PubMed for id: 333129

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38186851,37766778,37274027,35819538,35373813,34983810,34678889,34120322,33099310,32713659,31543794,31456429,30755903,30291563,30100179,30022751,29921875,28743048,27666369,27452399,27066583,26947546,26125038,26115735,24333136,23651859,23172002,22944248,22616474,21349718,20083416,20022607,19838571,19446480,19022746,18854521,18513927,18504678,18076719,16908579,16896309,16832102,16200211,15968934,15542387,12891655,12808501,12563091,12395135,12075493,11238684,11105628,11055672,10840402,10762520,10565594,10328280,9394605,9315501,9091844,8972535,8830173,8737801,8552220,8460530,8352158,8330584,8248057,8228034,8200987,8183758,8053766,7955727,7586637,7477729,7394470,7267226,7087284,4089420,4000402,3728402,3644852,3472486,3148848,2988414,2741845,2739435,2651967,2514400,2070547,1650034,1473543,720359,565491,38419071,38214124,37798908,37394437,37239332,36891747,36849228,36773198,36685504,36599696,36571524,36527993,36029610,35843310,35740965,35727525,35348941,35165146,35147173,34953623,34453469,34189822,34042169,33152950,32928829,32920940,32369837,31536827,31048081,30903322,30903008,30392057,30385166,30346566,30287594,30115503,29783990,29695388,29367704,29340523,28984604,28954393,28747166,28335020,27900365,27411419,27391332,27343026,26917597,26888482,26805434,26608563,26589966,26553058,26282322,25978847,25522933,25310959,25237746,25227173,24995871,24691472,24300241,23454488,23452914,23432717,23122324,22722545,22476991,22367235,22149989,21959744,21957246,21880993,21278747,21149846,20220442,20002125,19766516,19689519,19118815,18993038,18842453,18679822,18593870,18319513,17403714,17158010,16900932,16879196,16473305,16368237,16183799,16175383,15773042,15701315,15662687,15499950,15303808,15074378,12911136,12670038,12624136,12180070,11781063,11738873,11673581,11521212,11453451,11224930,11106281,10963105,10827106,10804743,10641610,10564527,10441325,10332042,10029353,9706629,9571187,9380435,9291939,9168904,9063409,9051778,8737823,8666375,8661106,8644710,8606564,8592332,8484399,8330585,8301648,8279474,7915028,7914464,7887418,7726379,6896729,6832496,3627426,3473487,3005158,2649243,2265825,2119302,2071142,1989385,1660181,1565214,1333572,231748,200054,28483998,20534480,9342252,38724215,38714209,38546112,38494274,38491726,38485688,38419707,38282559,38092980,37955252,37868552,37773718,37717662,37469762,37277873,37261298,37009381,36829045,36729192,36561237,36415754,36405817,36364826,36302385,36247768,36176336,35866745,35786633,35774113,35630081,35627432,35617091,35382765,35326665,35203994,35155297,35134437,35110279,34952263,34911422,34753180,34449278,34392290,34322155,34177668,34175817,34056010,34025712,33916074,33904484,33613441,33457361,33360401,33233862,33229483,33047196,32528985,32374573,32322553,32165128,32043470,32021637,31952869,31808420,31775108,31753452,31433733,31258564,31230250,31183424,31139134,31061755,31000408,30948308,30567247,30520688,30478618,30458341,30297193,30112461,29961533,29904974,29877647,29867707,29785266,29770345,29735026,29675077,29621341,29577169,29444764,29397615,29384561,29095326,28933809,28889008,28873769,28867361,28604555,28534007,28529047,28413741,28114658,27834803,27803046,27653852,27499829,27408356,27222084,27072062,26881100,26855552,26843817,26835569,26764016,26759402,26610306,26589310,26369769,26257601,26247153,26235681,26143956,26076860,25610776,25609918,25561434,25479849,25250071,25177613,25114790,25020174,24935635,24919167,24814125,24778658,24568356,24522811,24465150,24453523,24443449,24408544,24381125,24354891,24132378,23925007,23917584,23827424,23666388,23419478,23246010,22974931,22937341,22904102,22788076,22673947,22593918,22028537,21897318,21886880,21775733,21709844,21596701,21397166,21269297,21144325,21070677,21029661,20674425,20635367,20581782,20445431,20438486,20397256,20214781,20064066,19779798,19707786,19539028,19530544,19517247,19364940,19321954,19220170,19205355,19077767,18769539,18720764,18714849,18671210,18564712,18551298,18504675,18479421,18437544,18362055,18263882,18186895,18065176,18026579,17984857,17907526,17597517,17586927,17471821,17401392,17385174,17292636,16842084,16810526,16775801,16682549,16512616,16483401,16417864,16327587,16199699,16108242,16105653,15996999,15926134,15918466,15906734,15902788,15852481,15694567,15603468,15521608,15457138,15181218,15158930,15137603,15080860,15077130,15002048,14738148,13932137,12900076,12890985,12868478,12818526,12783976,12599156,12218835,11889460,11847361,11773546,11701291[uid]

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Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy.

Ricci FS, Stanga S, Mezzanotte M, Marinaccio C, D'Alessandro R, Somà A, Sottemano S, Conio A, Morana G, Spada M, Boido M, Mongini TE. Ricci FS, et al. JIMD Rep. 2023 Dec 15;65(1):3-9. doi: 10.1002/jmd2.12400. eCollection 2024 Jan. JIMD Rep. 2023. PMID: 38186851 Free PMC article.

A Rare Case of Progressive Encephalopathy in a Sickle Cell Trait Patient: A Case Report.

Alzayadneh MA, Alsherbini KA. Alzayadneh MA, et al. Cureus. 2023 Sep 25;15(9):e45936. doi: 10.7759/cureus.45936. eCollection 2023 Sep. Cureus. 2023. PMID: 37766778 Free PMC article.

De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.

Ding L, Huang TT, Ying GH, Wang SY, Xu HF, Qian H, Rahman F, Lu XP, Guo H, Zheng G, Zhang G. Ding L, et al. World J Clin Cases. 2023 May 16;11(14):3340-3350. doi: 10.12998/wjcc.v11.i14.3340. World J Clin Cases. 2023. PMID: 37274027 Free PMC article.

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.

Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F. Maalej M, et al. Neurogenetics. 2022 Oct;23(4):257-270. doi: 10.1007/s10048-022-00696-3. Epub 2022 Jul 11. Neurogenetics. 2022. PMID: 35819538

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.

Vemireddy K, Panigrahy N, Lingappa L, Chirla D. Vemireddy K, et al. BMJ Case Rep. 2022 Jan 4;15(1):e246431. doi: 10.1136/bcr-2021-246431. BMJ Case Rep. 2022. PMID: 34983810 Free PMC article.

NAXE gene mutation-related progressive encephalopathy: A case report and literature review.

Chiu LW, Lin SS, Chen CH, Lin CH, Lee NC, Hong SY, Chou IC, Lin CL, Yang PY. Chiu LW, et al. Medicine (Baltimore). 2021 Oct 22;100(42):e27548. doi: 10.1097/MD.0000000000027548. Medicine (Baltimore). 2021. PMID: 34678889 Free PMC article.

A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.

Mohammadi P, Heidari M, Ashrafi MR, Mahdieh N, Garshasbi M. Mohammadi P, et al. Acta Neurol Belg. 2022 Oct;122(5):1201-1210. doi: 10.1007/s13760-021-01717-y. Epub 2021 Jun 13. Acta Neurol Belg. 2022. PMID: 34120322

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.

Pedicelli S, de Palma L, Pelosini C, Cappa M. Pedicelli S, et al. Ital J Pediatr. 2020 Oct 24;46(1):158. doi: 10.1186/s13052-020-00916-2. Ital J Pediatr. 2020. PMID: 33099310 Free PMC article.

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome.

Park JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Seong MW, Lee JS, Chae JH. Park JS, et al. Brain Dev. 2020 Oct;42(9):680-685. doi: 10.1016/j.braindev.2020.07.003. Epub 2020 Jul 24. Brain Dev. 2020. PMID: 32713659

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