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Items: 1 to 20 of 365

1.

Hypoglycemia in patients with congenital muscle disease.

Hayes LH, Yun P, Mohassel P, Norato G, Donkervoort S, Leach ME, Alvarez R, Rutkowski A, Shaw ND, Foley AR, Bönnemann CG.

BMC Pediatr. 2020 Feb 6;20(1):57. doi: 10.1186/s12887-020-1909-5.

2.

Identification of Clostridioides difficile-Inhibiting Gut Commensals Using Culturomics, Phenotyping, and Combinatorial Community Assembly.

Ghimire S, Roy C, Wongkuna S, Antony L, Maji A, Keena MC, Foley A, Scaria J.

mSystems. 2020 Feb 4;5(1). pii: e00620-19. doi: 10.1128/mSystems.00620-19.

3.

Genome mining and characterisation of a novel transaminase with remote stereoselectivity.

Gavin DP, Reen FJ, Rocha-Martin J, Abreu-Castilla I, Woods DF, Foley AM, Sánchez-Murcia PA, Schwarz M, O'Neill P, Maguire AR, O'Gara F.

Sci Rep. 2019 Dec 30;9(1):20285. doi: 10.1038/s41598-019-56612-7.

4.

A Focused Chiral Mutant Library of the Amyloid β 42 Central Electrostatic Cluster as a Tool To Stabilize Aggregation Intermediates.

Foley AR, Lee HW, Raskatov JA.

J Org Chem. 2020 Feb 7;85(3):1385-1391. doi: 10.1021/acs.joc.9b02312. Epub 2020 Jan 3.

PMID:
31875394
5.

A Facile Method for the Separation of Methionine Sulfoxide Diastereomers, Structural Assignment, and DFT Analysis.

Raskatov JA, Virgil S, Lee HW, Henling LM, Chan K, Kuhn AJ, Foley AR.

Chemistry. 2019 Dec 22. doi: 10.1002/chem.201904848. [Epub ahead of print]

PMID:
31867799
6.

Climate change and epilepsy: Time to take action.

Sisodiya SM, Fowler HJ, Lake I, Nanji RO, Gawel K, Esguerra CV, Newton C, Foley A.

Epilepsia Open. 2019 Sep 20;4(4):524-536. doi: 10.1002/epi4.12359. eCollection 2019 Dec. Review.

7.

Myeloid lineage enhancers drive oncogene synergy in CEBPA/CSF3R mutant acute myeloid leukemia.

Braun TP, Okhovat M, Coblentz C, Carratt SA, Foley A, Schonrock Z, Smith BM, Nevonen K, Davis B, Garcia B, LaTocha D, Weeder BR, Grzadkowski MR, Estabrook JC, Manning HG, Watanabe-Smith K, Jeng S, Smith JL, Leonti AR, Ries RE, McWeeney S, Di Genua C, Drissen R, Nerlov C, Meshinchi S, Carbone L, Druker BJ, Maxson JE.

Nat Commun. 2019 Nov 29;10(1):5455. doi: 10.1038/s41467-019-13364-2.

8.

Caryospora-Like Coccidia Infecting Green Turtles (Chelonia mydas): An Emerging Disease With Evidence of Interoceanic Dissemination.

Stacy BA, Chapman PA, Stockdale-Walden H, Work TM, Dagenais J, Foley AM, Wideroff M, Wellehan JFX Jr, Childress AL, Manire CA, Rodriguez M, Zachariah TT, Staggs L, Zirkelbach B, Nahvi N, Crowder W, Boylan SM, Marquardt S, Pelton C, Norton TM.

Front Vet Sci. 2019 Oct 22;6:372. doi: 10.3389/fvets.2019.00372. eCollection 2019.

9.

TAK1/Map3k7 enhances differentiation of cardiogenic endoderm from mouse embryonic stem cells.

Hunter A, Dai Y, Brown KJ, Muise-Helmericks RC, Foley AC.

J Mol Cell Cardiol. 2019 Dec;137:132-142. doi: 10.1016/j.yjmcc.2019.10.002. Epub 2019 Oct 24.

10.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG.

Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25.

PMID:
31653707
11.

Neurocognitive and social-communicative function of children born very preterm at 10 years of age: Associations with microorganisms recovered from the placenta parenchyma.

Tomlinson MS, Santos HP, Stewart JR, Joseph R, Leviton A, Onderdonk AB, Kuban KCK, Heeren T, O'Shea TM, Fry RC; ELGAN Study Investigators.

J Perinatol. 2020 Feb;40(2):306-315. doi: 10.1038/s41372-019-0505-8. Epub 2019 Oct 17.

12.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T.

Science. 2019 Oct 18;366(6463):351-356. doi: 10.1126/science.aay0256. Epub 2019 Oct 10.

PMID:
31601707
13.

Effects of Lidocaine and Src Inhibition on Metastasis in a Murine Model of Breast Cancer Surgery.

Wall TP, Crowley PD, Sherwin A, Foley AG, Buggy DJ.

Cancers (Basel). 2019 Sep 22;11(10). pii: E1414. doi: 10.3390/cancers11101414.

14.

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.

Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR.

Neurology. 2019 Oct 15;93(16):e1535-e1542. doi: 10.1212/WNL.0000000000008316. Epub 2019 Sep 20.

PMID:
31541013
15.

Inflation of 430-parsec bipolar radio bubbles in the Galactic Centre by an energetic event.

Heywood I, Camilo F, Cotton WD, Yusef-Zadeh F, Abbott TD, Adam RM, Aldera MA, Bauermeister EF, Booth RS, Botha AG, Botha DH, Brederode LRS, Brits ZB, Buchner SJ, Burger JP, Chalmers JM, Cheetham T, de Villiers D, Dikgale-Mahlakoana MA, du Toit LJ, Esterhuyse SWP, Fanaroff BL, Foley AR, Fourie DJ, Gamatham RRG, Goedhart S, Gounden S, Hlakola MJ, Hoek CJ, Hokwana A, Horn DM, Horrell JMG, Hugo B, Isaacson AR, Jonas JL, Jordaan JDBL, Joubert AF, Józsa GIG, Julie RPM, Kapp FB, Kenyon JS, Kotzé PPA, Kriel H, Kusel TW, Lehmensiek R, Liebenberg D, Loots A, Lord RT, Lunsky BM, Macfarlane PS, Magnus LG, Magozore CM, Mahgoub O, Main JPL, Malan JA, Malgas RD, Manley JR, Maree MDJ, Merry B, Millenaar R, Mnyandu N, Moeng IPT, Monama TE, Mphego MC, New WS, Ngcebetsha B, Oozeer N, Otto AJ, Passmoor SS, Patel AA, Peens-Hough A, Perkins SJ, Ratcliffe SM, Renil R, Rust A, Salie S, Schwardt LC, Serylak M, Siebrits R, Sirothia SK, Smirnov OM, Sofeya L, Swart PS, Tasse C, Taylor DT, Theron IP, Thorat K, Tiplady AJ, Tshongweni S, van Balla TJ, van der Byl A, van der Merwe C, van Dyk CL, Van Rooyen R, Van Tonder V, Van Wyk R, Wallace BH, Welz MG, Williams LP.

Nature. 2019 Sep;573(7773):235-237. doi: 10.1038/s41586-019-1532-5. Epub 2019 Sep 11.

PMID:
31511683
16.

Dominant collagen XII mutations cause a distal myopathy.

Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG.

Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11.

17.

Regression of Left Ventricular Mass in Athletes Undergoing Complete Detraining Is Mediated by Decrease in Intracellular but Not Extracellular Compartments.

Swoboda PP, Garg P, Levelt E, Broadbent DA, Zolfaghari-Nia A, Foley AJR, Fent GJ, Chew PG, Brown LA, Saunderson CE, Dall'Armellina E, Greenwood JP, Plein S.

Circ Cardiovasc Imaging. 2019 Sep;12(9):e009417. doi: 10.1161/CIRCIMAGING.119.009417. Epub 2019 Sep 11.

PMID:
31505947
18.

Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.

Ahmad OF, Saade D, Foley AR, Bönnemann C, Lehky T.

Muscle Nerve. 2019 Dec;60(6):E38-E40. doi: 10.1002/mus.26698. Epub 2019 Sep 30. No abstract available.

PMID:
31498902
19.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG.

J Neuromuscul Dis. 2019;6(4):475-483. doi: 10.3233/JND-190414.

PMID:
31498126
20.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

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