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Items: 1 to 50 of 347

1.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G.

Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.

2.

Understanding HIV Risk Behaviors Among Young Men in South Africa: A Syndemic Approach.

Okafor CN, Christodoulou J, Bantjes J, Qondela T, Stewart J, Shoptaw S, Tomlinson M, Rotherman-Borus MJ.

AIDS Behav. 2018 Jul 12. doi: 10.1007/s10461-018-2227-x. [Epub ahead of print]

PMID:
30003507
3.

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.

Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P, Christodoulou J, Elliott EJ, Leonard H.

J Pediatr. 2018 Jun 22. pii: S0022-3476(18)30604-8. doi: 10.1016/j.jpeds.2018.04.050. [Epub ahead of print]

PMID:
29941161
4.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J.

Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.

PMID:
29909962
5.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.

PMID:
29852413
6.

Rare disease: a national survey of paediatricians' experiences and needs.

Zurynski Y, Gonzalez A, Deverell M, Phu A, Leonard H, Christodoulou J, Elliott E.

BMJ Paediatr Open. 2017 Oct 5;1(1):e000172. doi: 10.1136/bmjpo-2017-000172. eCollection 2017.

7.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

8.

Arts Syndrome.

de Brouwer APM, Christodoulou J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Oct 21 [updated 2018 Mar 22].

9.

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Nafisinia M, Menezes MJ, Gold WA, Riley L, Hatch J, Cardinal J, Coman D, Christodoulou J.

Mol Genet Metab. 2018 Mar;123(3):382-387. doi: 10.1016/j.ymgme.2018.01.007. Epub 2018 Feb 2.

PMID:
29398271
10.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD.

Mitochondrion. 2018 Jan 4. pii: S1567-7249(17)30089-2. doi: 10.1016/j.mito.2018.01.001. [Epub ahead of print]

PMID:
29307858
11.

Overt and covert attention in infants revealed using steady-state visually evoked potentials.

Christodoulou J, Leland DS, Moore DS.

Dev Psychol. 2018 May;54(5):803-815. doi: 10.1037/dev0000486. Epub 2017 Dec 28.

PMID:
29283596
12.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
13.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

14.

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.

Gold WA, Krishnarajy R, Ellaway C, Christodoulou J.

ACS Chem Neurosci. 2018 Feb 21;9(2):167-176. doi: 10.1021/acschemneuro.7b00346. Epub 2017 Dec 15.

PMID:
29185709
15.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J.

JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_71. [Epub ahead of print]

PMID:
29159459
16.

A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.

Prasad R, Estrella J, Christodoulou J, McKellar G, Tchan MC.

JIMD Rep. 2017 Nov 9. doi: 10.1007/8904_2017_67. [Epub ahead of print]

PMID:
29119402
17.

Application of Lysine-specific Labeling to Detect Transient Interactions Present During Human Lysozyme Amyloid Fibril Formation.

Ahn M, Waudby CA, Bernardo-Gancedo A, De Genst E, Dhulesia A, Salvatella X, Christodoulou J, Dobson CM, Kumita JR.

Sci Rep. 2017 Nov 3;7(1):15018. doi: 10.1038/s41598-017-14739-5.

18.

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. No abstract available.

19.

Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

Ryder B, Moore F, Mitchell A, Thompson S, Christodoulou J, Balasubramaniam S.

JIMD Rep. 2018;40:77-83. doi: 10.1007/8904_2017_65. Epub 2017 Oct 21.

PMID:
29052812
20.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z.

Clin Genet. 2017 Oct 10. doi: 10.1111/cge.13153. [Epub ahead of print] Review.

PMID:
29023665
21.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Nafisinia M, Sobreira N, Riley L, Gold W, Uhlenberg B, Weiß C, Boehm C, Prelog K, Ouvrier R, Christodoulou J.

Eur J Hum Genet. 2017 Oct;25(10):1134-1141. doi: 10.1038/ejhg.2017.119. Epub 2017 Jul 26.

PMID:
28905880
22.

Dispelling the Myth: Training in Education or Neuroscience Decreases but Does Not Eliminate Beliefs in Neuromyths.

Macdonald K, Germine L, Anderson A, Christodoulou J, McGrath LM.

Front Psychol. 2017 Aug 10;8:1314. doi: 10.3389/fpsyg.2017.01314. eCollection 2017.

23.

To evaluate if increased supervision and support of South African Government health workers' home visits improves maternal and child outcomes: study protocol for a randomized control trial.

Rotheram-Borus MJ, Le Roux K, Le Roux IM, Christodoulou J, Laurenzi C, Mbewu N, Tomlinson M.

Trials. 2017 Aug 7;18(1):368. doi: 10.1186/s13063-017-2074-5.

24.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713.

25.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
26.

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Nafisinia M, Riley LG, Gold WA, Bhattacharya K, Broderick CR, Thorburn DR, Simons C, Christodoulou J.

PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017.

27.

Socioeconomic Status and Reading Disability: Neuroanatomy and Plasticity in Response to Intervention.

Romeo RR, Christodoulou JA, Halverson KK, Murtagh J, Cyr AB, Schimmel C, Chang P, Hook PE, Gabrieli JDE.

Cereb Cortex. 2018 Jul 1;28(7):2297-2312. doi: 10.1093/cercor/bhx131.

PMID:
28591795
28.

Babies and math: A meta-analysis of infants' simple arithmetic competence.

Christodoulou J, Lac A, Moore DS.

Dev Psychol. 2017 Aug;53(8):1405-1417. doi: 10.1037/dev0000330. Epub 2017 Jun 5. Review.

PMID:
28581312
29.

The ribosome and its role in protein folding: looking through a magnifying glass.

Javed A, Christodoulou J, Cabrita LD, Orlova EV.

Acta Crystallogr D Struct Biol. 2017 Jun 1;73(Pt 6):509-521. doi: 10.1107/S2059798317007446. Epub 2017 May 31. Review.

30.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC.

Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2.

PMID:
28574218
31.

RettBASE: Rett syndrome database update.

Krishnaraj R, Ho G, Christodoulou J.

Hum Mutat. 2017 Aug;38(8):922-931. doi: 10.1002/humu.23263. Epub 2017 Jun 9.

PMID:
28544139
32.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.

PMID:
28409271
33.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, Johnson S, Christodoulou J, Leonard H, Elliott EJ; APSU Rare Diseases Impacts on Families Study group.

Orphanet J Rare Dis. 2017 Apr 11;12(1):68. doi: 10.1186/s13023-017-0622-4.

34.

Dysfunction of Rapid Neural Adaptation in Dyslexia.

Perrachione TK, Del Tufo SN, Winter R, Murtagh J, Cyr A, Chang P, Halverson K, Ghosh SS, Christodoulou JA, Gabrieli JDE.

Neuron. 2016 Dec 21;92(6):1383-1397. doi: 10.1016/j.neuron.2016.11.020.

35.

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J.

J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.

PMID:
27995398
36.

The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme.

Ahn M, Hagan CL, Bernardo-Gancedo A, De Genst E, Newby FN, Christodoulou J, Dhulesia A, Dumoulin M, Robinson CV, Dobson CM, Kumita JR.

Biophys J. 2016 Dec 6;111(11):2358-2367. doi: 10.1016/j.bpj.2016.10.028.

37.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

38.

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H.

Neurology. 2016 Nov 22;87(21):2206-2213. Epub 2016 Oct 21.

PMID:
27770071
39.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J.

Eur J Hum Genet. 2016 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19.

40.

Seeing double: 5-month-olds' mental rotation of dynamic, 3D block stimuli presented on dual monitors.

Christodoulou J, Johnson SP, Moore DM, Moore DS.

Infant Behav Dev. 2016 Nov;45(Pt A):64-70. doi: 10.1016/j.infbeh.2016.09.005. Epub 2016 Oct 12.

PMID:
27744109
41.

When left-hemisphere reading is compromised: Comparing reading ability in participants after left cerebral hemispherectomy and participants with developmental dyslexia.

Katzir T, Christodoulou JA, de Bode S.

Epilepsia. 2016 Oct;57(10):1602-1609. doi: 10.1111/epi.13507. Epub 2016 Aug 30.

42.

Functional abilities in children and adults with the CDKL5 disorder.

Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H.

Am J Med Genet A. 2016 Nov;170(11):2860-2869. doi: 10.1002/ajmg.a.37851. Epub 2016 Aug 16.

PMID:
27528505
43.

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Menezes MP, Rahman S, Bhattacharya K, Clark D, Christodoulou J, Ellaway C, Farrar M, Pitt M, Sampaio H, Ware TL, Wedatilake Y, Thorburn DR, Ryan MM, Ouvrier R.

Mitochondrion. 2016 Sep;30:162-7. doi: 10.1016/j.mito.2016.07.014. Epub 2016 Jul 27.

PMID:
27475922
44.

A strategy for co-translational folding studies of ribosome-bound nascent chain complexes using NMR spectroscopy.

Cassaignau AM, Launay HM, Karyadi ME, Wang X, Waudby CA, Deckert A, Robertson AL, Christodoulou J, Cabrita LD.

Nat Protoc. 2016 Aug;11(8):1492-507. doi: 10.1038/nprot.2016.101. Epub 2016 Jul 28.

PMID:
27466710
45.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. Erratum in: JIMD Rep. 2017;33:111.

46.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J.

JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26.

47.

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F.

Mol Genet Metab. 2016 Jul;118(3):178-84. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20.

PMID:
27312126
48.

Two-Dimensional NMR Lineshape Analysis.

Waudby CA, Ramos A, Cabrita LD, Christodoulou J.

Sci Rep. 2016 Apr 25;6:24826. doi: 10.1038/srep24826.

49.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R.

Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.

PMID:
27102574
50.

Structural characterization of the interaction of α-synuclein nascent chains with the ribosomal surface and trigger factor.

Deckert A, Waudby CA, Wlodarski T, Wentink AS, Wang X, Kirkpatrick JP, Paton JF, Camilloni C, Kukic P, Dobson CM, Vendruscolo M, Cabrita LD, Christodoulou J.

Proc Natl Acad Sci U S A. 2016 May 3;113(18):5012-7. doi: 10.1073/pnas.1519124113. Epub 2016 Apr 18.

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