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Items: 1 to 50 of 317

1.

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.

2.

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.

3.

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.

4.

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
5.

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
6.

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.

7.

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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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.

14.

What Predicts Hospital Admissions in Community-Dwelling People With Parkinsonism?

Sebastian R, Gray WK, Foley A, Trendall L, Oh D, Hand A, Dodds S, McClenaghan E, Santos VD, Oates LL, Fisher J, Walker RW.

J Geriatr Psychiatry Neurol. 2019 Aug 13:891988719868309. doi: 10.1177/0891988719868309. [Epub ahead of print]

PMID:
31409182
15.

Trapping and Characterization of Nontoxic Aβ42 Aggregation Intermediates.

Foley AR, Finn TS, Kung T, Hatami A, Lee HW, Jia M, Rolandi M, Raskatov JA.

ACS Chem Neurosci. 2019 Aug 21;10(8):3880-3887. doi: 10.1021/acschemneuro.9b00340. Epub 2019 Aug 1.

PMID:
31319029
16.

An ultrafast system for signaling mechanical pain in human skin.

Nagi SS, Marshall AG, Makdani A, Jarocka E, Liljencrantz J, Ridderström M, Shaikh S, O'Neill F, Saade D, Donkervoort S, Foley AR, Minde J, Trulsson M, Cole J, Bönnemann CG, Chesler AT, Bushnell MC, McGlone F, Olausson H.

Sci Adv. 2019 Jul 3;5(7):eaaw1297. doi: 10.1126/sciadv.aaw1297. eCollection 2019 Jul.

17.

Not Just Chest Pain: Presenting Symptoms of Acute Coronary Syndrome by Gender: A Research to Practice Summary.

Foley AL.

J Emerg Nurs. 2019 Jul;45(4):462-464. doi: 10.1016/j.jen.2019.05.004. No abstract available.

PMID:
31280771
18.

A review of the e-cigarette debate.

Foley AM.

J Vasc Nurs. 2019 Jun;37(2):153-155. doi: 10.1016/j.jvn.2019.05.005. Epub 2019 May 23. No abstract available.

PMID:
31155164
19.

MuscleViz: Free Open-Source Software for Muscle Weakness Visualization.

Wittenbach JD, Cocanougher BT, Yun P, Foley AR, Bönnemann CG.

J Neuromuscul Dis. 2019;6(2):263-266. doi: 10.3233/JND-190385.

PMID:
31127729
20.

The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.

Saade DN, Neuhaus SB, Foley AR, Bönnemann CG.

Semin Pediatr Neurol. 2019 Apr;29:44-54. doi: 10.1016/j.spen.2019.01.001. Epub 2019 Jan 16.

PMID:
31060725
21.

Clinical Practice Guideline: Gastric Tube Placement Verification.

ENA Clinical Practice Guideline Committee, Killian M, Reeve NE, Slivinski A, Bradford JY, Horigan A, Barnason S, Foley A, Johnson M, Kaiser J, MacPherson-Dias R, Proehl JA, Stapleton SJ, Valdez AM, Vanhoy MA, Zaleski ME; ENA Board of Directors Liaisons:, Gillespie G, Proehl JA; Methodologist:, Bishop-Royse J; Staff Liaisons:, Wolf L, Delao A; Administrative Staff:, Gates L.

J Emerg Nurs. 2019 May;45(3):306.e1-306.e19. doi: 10.1016/j.jen.2019.03.011. No abstract available.

PMID:
31056115
22.

Effect of Perioperative Lidocaine, Propofol and Steroids on Pulmonary Metastasis in a Murine Model of Breast Cancer Surgery.

Freeman J, Crowley PD, Foley AG, Gallagher HC, Iwasaki M, Ma D, Buggy DJ.

Cancers (Basel). 2019 May 1;11(5). pii: E613. doi: 10.3390/cancers11050613.

23.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.

JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.

24.

Clinical Practice Guideline: Intimate Partner Violence.

ENA Clinical Practice Guideline Committee, Stapleton SJ, Bradford JY, Horigan A, Barnason S, Foley A, Johnson M, Kaiser J, Killian M, MacPherson-Dias R, Proehl JA, Reeve NE, Slivinski A, Valdez AM, Vanhoy MA, Zaleski ME; ENA Board of Directors Liaisons:, Gillespie G, Proehl JA; Methodologist:, Bishop-Royse J; Staff Liaisons:, Wolf L, Delao A; Administrative Staff:, Gates L.

J Emerg Nurs. 2019 Mar;45(2):191.e1-191.e29. doi: 10.1016/j.jen.2019.01.016. No abstract available.

PMID:
30846136
25.

A DFT-Assisted Topological Analysis of Four Polymorphic, S-Shaped Aβ42 Fibril Structures.

Foley AR, Raskatov JA.

Chembiochem. 2019 Jul 1;20(13):1722-1724. doi: 10.1002/cbic.201900036. Epub 2019 May 21.

PMID:
30821034
26.

Breaking down gesture and action in mental rotation: Understanding the components of movement that promote learning.

Wakefield EM, Foley AE, Ping R, Villarreal JN, Goldin-Meadow S, Levine SC.

Dev Psychol. 2019 May;55(5):981-993. doi: 10.1037/dev0000697. Epub 2019 Feb 18.

PMID:
30777770
27.

Nkx2-5 Second Heart Field Target Gene Ccdc117 Regulates DNA Metabolism and Proliferation.

Horton AJ, Brooker J, Streitfeld WS, Flessa ME, Pillai B, Simpson R, Clark CD, Gooz MB, Sutton KK, Foley AC, Lee KH.

Sci Rep. 2019 Feb 11;9(1):1738. doi: 10.1038/s41598-019-39078-5.

28.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J.

Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.

PMID:
30701273
29.

Assessing Karenia brevis red tide as a mortality factor of sea turtles in Florida, USA.

Foley AM, Stacy BA, Schueller P, Flewelling LJ, Schroeder B, Minch K, Fauquier DA, Foote JJ, Manire CA, Atwood KE, Granholm AA, Landsberg JH.

Dis Aquat Organ. 2019 Jan 10;132(2):109-124. doi: 10.3354/dao03308.

30.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.

31.

Video Capsule Endoscopy in the Assessment of Portal Hypertensive Enteropathy.

Al-Azzawi Y, Spaho L, Mahmoud M, Kheder J, Foley A, Cave D.

Int J Hepatol. 2018 Nov 1;2018:5109689. doi: 10.1155/2018/5109689. eCollection 2018.

32.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

33.

Cervical Collar Placement Algorithm for Triage Nurses.

Irwin M, Foley AL.

J Emerg Nurs. 2018 Nov;44(6):668-670. doi: 10.1016/j.jen.2018.08.009. No abstract available.

PMID:
30415740
34.

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB.

Muscle Nerve. 2019 Mar;59(3):357-362. doi: 10.1002/mus.26378. Epub 2018 Nov 28.

PMID:
30412272
35.

A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia.

Spiciarich DR, Oh ST, Foley A, Hughes SB, Mauro MJ, Abdel-Wahab O, Press RD, Viner R, Thompson SL, Chen Q, Azadi P, Bertozzi CR, Maxson JE.

Cancer Res. 2018 Dec 15;78(24):6762-6770. doi: 10.1158/0008-5472.CAN-18-1638. Epub 2018 Oct 22.

PMID:
30348809
36.

PIEZO2 mediates injury-induced tactile pain in mice and humans.

Szczot M, Liljencrantz J, Ghitani N, Barik A, Lam R, Thompson JH, Bharucha-Goebel D, Saade D, Necaise A, Donkervoort S, Foley AR, Gordon T, Case L, Bushnell MC, Bönnemann CG, Chesler AT.

Sci Transl Med. 2018 Oct 10;10(462). pii: eaat9892. doi: 10.1126/scitranslmed.aat9892.

37.

Effect of Perioperative Lidocaine and Cisplatin on Metastasis in a Murine Model of Breast Cancer Surgery.

Freeman J, Crowley PD, Foley AG, Gallagher HC, Iwasaki M, Ma D, Buggy DJ.

Anticancer Res. 2018 Oct;38(10):5599-5606. doi: 10.21873/anticanres.12894.

PMID:
30275177
38.

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.

PMID:
30168660
39.

Lower Endoscopic Diagnostic Yields Observed in Non-hematemesis Gastrointestinal Bleeding Patients.

Jawaid S, Marya N, Gondal B, Maranda L, Marshall C, Charpentier J, Rupawala A, Al-Sayid M, Singh A, Foley A, Volturo G, Cave D.

Dig Dis Sci. 2018 Dec;63(12):3448-3456. doi: 10.1007/s10620-018-5244-8. Epub 2018 Aug 22.

PMID:
30136044
40.

Reproductive effort and success of males in scramble-competition polygyny: Evidence for trade-offs between foraging and mate search.

Foley AM, Hewitt DG, DeYoung RW, Schnupp MJ, Hellickson MW, Lockwood MA.

J Anim Ecol. 2018 Nov;87(6):1600-1614. doi: 10.1111/1365-2656.12893. Epub 2018 Sep 12.

PMID:
30079548
41.

Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.

Forman EB, Foley AR, King MD.

Pediatr Neurol. 2018 Sep;86:77-78. doi: 10.1016/j.pediatrneurol.2018.05.005. Epub 2018 Jun 1. No abstract available.

PMID:
30072240
42.

Neurotoxicity of Inhalation Anesthetics in the Neonatal Rat Brain: Effects on Behavior and Neurodegeneration in the Piriform Cortex.

O'Farrell RA, Foley AG, Buggy DJ, Gallagher HC.

Anesthesiol Res Pract. 2018 Jun 19;2018:6376090. doi: 10.1155/2018/6376090. eCollection 2018.

43.

Reducing LWBS Rates With a Focused Friendly Face Out Front.

Foley A, Cook H, Arnone C, King R Jr.

J Emerg Nurs. 2018 Jul;44(4):430-431. doi: 10.1016/j.jen.2018.04.011. Review. No abstract available.

PMID:
29976322
44.

Effect of perioperative lidocaine on metastasis after sevoflurane or ketamine-xylazine anaesthesia for breast tumour resection in a murine model.

Johnson MZ, Crowley PD, Foley AG, Xue C, Connolly C, Gallagher HC, Buggy DJ.

Br J Anaesth. 2018 Jul;121(1):76-85. doi: 10.1016/j.bja.2017.12.043. Epub 2018 Feb 22.

45.

A randomized controlled trial comparing efficacy of early video capsule endoscopy with standard of care in the approach to nonhematemesis GI bleeding (with videos).

Marya NB, Jawaid S, Foley A, Han S, Patel K, Maranda L, Kaufman D, Bhattacharya K, Marshall C, Tennyson J, Cave DR.

Gastrointest Endosc. 2019 Jan;89(1):33-43.e4. doi: 10.1016/j.gie.2018.06.016. Epub 2018 Jun 20.

PMID:
29935143
46.

Extracellular matrix-driven congenital muscular dystrophies.

Mohassel P, Foley AR, Bönnemann CG.

Matrix Biol. 2018 Oct;71-72:188-204. doi: 10.1016/j.matbio.2018.06.005. Epub 2018 Jun 19. Review.

PMID:
29933045
47.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

48.

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.

49.

Easy-to-Read Informed Consent Form for Hematopoietic Cell Transplantation Clinical Trials: Results from the Blood and Marrow Transplant Clinical Trials Network 1205 Study.

Spellecy R, Tarima S, Denzen E, Moore H, Abhyankar S, Dawson P, Foley A, Gersten I, Horwitz M, Idossa L, Joffe S, Kamani N, King R, Lazaryan A, Morris L, Horowitz MM, Majhail NS.

Biol Blood Marrow Transplant. 2018 Oct;24(10):2145-2151. doi: 10.1016/j.bbmt.2018.04.014. Epub 2018 Apr 18.

50.

Advancing Basic Bleeding Control.

Foley A, Hannity J.

J Emerg Nurs. 2018 Mar;44(2):210-211. doi: 10.1016/j.jen.2018.01.004. No abstract available.

PMID:
29548379

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