,19206178,19194883,19168822,19097038,19085879,19073844,19016344,18981933,18975239,18973276,18957433,18808783,18710461,18701457,18688737,18682256,18652533,18628788,18583885,18580692,18562141,18515020,18452397,18396005,18373410,18329929,18321865,18321864,18302774,18256395,18234694,18213394,18212495,18174559,18174548,18067674,18063413,18021529,17851139,17724287,17716226,17712354,17697859,17674408,17662307,17620491,17544925,17506288,17433737,17427193,17387578,17376973,17369503,17363207,17276711,17225873,17172942,17156695,17142618[uid]

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Results by year

Year	Number of Results
2006	5
2007	21
2008	31
2009	32
2010	31
2011	39
2012	25
2013	31
2014	30
2015	32
2016	36
2017	32
2018	27
2019	29
2020	28
2021	46
2022	39
2023	35
2024	8

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.

Sleep and the Social Profiles of Individuals With Rett Syndrome.

Zhang X, Smits M, Curfs L, Spruyt K. Zhang X, et al. Pediatr Neurol. 2024 Mar;152:153-161. doi: 10.1016/j.pediatrneurol.2024.01.004. Epub 2024 Jan 8. Pediatr Neurol. 2024. PMID: 38290182 Free article.

Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase.

El Nachef L, Al-Choboq J, Bourguignon M, Foray N. El Nachef L, et al. Biomolecules. 2023 Dec 5;13(12):1746. doi: 10.3390/biom13121746. Biomolecules. 2023. PMID: 38136617 Free PMC article.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Nyaga DM, Hildebrand MS, de Valles-Ibáñez G, Keenan NF, Ye Z, LaFlamme CW, Mefford HC, Bennett MF, Bahlo M, Sadleir LG. Nyaga DM, et al. Epilepsia Open. 2024 Apr;9(2):758-764. doi: 10.1002/epi4.12887. Epub 2024 Jan 5. Epilepsia Open. 2024. PMID: 38129960 Free PMC article.

Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2.

Guo Y, Li J, Xie W, Huang H, Li JJ, Lin W, Lu YQ. Guo Y, et al. Stem Cell Res. 2024 Feb;74:103268. doi: 10.1016/j.scr.2023.103268. Epub 2023 Dec 1. Stem Cell Res. 2024. PMID: 38100910 Free article.

MeCP2 represses the activity of topoisomerase IIβ in long neuronal genes.

Nettles SA, Ikeuchi Y, Lefton KB, Abbasi L, Erickson A, Agwu C, Papouin T, Bonni A, Gabel HW. Nettles SA, et al. Cell Rep. 2023 Dec 26;42(12):113538. doi: 10.1016/j.celrep.2023.113538. Epub 2023 Dec 12. Cell Rep. 2023. PMID: 38096051 Free PMC article.

FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.

Dufour BD, Bartley T, McBride E, Allen E, McLennan YA, Hagerman RJ, Martínez-Cerdeño V. Dufour BD, et al. Ann Neurol. 2024 Mar;95(3):558-575. doi: 10.1002/ana.26851. Epub 2024 Jan 16. Ann Neurol. 2024. PMID: 38069470

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Ünsal Y, Hayran G. Ünsal Y, et al. J Clin Res Pediatr Endocrinol. 2024 Mar 11;16(1):116-122. doi: 10.4274/jcrpe.galenos.2023.2023-10-1. Epub 2023 Dec 6. J Clin Res Pediatr Endocrinol. 2024. PMID: 38054413 Free PMC article.

[Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].

Dong R, Yang Y, Guo H, Gao M, Lyu Y, Li Y, Yang X, Liu Y. Dong R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1508-1511. doi: 10.3760/cma.j.cn511374-20210702-00565. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994132 Chinese.

[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].

Zhang J, Gan J, Yang Z, Wang J. Zhang J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1504-1507. doi: 10.3760/cma.j.cn511374-20220629-00442. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994131 Chinese.

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