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Extraocular muscle function is impaired in ryr3 -/- mice.

Eckhardt J, Bachmann C, Sekulic-Jablanovic M, Enzmann V, Park KH, Ma J, Takeshima H, Zorzato F, Treves S.

J Gen Physiol. 2019 Jul 1;151(7):929-943. doi: 10.1085/jgp.201912333. Epub 2019 May 13.


Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Elbaz M, Ruiz A, Bachmann C, Eckhardt J, Pelczar P, Venturi E, Lindsay C, Wilson AD, Alhussni A, Humberstone T, Pietrangelo L, Boncompagni S, Sitsapesan R, Treves S, Zorzato F.

Hum Mol Genet. 2019 May 2. pii: ddz092. doi: 10.1093/hmg/ddz092. [Epub ahead of print]


Update: Image Gently and Nuclear Medicine at 10 Years.

Treves ST, Gelfand M, Parisi M, Lassmann M, Goske M, Sexton-Stallone B, Fahey F.

J Nucl Med. 2019 Apr;60(4):7N-9N. No abstract available.


Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Apr 1. doi: 10.1002/humu.23745. [Epub ahead of print]


Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F.

Hum Mol Genet. 2019 Jun 1;28(11):1872-1884. doi: 10.1093/hmg/ddz025.


Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

van Ruitenbeek E, Custers JAE, Verhaak C, Snoeck M, Erasmus CE, Kamsteeg EJ, Schouten MI, Coleman C, Treves S, Van Engelen BG, Jungbluth H, Voermans NC.

Neuromuscul Disord. 2019 Jan;29(1):30-38. doi: 10.1016/j.nmd.2018.10.006. Epub 2018 Nov 9.


STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, Böhm J.

Hum Mol Genet. 2019 May 15;28(10):1579-1593. doi: 10.1093/hmg/ddy446.


Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics.

Stamoulis C, Connolly J, Axeen E, Kaulas H, Bolton J, Dorfman K, Halford JJ, Duffy FH, Treves ST, Pearl PL.

IEEE Trans Biomed Eng. 2018 Nov 9. doi: 10.1109/TBME.2018.2880575. [Epub ahead of print]


Chronic Acalculous Cholecystitis in Children With Biliary Symptoms: Usefulness of Hepatocholescintigraphy.

Kwatra NS, Nurko S, Stamoulis C, Falone AE, Grant FD, Treves ST.

J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):68-73. doi: 10.1097/MPG.0000000000002151.


STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.


Re-evaluation of pediatric 18F-FDG dosimetry: Cristy-Eckerman versus UF/NCI hybrid computational phantoms.

Khamwan K, O'Reilly SE, Plyku D, Goodkind A, Josefsson A, Cao X, Fahey FH, Treves ST, Bolch WE, Sgouros G.

Phys Med Biol. 2018 Aug 14;63(16):165012. doi: 10.1088/1361-6560/aad47a.


A projection image database to investigate factors affecting image quality in weight-based dosing: application to pediatric renal SPECT.

Li Y, O'Reilly S, Plyku D, Treves ST, Du Y, Fahey F, Cao X, Jha AK, Sgouros G, Bolch WE, Frey EC.

Phys Med Biol. 2018 Jul 9;63(14):145004. doi: 10.1088/1361-6560/aacbf0.


Standardization of Administered Activities in Pediatric Nuclear Medicine.

Fahey FH, Treves ST.

J Am Coll Radiol. 2018 Apr;15(4):695-696. doi: 10.1016/j.jacr.2017.11.024. No abstract available.


Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F.

Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Review.


Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Ruiz A, Dror E, Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S, Zorzato F.

Sci Rep. 2018 Jan 12;8(1):636. doi: 10.1038/s41598-017-18844-3.


Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG.

Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.


Availability of 99mTc-DMSA.

Paolino J, Treves ST.

J Nucl Med. 2017 Nov;58(11):16N. No abstract available.


Operational and Dosimetric Aspects of Pediatric PET/CT.

Fahey FH, Goodkind A, MacDougall RD, Oberg L, Ziniel SI, Cappock R, Callahan MJ, Kwatra N, Treves ST, Voss SD.

J Nucl Med. 2017 Sep;58(9):1360-1366. doi: 10.2967/jnumed.116.182899. Epub 2017 Jul 7. Review.


Dose Estimation in Pediatric Nuclear Medicine.

Fahey FH, Goodkind AB, Plyku D, Khamwan K, O'Reilly SE, Cao X, Frey EC, Li Y, Bolch WE, Sgouros G, Treves ST.

Semin Nucl Med. 2017 Mar;47(2):118-125. doi: 10.1053/j.semnuclmed.2016.10.006. Epub 2016 Nov 9. Review.


Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.


Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.

Hum Mol Genet. 2017 Jan 15;26(2):320-332. doi: 10.1093/hmg/ddw388.


The promise of subtraction ictal SPECT co-registered to MRI for improved seizure localization in pediatric epilepsies: Affecting factors and relationship to the surgical outcome.

Stamoulis C, Verma N, Kaulas H, Halford JJ, Duffy FH, Pearl PL, Treves ST.

Epilepsy Res. 2017 Jan;129:59-66. doi: 10.1016/j.eplepsyres.2016.11.020. Epub 2016 Nov 30.


2016 Update of the North American Consensus Guidelines for Pediatric Administered Radiopharmaceutical Activities.

Treves ST, Gelfand MJ, Fahey FH, Parisi MT.

J Nucl Med. 2016 Dec;57(12):15N-18N. No abstract available.


Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco RS, Snoeck M, Quinlivan R, Treves S, Laforét P, Jungbluth H, Voermans NC.

BMJ Open Sport Exerc Med. 2016 Sep 7;2(1):e000151. eCollection 2016.


Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles.

Mosca B, Eckhardt J, Bergamelli L, Treves S, Bongianino R, De Negri M, Priori SG, Protasi F, Zorzato F.

J Biol Chem. 2016 Sep 23;291(39):20824. doi: 10.1074/jbc.A115.709071. No abstract available.


Estimation of Split Renal Function With 99mTc-DMSA SPECT: Comparison Between 3D Volumetric Assessment and 2D Coronal Projection Imaging.

Cao X, Xu X, Grant FD, Treves ST.

AJR Am J Roentgenol. 2016 Dec;207(6):1324-1328. Epub 2016 Sep 13.


Current and future therapeutic approaches to the congenital myopathies.

Jungbluth H, Ochala J, Treves S, Gautel M.

Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Review.


Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Treves S, Jungbluth H, Voermans N, Muntoni F, Zorzato F.

Semin Cell Dev Biol. 2017 Apr;64:201-212. doi: 10.1016/j.semcdb.2016.07.017. Epub 2016 Jul 15. Review.


An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H.

Sci Signal. 2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813.


Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

Mosca B, Eckhardt J, Bergamelli L, Treves S, Bongianino R, De Negri M, Priori SG, Protasi F, Zorzato F.

J Biol Chem. 2016 Jul 8;291(28):14555-65. doi: 10.1074/jbc.M115.709071. Epub 2016 May 4. Erratum in: J Biol Chem. 2016 Sep 23;291(39):20824.


Functional characterization of orbicularis oculi and extraocular muscles.

Sekulic-Jablanovic M, Ullrich ND, Goldblum D, Palmowski-Wolfe A, Zorzato F, Treves S.

J Gen Physiol. 2016 May;147(5):395-406. doi: 10.1085/jgp.201511542. Epub 2016 Apr 11.


Administered Activities in Pediatric Nuclear Medicine and the Impact of the 2010 North American Consensus Guidelines on General Hospitals in the United States.

Fahey FH, Ziniel SI, Manion D, Baker A, Treves ST.

J Nucl Med. 2016 Sep;57(9):1478-85. doi: 10.2967/jnumed.116.172148. Epub 2016 Apr 7.


Pharmacokinetic modeling of [(18)F]fluorodeoxyglucose (FDG) for premature infants, and newborns through 5-year-olds.

Khamwan K, Plyku D, O'Reilly SE, Goodkind A, Cao X, Fahey FH, Treves ST, Bolch WE, Sgouros G.

EJNMMI Res. 2016 Dec;6(1):28. doi: 10.1186/s13550-016-0179-6. Epub 2016 Mar 17.


"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies.

Snoeck M, Treves S, Molenaar JP, Kamsteeg EJ, Jungbluth H, Voermans NC.

Cell Biochem Biophys. 2016 Mar;74(1):85-7. doi: 10.1007/s12013-015-0704-7. No abstract available.


The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect.

Wang M, Keogh A, Treves S, Idle JR, Beyoğlu D.

PeerJ. 2016 Jan 26;4:e1624. doi: 10.7717/peerj.1624. eCollection 2016.


Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.

Johannsen S, Treves S, Müller CR, Mögele S, Schneiderbanger D, Roewer N, Schuster F.

Neuromuscul Disord. 2016 Jan;26(1):21-5. doi: 10.1016/j.nmd.2015.11.001. Epub 2015 Nov 11.


(18)F-labeled rhodamines as potential myocardial perfusion agents: comparison of pharmacokinetic properties of several rhodamines.

Bartholomä MD, Zhang S, Akurathi V, Pacak CA, Dunning P, Fahey FH, Cowan DB, Treves ST, Packard AB.

Nucl Med Biol. 2015 Oct;42(10):796-803. doi: 10.1016/j.nucmedbio.2015.06.008. Epub 2015 Jun 18.


Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S.

Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27.


RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ.

Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11.


Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S.

Neuromuscul Disord. 2015 Jul;25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. Epub 2015 Apr 27.


Effects of Image Gently and the North American guidelines: administered activities in children at 13 North American pediatric hospitals.

Fahey FH, Ziniel SI, Manion D, Treves ST.

J Nucl Med. 2015 Jun;56(6):962-7. doi: 10.2967/jnumed.114.148767. Epub 2015 Apr 30.


The ionic charge of copper-64 complexes conjugated to an engineered antibody affects biodistribution.

Dearling JL, Paterson BM, Akurathi V, Betanzos-Lara S, Treves ST, Voss SD, White JM, Huston JS, Smith SV, Donnelly PS, Packard AB.

Bioconjug Chem. 2015 Apr 15;26(4):707-17. doi: 10.1021/acs.bioconjchem.5b00049. Epub 2015 Mar 12.


Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.

Lopez RJ, Mosca B, Treves S, Maj M, Bergamelli L, Calderon JC, Bentzinger CF, Romanino K, Hall MN, Rüegg MA, Delbono O, Caputo C, Zorzato F.

Biochem J. 2015 Feb 15;466(1):123-35. doi: 10.1042/BJ20140935.


Characterization of excitation-contraction coupling components in human extraocular muscles.

Sekulic-Jablanovic M, Palmowski-Wolfe A, Zorzato F, Treves S.

Biochem J. 2015 Feb 15;466(1):29-36. doi: 10.1042/BJ20140970.


Radiation doses for pediatric nuclear medicine studies: comparing the North American consensus guidelines and the pediatric dosage card of the European Association of Nuclear Medicine.

Grant FD, Gelfand MJ, Drubach LA, Treves ST, Fahey FH.

Pediatr Radiol. 2015 Apr;45(5):706-13. doi: 10.1007/s00247-014-3211-x. Epub 2014 Nov 1.


Beyond current guidelines: reduction in minimum administered radiopharmaceutical activity with preserved diagnostic image quality in pediatric hepatobiliary scintigraphy.

Fahey F, Zukotynski K, Zurakowski D, Markelewicz R, Falone A, Vitello M, Cao X, Grant F, Drubach L, Vija AH, Bhattacharya M, Ding X, Bar-Sever Z, Gelfand M, Treves ST.

Eur J Nucl Med Mol Imaging. 2014 Dec;41(12):2346-53. doi: 10.1007/s00259-014-2860-1. Epub 2014 Aug 6.


SNMMI and EANM practice guideline for meckel diverticulum scintigraphy 2.0.

Spottswood SE, Pfluger T, Bartold SP, Brandon D, Burchell N, Delbeke D, Fink-Bennett DM, Hodges PK, Jolles PR, Lassmann M, Maurer AH, Seabold JE, Stabin MG, Treves ST, Vlajkovic M; Society of Nuclear Medicine and Molecular Imaging; European Association of Nuclear Medicine.

J Nucl Med Technol. 2014 Sep;42(3):163-9. doi: 10.2967/jnmt.113.136242. Epub 2014 Jun 19. No abstract available. Erratum in: J Nucl Med Technol. 2016 Mar;44(1):51.


Pediatric Radiopharmaceutical Administration: harmonization of the 2007 EANM Paediatric Dosage Card (Version 1.5.2008) and the 2010 North American Consensus guideline.

Lassmann M, Treves ST.

Eur J Nucl Med Mol Imaging. 2014 Aug;41(8):1636. doi: 10.1007/s00259-014-2817-4. No abstract available.


Pediatric nuclear medicine and radiation dose.

Treves ST, Falone AE, Fahey FH.

Semin Nucl Med. 2014 May;44(3):202-9. doi: 10.1053/j.semnuclmed.2014.03.009. Review.


International guidelines for pediatric radiopharmaceutical administered activities.

Treves ST, Lassmann M; EANM/SNMMI Pediatric Dosage Harmonization Working Group.

J Nucl Med. 2014 Jun;55(6):869-70. doi: 10.2967/jnumed.114.139980. Epub 2014 Apr 17. No abstract available.

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