PubMed for id: 155629

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34337151,31514193,27582254,26677510,24212238,22032306,15364701,29605618,27001828,24485911,23659519,22537104,22050460,21782476,19847901,19469843,18308289,33772352,32911077,29941711,26743566,26018676,24389070,19933215,38397161,38382469,38382230,38341935,38287677,38275603,38266642,38247861,38231304,38070824,38012464,37951142,37895210,37700152,37683310,37658439,37616028,37605213,37573956,37550174,37536959,37280710,37249665,37243799,37231125,37216715,37114479,37059210,36945313,36928678,36899857,36830643,36810721,36809552,36751956,36719163,36707971,36674605,36638890,36526090,36511140,36469720,36419348,36359887,36325744,36309462,36303102,36210672,36192771,36098450,35972048,35922766,35886028,35743315,35708461,35569391,35505348,35346091,35257260,35184210,35084461,35034233,34866617,34837344,34787084,34700111,34486182,34474241,34433719,34399803,34377212,34301405,34263924,34218423,34117373,34092044,34034154,34022586,33993268,33970744,33960213,33946009,33865103,33798445,33784396,33783721,33773408,33766967,33735526,33432562,33368637,33280099,33277363,33152654,33112121,33085104,32972906,32938505,32920378,32875576,32785985,32711193,32626992,32577866,32538863,32449975,32440981,32418279,32409007,32378798,32342326,32301727,32169168,32115907,32105965,32061767,31932179,31858178,31762033,31758957,31755148,31682953,31493762,31476531,31374462,31368437,31353862,31353855,31216804,31175897,31042462,31035234,30955266,30954670,30825425,30797798,30767895,30760880,30638256,30614396,30564977,30504111,30409749,30382391,30372687,30336494,30334528,30270337,30143794,30041081,30032677,30012581,29984755,29978618,29960149,29941710,29933571,29894724,29891056,29760464,29740017,29645350,29645070,29642155,29513487,29449072,29428275,29407793,29352102,29288969,29174892,29169047,28982678,28978487,28931642,28800070,28767715,28688853,28631894,28630220,28607632,28556688,28432641,28328248,28251733,28238966,28166365,28131202,27934592,27888502,27854233,27747878,27742667,27680221,27647482,27632409,27629860,27629772,27621064,27618929,27618868,27618766,27582036,27402852,27355630,27155576,27029465,27025901,26995359,26721932,26679672,26679169,26648032,26578817,26552558,26526000,26419000,26216881,26133964,26102034,26060909,26001801,25847462,25842919,25770194,25683376,25680286,25578555,25559684,25528830,25401298,25361775,25337734,25270369,25246353,25207879,25194486,25079578,25060828,25023721,25015673,24981774,24909779,24893590,24838580,24816443,24792523,24782409,24690255,24476000,24419970,24345642,24338029,24199594,24165736,24131995,24063889,23933208,23925991,23904258,23883076,23812307,23635963,23622396,23601850,23549648,23450475,23449775,23408434,23390135,23317923,23290212,23263592,23205931,23179085,23138527,23131811,23074842,23006856,22981260,22961547,22946725,22872568,22815132,22742457,22703880,22693283,22693147,22669944,22638997,22611618,22606975,22581592,22579594,22578008,22527233,22456482,22425593,22411789,22411243,22369717,22354625,22286658,22270878,22266889,22223637,22186026,22154554,22114216,22059368,22047982,22037590,22037425,22036712,21996807,21957023,21930129,21909428,21890497,21827919,21798009,21766266,21757863,21757738,21755114,21742036,21738631,21710140,21679777,21670406,21652633,21623095,21555062,21549339,21505799,21482188,21473984,21435071,21371719,21353634,21303704,21156839,21087195,21075014,20977674,20976001,20966051,20931525,20873469,20864683,20858601,20818165,20818153,20739785,20738377,20721566,20610441,20593193,20589872,20538597,20527995,20500452,20453062,20440095,20411357,20231860,20196398,20190488,20177121,20163446,20152902,20019223,19951852,19949558,19942244,19892702,19818631,19744044,19704079,19697886,19681162,19659750,19514013,19499178,19469842,19454373,19403557,19370769,19330236,19322595,19278689,19273760,19269823,19267391,19243074,19170735,19155171,19128396,19040628,19036738,18976727,18930887,18840399,18824390,18772492,18657354,18617530,18587046,18471127,18424452,18358403,18325013,18311786,18263761,18256682,18232333,18040113,18033035,18027567,17994572,17965145,17915579,17908927,17878308,17764634,17646401,17606885,17544574,17509003,17458528,17452581,17426666,17389303,17361551,17337485,17293137,17276742,17236134,17200493,17132941,17078058,17053148,17028542,17010495,17003839,16988654,16967484,16950819,16950817,16930946,16908559,16686650,16645216,16629770,16551460,16529633,16445904,16414077,16379547,16376507,16326059,16311711,16224730,16190947,16155205,16134145,16021330,16007676,15965049,15965045,15948186,15930137,15781812,15780491,15778103,15767514[uid]

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Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.

Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Quraishi IH, et al. Neurol Genet. 2021 Jul 28;7(5):e614. doi: 10.1212/NXG.0000000000000614. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34337151 Free PMC article.

Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.

Desbuissons G, Brocheriou I, Touchard G, Goujon JM, Méneret A, Isnard-Bagnis C. Desbuissons G, et al. Nephron. 2020;144(2):55-58. doi: 10.1159/000503067. Epub 2019 Sep 12. Nephron. 2020. PMID: 31514193

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Dibbens L, Schwake M, Saftig P, Rubboli G. Dibbens L, et al. Epileptic Disord. 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843. Epileptic Disord. 2016. PMID: 27582254 Review.

SCARB2-Related Action Myoclonus – Renal Failure Syndrome.

Xiao C, Ahn H, Kibrom S, Toro C. Xiao C, et al. 2015 Dec 17 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Dec 17 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26677510 Free Books & Documents. Review.

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.

Gaspar P, Kallemeijn WW, Strijland A, Scheij S, Van Eijk M, Aten J, Overkleeft HS, Balreira A, Zunke F, Schwake M, Sá Miranda C, Aerts JM. Gaspar P, et al. J Lipid Res. 2014 Jan;55(1):138-45. doi: 10.1194/jlr.M043802. Epub 2013 Nov 8. J Lipid Res. 2014. PMID: 24212238 Free PMC article.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. Badhwar A, et al. Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13. Brain. 2004. PMID: 15364701

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Tian WT, Liu XL, Xu YQ, Huang XJ, Zhou HY, Wang Y, Tang HD, Chen SD, Luan XH, Cao L. Tian WT, et al. Seizure. 2018 Apr;57:80-86. doi: 10.1016/j.seizure.2018.03.015. Epub 2018 Mar 14. Seizure. 2018. PMID: 29605618 Free article. Review.

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.

Zunke F, Andresen L, Wesseler S, Groth J, Arnold P, Rothaug M, Mazzulli JR, Krainc D, Blanz J, Saftig P, Schwake M. Zunke F, et al. Proc Natl Acad Sci U S A. 2016 Apr 5;113(14):3791-6. doi: 10.1073/pnas.1514005113. Epub 2016 Mar 21. Proc Natl Acad Sci U S A. 2016. PMID: 27001828 Free PMC article.

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A. Zeigler M, et al. J Neurol Sci. 2014 Apr 15;339(1-2):210-3. doi: 10.1016/j.jns.2014.01.022. Epub 2014 Jan 23. J Neurol Sci. 2014. PMID: 24485911

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