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Items: 1 to 50 of 119

1.

Nutritional practices in pediatric patients with neuromuscular disorders.

Chou E, Lindeback R, Sampaio H, Farrar MA.

Nutr Rev. 2020 Jan 22. pii: nuz109. doi: 10.1093/nutrit/nuz109. [Epub ahead of print]

PMID:
31968103
2.

Next generation sequencing of human enterovirus strains from an outbreak of enterovirus A71 shows applicability to outbreak investigations.

Stelzer-Braid S, Wynn M, Chatoor R, Scotch M, Ramachandran V, Teoh HL, Farrar MA, Sampaio H, Andrews PI, Craig ME, MacIntyre CR, Varadhan H, Kesson A, Britton PN, Newcombe J, Rawlinson WD.

J Clin Virol. 2020 Jan;122:104216. doi: 10.1016/j.jcv.2019.104216. Epub 2019 Nov 17.

PMID:
31790967
3.

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Jones HF, Bryen SJ, Waddell LB, Bournazos A, Davis M, Farrar MA, McLean CA, Mowat DR, Sampaio H, Woodcock IR, Ryan MM, Jones KJ, Cooper ST.

Neuromuscul Disord. 2019 Dec;29(12):913-919. doi: 10.1016/j.nmd.2019.09.013. Epub 2019 Sep 25.

PMID:
31706698
4.

B-1a cells acquire their unique characteristics by bypassing the pre-BCR selection stage.

Wong JB, Hewitt SL, Heltemes-Harris LM, Mandal M, Johnson K, Rajewsky K, Koralov SB, Clark MR, Farrar MA, Skok JA.

Nat Commun. 2019 Oct 18;10(1):4768. doi: 10.1038/s41467-019-12824-z.

5.

The implementation of newborn screening for spinal muscular atrophy: the Australian experience.

Kariyawasam DST, Russell JS, Wiley V, Alexander IE, Farrar MA.

Genet Med. 2019 Oct 14. doi: 10.1038/s41436-019-0673-0. [Epub ahead of print]

PMID:
31607747
6.

Regulatory T Cell Development in the Thymus.

Owen DL, Sjaastad LE, Farrar MA.

J Immunol. 2019 Oct 15;203(8):2031-2041. doi: 10.4049/jimmunol.1900662. Review.

PMID:
31591259
7.

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy.

Kariyawasam DST, D'Silva A, Lin C, Ryan MM, Farrar MA.

Front Neurol. 2019 Aug 19;10:898. doi: 10.3389/fneur.2019.00898. eCollection 2019. Review.

8.

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.

9.

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials.

Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S.

CNS Drugs. 2019 Sep;33(9):919-932. doi: 10.1007/s40263-019-00656-w.

10.

JAK/STAT inhibition in macrophages promotes therapeutic resistance by inducing expression of protumorigenic factors.

Irey EA, Lassiter CM, Brady NJ, Chuntova P, Wang Y, Knutson TP, Henzler C, Chaffee TS, Vogel RI, Nelson AC, Farrar MA, Schwertfeger KL.

Proc Natl Acad Sci U S A. 2019 Jun 18;116(25):12442-12451. doi: 10.1073/pnas.1816410116. Epub 2019 May 30.

11.

"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being.

Wan HWY, Carey KA, D'Silva A, Kasparian NA, Farrar MA.

Orphanet J Rare Dis. 2019 Apr 2;14(1):74. doi: 10.1186/s13023-019-1052-2.

12.

The lineage stability and suppressive program of regulatory T cells require protein O-GlcNAcylation.

Liu B, Salgado OC, Singh S, Hippen KL, Maynard JC, Burlingame AL, Ball LE, Blazar BR, Farrar MA, Hogquist KA, Ruan HB.

Nat Commun. 2019 Jan 21;10(1):354. doi: 10.1038/s41467-019-08300-3.

13.

Thymic regulatory T cells arise via two distinct developmental programs.

Owen DL, Mahmud SA, Sjaastad LE, Williams JB, Spanier JA, Simeonov DR, Ruscher R, Huang W, Proekt I, Miller CN, Hekim C, Jeschke JC, Aggarwal P, Broeckel U, LaRue RS, Henzler CM, Alegre ML, Anderson MS, August A, Marson A, Zheng Y, Williams CB, Farrar MA.

Nat Immunol. 2019 Feb;20(2):195-205. doi: 10.1038/s41590-018-0289-6. Epub 2019 Jan 14.

14.

Spinal muscular atrophy: A modifiable disease emerges.

Fitzgerald DA, Abel F, Jones KJ, Farrar MA.

Paediatr Respir Rev. 2018 Sep;28:1-2. doi: 10.1016/j.prrv.2018.07.001. Epub 2018 Jul 12. No abstract available.

PMID:
30414816
15.

Sleeping Beauty Screen Identifies RREB1 and Other Genetic Drivers in Human B-cell Lymphoma.

Rahrmann EP, Wolf NK, Otto GM, Heltemes-Harris L, Ramsey LB, Shu J, LaRue RS, Linden MA, Rathe SK, Starr TK, Farrar MA, Moriarity BS, Largaespada DA.

Mol Cancer Res. 2019 Feb;17(2):567-582. doi: 10.1158/1541-7786.MCR-18-0582. Epub 2018 Oct 24.

16.

Myotonic dystrophy type 1: clinical manifestations in children and adolescents.

Ho G, Carey KA, Cardamone M, Farrar MA.

Arch Dis Child. 2019 Jan;104(1):48-52. doi: 10.1136/archdischild-2018-314837. Epub 2018 Jun 5.

PMID:
29871899
17.

Chemotherapy-Induced Peripheral Neuropathy in Long-term Survivors of Childhood Cancer: Clinical, Neurophysiological, Functional, and Patient-Reported Outcomes.

Kandula T, Farrar MA, Cohn RJ, Mizrahi D, Carey K, Johnston K, Kiernan MC, Krishnan AV, Park SB.

JAMA Neurol. 2018 Aug 1;75(8):980-988. doi: 10.1001/jamaneurol.2018.0963. Erratum in: JAMA Neurol. 2018 Aug 1;75(8):1028.

18.

Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives.

Farrar MA, Carey KA, Paguinto SG, Chambers G, Kasparian NA.

BMJ Open. 2018 May 24;8(5):e020907. doi: 10.1136/bmjopen-2017-020907.

19.

Identification of Cellular Sources of IL-2 Needed for Regulatory T Cell Development and Homeostasis.

Owen DL, Mahmud SA, Vang KB, Kelly RM, Blazar BR, Smith KA, Farrar MA.

J Immunol. 2018 Jun 15;200(12):3926-3933. doi: 10.4049/jimmunol.1800097. Epub 2018 May 4.

20.

New and developing therapies in spinal muscular atrophy.

Kariyawasam D, Carey KA, Jones KJ, Farrar MA.

Paediatr Respir Rev. 2018 Sep;28:3-10. doi: 10.1016/j.prrv.2018.03.003. Epub 2018 Apr 5. Review.

PMID:
29703692
21.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

22.

Nusinersen for SMA: expanded access programme.

Farrar MA, Teoh HL, Carey KA, Cairns A, Forbes R, Herbert K, Holland S, Jones KJ, Menezes MP, Morrison M, Munro K, Villano D, Webster R, Woodcock IR, Yiu EM, Sampaio H, Ryan MM.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):937-942. doi: 10.1136/jnnp-2017-317412. Epub 2018 Mar 16.

PMID:
29549190
23.

Cannabis for paediatric epilepsy: challenges and conundrums.

Chen KA, Farrar MA, Cardamone M, Lawson JA.

Med J Aust. 2018 Feb 19;208(3):132-136.

PMID:
29438649
24.

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK.

Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.

25.

Multimodal quantitative examination of nerve function in colorectal cancer patients prior to chemotherapy.

Kandula T, Farrar MA, Krishnan AV, Murray J, Timmins HC, Goldstein D, Lin CS, Kiernan MC, Park SB.

Muscle Nerve. 2018 Apr;57(4):615-621. doi: 10.1002/mus.25968. Epub 2017 Sep 30.

PMID:
28881477
26.

Combination therapeutics of Nilotinib and radiation in acute lymphoblastic leukemia as an effective method against drug-resistance.

Kaveh K, Takahashi Y, Farrar MA, Storme G, Guido M, Piepenburg J, Penning J, Foo J, Leder KZ, Hui SK.

PLoS Comput Biol. 2017 Jul 6;13(7):e1005482. doi: 10.1371/journal.pcbi.1005482. eCollection 2017 Jul.

27.

STAT5 deletion in macrophages alters ductal elongation and branching during mammary gland development.

Brady NJ, Farrar MA, Schwertfeger KL.

Dev Biol. 2017 Aug 1;428(1):232-244. doi: 10.1016/j.ydbio.2017.06.007. Epub 2017 Jun 9.

28.

Neurophysiological and clinical outcomes in chemotherapy-induced neuropathy in cancer.

Kandula T, Farrar MA, Kiernan MC, Krishnan AV, Goldstein D, Horvath L, Grimison P, Boyle F, Baron-Hay S, Park SB.

Clin Neurophysiol. 2017 Jul;128(7):1166-1175. doi: 10.1016/j.clinph.2017.04.009. Epub 2017 Apr 25. Review.

PMID:
28511129
29.

Antagonism of B cell enhancer networks by STAT5 drives leukemia and poor patient survival.

Katerndahl CDS, Heltemes-Harris LM, Willette MJL, Henzler CM, Frietze S, Yang R, Schjerven H, Silverstein KAT, Ramsey LB, Hubbard G, Wells AD, Kuiper RP, Scheijen B, van Leeuwen FN, Müschen M, Kornblau SM, Farrar MA.

Nat Immunol. 2017 Jun;18(6):694-704. doi: 10.1038/ni.3716. Epub 2017 Apr 3.

30.

Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1.

Ho G, Widger J, Cardamone M, Farrar MA.

Sleep Med. 2017 Apr;32:92-96. doi: 10.1016/j.sleep.2016.12.005. Epub 2016 Dec 21.

PMID:
28366348
31.

STAT5 and CD4 + T Cell Immunity.

Owen DL, Farrar MA.

F1000Res. 2017 Jan 11;6:32. doi: 10.12688/f1000research.9838.1. eCollection 2017. Review.

32.

Burning pain: axonal dysfunction in erythromelalgia.

Farrar MA, Lee MJ, Howells J, Andrews PI, Lin CS.

Pain. 2017 May;158(5):900-911. doi: 10.1097/j.pain.0000000000000856.

33.

Emerging therapies and challenges in spinal muscular atrophy.

Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC.

Ann Neurol. 2017 Mar;81(3):355-368. doi: 10.1002/ana.24864. Epub 2017 Feb 17. Review.

34.

Motor cortical dysfunction develops in spinocerebellar ataxia type 3.

Farrar MA, Vucic S, Nicholson G, Kiernan MC.

Clin Neurophysiol. 2016 Nov;127(11):3418-3424. doi: 10.1016/j.clinph.2016.09.005. Epub 2016 Sep 15.

PMID:
27689815
35.

Pediatric chemotherapy induced peripheral neuropathy: A systematic review of current knowledge.

Kandula T, Park SB, Cohn RJ, Krishnan AV, Farrar MA.

Cancer Treat Rev. 2016 Nov;50:118-128. doi: 10.1016/j.ctrv.2016.09.005. Epub 2016 Sep 10. Review.

PMID:
27664395
36.

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Farrar MA, Teoh HL, Brammah S, Roscioli T, Cardamone M.

Brain. 2016 Dec;139(Pt 12):e67. Epub 2016 Aug 6. No abstract available.

PMID:
27497490
37.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML.

PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul.

38.

Heterologous Vaccination and Checkpoint Blockade Synergize To Induce Antileukemia Immunity.

Manlove LS, Schenkel JM, Manlove KR, Pauken KE, Williams RT, Vezys V, Farrar MA.

J Immunol. 2016 Jun 1;196(11):4793-804. doi: 10.4049/jimmunol.1600130. Epub 2016 Apr 25.

39.

Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children.

Teoh HL, Mohammad SS, Britton PN, Kandula T, Lorentzos MS, Booy R, Jones CA, Rawlinson W, Ramachandran V, Rodriguez ML, Andrews PI, Dale RC, Farrar MA, Sampaio H.

JAMA Neurol. 2016 Mar;73(3):300-7. doi: 10.1001/jamaneurol.2015.4388.

PMID:
26785318
40.

Sleeping Beauty transposon screen identifies signaling modules that cooperate with STAT5 activation to induce B-cell acute lymphoblastic leukemia.

Heltemes-Harris LM, Larson JD, Starr TK, Hubbard GK, Sarver AL, Largaespada DA, Farrar MA.

Oncogene. 2016 Jun 30;35(26):3454-64. doi: 10.1038/onc.2015.405. Epub 2015 Oct 26.

41.

Adaptive Immunity to Leukemia Is Inhibited by Cross-Reactive Induced Regulatory T Cells.

Manlove LS, Berquam-Vrieze KE, Pauken KE, Williams RT, Jenkins MK, Farrar MA.

J Immunol. 2015 Oct 15;195(8):4028-37. doi: 10.4049/jimmunol.1501291. Epub 2015 Sep 16.

42.

Interleukin-7 is required for CD4(+) T cell activation and autoimmune neuroinflammation.

Lawson BR, Gonzalez-Quintial R, Eleftheriadis T, Farrar MA, Miller SD, Sauer K, McGavern DB, Kono DH, Baccala R, Theofilopoulos AN.

Clin Immunol. 2015 Dec;161(2):260-9. doi: 10.1016/j.clim.2015.08.007. Epub 2015 Aug 25.

43.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Menezes MP, Farrar MA, Webster R, Antony J, O'Brien K, Ouvrier R, Kiernan MC, Burns J, Vucic S.

Clin Neurophysiol. 2016 Jan;127(1):911-918. doi: 10.1016/j.clinph.2015.05.012. Epub 2015 Jun 3.

PMID:
26092362
44.

Immune tolerance. Group 3 innate lymphoid cells mediate intestinal selection of commensal bacteria-specific CD4⁺ T cells.

Hepworth MR, Fung TC, Masur SH, Kelsen JR, McConnell FM, Dubrot J, Withers DR, Hugues S, Farrar MA, Reith W, Eberl G, Baldassano RN, Laufer TM, Elson CO, Sonnenberg GF.

Science. 2015 May 29;348(6238):1031-5. doi: 10.1126/science.aaa4812. Epub 2015 Apr 23.

45.

The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Farrar MA, Kiernan MC.

Neurotherapeutics. 2015 Apr;12(2):290-302. doi: 10.1007/s13311-014-0314-x. Review.

46.

Pax5 loss imposes a reversible differentiation block in B-progenitor acute lymphoblastic leukemia.

Liu GJ, Cimmino L, Jude JG, Hu Y, Witkowski MT, McKenzie MD, Kartal-Kaess M, Best SA, Tuohey L, Liao Y, Shi W, Mullighan CG, Farrar MA, Nutt SL, Smyth GK, Zuber J, Dickins RA.

Genes Dev. 2014 Jun 15;28(12):1337-50. doi: 10.1101/gad.240416.114.

47.

Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies.

Farrar MA, Park SB, Krishnan AV, Kiernan MC, Lin CS.

Muscle Nerve. 2014 Jun;49(6):858-65. doi: 10.1002/mus.24085.

PMID:
24752454
48.

Costimulation via the tumor-necrosis factor receptor superfamily couples TCR signal strength to the thymic differentiation of regulatory T cells.

Mahmud SA, Manlove LS, Schmitz HM, Xing Y, Wang Y, Owen DL, Schenkel JM, Boomer JS, Green JM, Yagita H, Chi H, Hogquist KA, Farrar MA.

Nat Immunol. 2014 May;15(5):473-81. doi: 10.1038/ni.2849. Epub 2014 Mar 16.

49.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.

Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.

50.

Interleukin-2 and STAT5 in regulatory T cell development and function.

Mahmud SA, Manlove LS, Farrar MA.

JAKSTAT. 2013 Jan 1;2(1):e23154. doi: 10.4161/jkst.23154. Review.

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