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Items: 1 to 50 of 112

1.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R.

Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2.

2.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.

Alvarez K, Suarez B, Palomino MA, Hervias C, Calcagno G, Martínez-Jalilie M, Lozano-Arango A, Lillo S, Haro M, Cortés F, Pantoja S, Chahin A, Orellana P, Bevilacqua JA, Bertini E, Castiglioni C.

Arq Neuropsiquiatr. 2019 Jul 29;77(7):470-477. doi: 10.1590/0004-282X20190073.

3.

Radiation Tolerance of Nanopore Sequencing Technology for Life Detection on Mars and Europa.

Sutton MA, Burton AS, Zaikova E, Sutton RE, Brinckerhoff WB, Bevilacqua JG, Weng MM, Mumma MJ, Johnson SS.

Sci Rep. 2019 Mar 29;9(1):5370. doi: 10.1038/s41598-019-41488-4.

4.

Effectiveness of different accelerated partial breast irradiation techniques for the treatment of breast cancer patients: Systematic review using indirect comparisons of randomized clinical trials.

Marta GN, Barrett J, Porfirio GJM, Martimbianco ALC, Bevilacqua JLB, Poortmans P, Riera R.

Rep Pract Oncol Radiother. 2019 Mar-Apr;24(2):165-174. doi: 10.1016/j.rpor.2019.01.009. Epub 2019 Feb 15. Review.

PMID:
30814916
5.

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB.

Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5.

6.

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA.

Muscle Nerve. 2019 Apr;59(4):436-444. doi: 10.1002/mus.26403. Epub 2019 Jan 10.

PMID:
30578674
7.

Mastectomy May Be an Inferior Oncologic Approach Compared With Breast Preservation.

Bevilacqua JLB, Hanna SA, Giannotti DG, Cerri GG.

Int J Radiat Oncol Biol Phys. 2019 Jan 1;103(1):281-282. doi: 10.1016/j.ijrobp.2018.09.018. Epub 2018 Dec 12. No abstract available.

PMID:
30563658
8.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
9.

The effect of methadone on postoperative quality of recovery in patients undergoing laparoscopic cholecystectomy: A prospective, randomized, double blinded, controlled clinical trial.

Moro ET, Lambert MF, Pereira AL, Artioli T, Graicer G, Bevilacqua J, Bloomstone J.

J Clin Anesth. 2019 Mar;53:64-69. doi: 10.1016/j.jclinane.2018.09.031. Epub 2018 Oct 13.

PMID:
30326380
10.

Spinal cord infarction with ipsilateral segmental neuropathic pain and flaccid paralysis. A functional role for human afferent ventral root small sensory fibres.

Campero M, Hughes R, Orellana P, Bevilacqua JA, Guiloff RJ.

J Neurol Sci. 2018 Dec 15;395:84-87. doi: 10.1016/j.jns.2018.09.037. Epub 2018 Oct 1.

PMID:
30300819
11.

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN, Bevilacqua J, Shankar K, Reddi HV.

Epilepsy Res. 2018 Aug;144:53-61. doi: 10.1016/j.eplepsyres.2018.05.004. Epub 2018 May 16.

PMID:
29778030
12.

Suspicious amorphous microcalcifications detected on full-field digital mammography: correlation with histopathology.

Ferreira VCCS, Etchebehere ECSC, Bevilacqua JLB, de Barros N.

Radiol Bras. 2018 Mar-Apr;51(2):87-94. doi: 10.1590/0100-3984.2017.0025.

13.

Environmental impact of the largest petroleum terminal in SE Brazil: A multiproxy analysis based on sediment geochemistry and living benthic foraminifera.

Duleba W, Teodoro AC, Debenay JP, Alves Martins MV, Gubitoso S, Pregnolato LA, Lerena LM, Prada SM, Bevilacqua JE.

PLoS One. 2018 Feb 12;13(2):e0191446. doi: 10.1371/journal.pone.0191446. eCollection 2018.

14.

Measuring plasma levels of three microRNAs can improve the accuracy for identification of malignant breast lesions in women with BI-RADS 4 mammography.

Pezuk JA, Miller TLA, Bevilacqua JLB, de Barros ACSD, de Andrade FEM, E Macedo LFA, Aguilar V, Claro ANM, Camargo AA, Galante PAF, Reis LFL.

Oncotarget. 2017 Sep 11;8(48):83940-83948. doi: 10.18632/oncotarget.20806. eCollection 2017 Oct 13.

15.

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

Bevilacqua JA, Lara M, Díaz J, Campero M, Vázquez J, Maselli RA.

Eur J Transl Myol. 2017 Sep 20;27(3):6832. doi: 10.4081/ejtm.2017.6832. eCollection 2017 Jun 27.

16.

Deep brain stimulation for severe treatment-resistant obsessive-compulsive disorder: An open-label case series.

Farrand S, Evans AH, Mangelsdorf S, Loi SM, Mocellin R, Borham A, Bevilacqua J, Blair-West S, Walterfang MA, Bittar RG, Velakoulis D.

Aust N Z J Psychiatry. 2018 Jul;52(7):699-708. doi: 10.1177/0004867417731819. Epub 2017 Sep 30.

PMID:
28965430
17.

Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.

Bevilacqua J, Hesse A, Cormier B, Davey J, Patel D, Shankar K, Reddi HV.

J Genet. 2017 Sep;96(4):681-685.

18.

Radiotherapy for a breast cancer patient with Schnitzler syndrome: Report of acute toxicity and early follow-up.

Hanna SA, Calich ALG, Katz A, Calich I, Duarte GG, Bevilacqua JLB.

Rep Pract Oncol Radiother. 2017 Nov-Dec;22(6):463-469. doi: 10.1016/j.rpor.2017.08.006. Epub 2017 Sep 8.

19.

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

González-Jamett AM, Baez-Matus X, Olivares MJ, Hinostroza F, Guerra-Fernández MJ, Vasquez-Navarrete J, Bui MT, Guicheney P, Romero NB, Bevilacqua JA, Bitoun M, Caviedes P, Cárdenas AM.

Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w.

20.

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Wang H, Castiglioni C, Kaçar Bayram A, Fattori F, Pekuz S, Araneda D, Per H, Erazo R, Gümüş H, Zorludemir S, Becker K, Ortega X, Bevilacqua JA, Bertini E, Cirak S.

Neuromuscul Disord. 2017 Sep;27(9):836-842. doi: 10.1016/j.nmd.2017.05.014. Epub 2017 May 24.

PMID:
28624463
21.

The construction of arteriovenous fistula for hemodialysis in patients with chronic obstructive arterial disease in the upper limb.

Linardi F, Costa JA, Angelieri FR, Marabezzi MG, Bevilacqua JL.

J Vasc Access. 2017 Mar 21;18(2):167-169. doi: 10.5301/jva.5000624. Epub 2016 Dec 2.

PMID:
27911465
22.

Nipple- and areola-sparing mastectomy for the treatment of breast cancer.

Mota BS, Riera R, Ricci MD, Barrett J, de Castria TB, Atallah ÁN, Bevilacqua JL.

Cochrane Database Syst Rev. 2016 Nov 29;11:CD008932. Review.

23.

Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.

Echeverría C, Diaz A, Suarez B, Bevilacqua JA, Bonnemann C, Bertini E, Castiglioni C.

Acta Derm Venereol. 2017 Feb 8;97(2):297-298. doi: 10.2340/00015555-2523. No abstract available.

24.

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.

Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.

Exp Neurol. 2016 Sep;283(Pt A):246-54. doi: 10.1016/j.expneurol.2016.06.026. Epub 2016 Jun 25. Review.

PMID:
27349407
25.

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Sanmann JN, Casas KA, Bevilacqua J, Bishay DL, Clark T, Van Dyke AZ, Leiferman PC, Reddi HV, Starr LJ.

Am J Med Genet A. 2016 Sep;170(9):2416-20. doi: 10.1002/ajmg.a.37797. Epub 2016 Jun 23. Review.

PMID:
27338032
26.

The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.

Cea LA, Bevilacqua JA, Arriagada C, Cárdenas AM, Bigot A, Mouly V, Sáez JC, Caviedes P.

BMC Cell Biol. 2016 May 24;17 Suppl 1:15. doi: 10.1186/s12860-016-0096-6.

27.

Broadening the imaging phenotype of dysferlinopathy at different disease stages.

Díaz J, Woudt L, Suazo L, Garrido C, Caviedes P, CÁrdenas AM, Castiglioni C, Bevilacqua JA.

Muscle Nerve. 2016 Aug;54(2):203-10. doi: 10.1002/mus.25045. Epub 2016 May 26.

PMID:
26800485
28.

Popliteal sentinel lymph node involvement in melanoma patients.

Bertolli E, Bevilacqua JL, Molina AS, de Macedo MP, Pinto CA, Duprat Neto JP.

J Surg Oncol. 2015 Aug;112(2):179-82. doi: 10.1002/jso.23978. Epub 2015 Jul 31.

PMID:
26227662
29.

Personalization of loco-regional care for primary breast cancer patients (part 2).

Toi M, Winer EP, Benson JR, Inamoto T, Forbes JF, von Minckwitz G, Robertson JF, Grobmyer SR, Jatoi I, Sasano H, Kunkler I, Ho AY, Yamauchi C, Chow LW, Huang CS, Han W, Noguchi S, Pegram MD, Yamauchi H, Lee ES, Larionov AA, Bevilacqua JL, Yoshimura M, Sugie T, Yamauchi A, Krop IE, Noh DY, Klimberg VS; 2014 Kyoto Breast Cancer Consensus Conference.

Future Oncol. 2015;11(9):1301-5. doi: 10.2217/fon.15.66.

30.

Personalization of loco-regional care for primary breast cancer patients (part 1).

Toi M, Winer EP, Benson JR, Inamoto T, Forbes JF, von Minckwitz G, Robertson JF, Grobmyer SR, Jatoi I, Sasano H, Kunkler I, Ho AY, Yamauchi C, Chow LW, Huang CS, Han W, Noguchi S, Pegram MD, Yamauchi H, Lee ES, Larionov AA, Bevilacqua JL, Yoshimura M, Sugie T, Yamauchi A, Krop IE, Noh DY, Klimberg VS; 2014 Kyoto Breast Cancer Consensus Conference.

Future Oncol. 2015;11(9):1297-300. doi: 10.2217/fon.15.65.

31.

Toward an objective measure of functional disability in dysferlinopathy.

Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA.

Muscle Nerve. 2016 Jan;53(1):49-57. doi: 10.1002/mus.24685. Epub 2015 May 23.

PMID:
25900324
32.

Intraoperative full-dose of partial breast irradiation with electrons delivered by standard linear accelerators for early breast cancer.

Barros AC, Hanna SA, Carvalho HA, Martella E, Andrade FE, Piato JR, Bevilacqua JL.

Int J Breast Cancer. 2014;2014:568136. doi: 10.1155/2014/568136. Epub 2014 Dec 17.

33.

Magnetic resonance imaging-guided occult breast lesion localization and simultaneous sentinel lymph node mapping.

de Lima Docema MF, Costa PA, de Andrade FE, Bevilacqua JL, Elias S, Cerri GG, Barros AC, Nazario AC.

World J Surg Oncol. 2014 Oct 23;12:320. doi: 10.1186/1477-7819-12-320.

34.

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA.

Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub 2014 Oct 30.

PMID:
25088345
35.

Intraoperative radiation therapy in early breast cancer using a linear accelerator outside of the operative suite: an "image-guided" approach.

Hanna SA, de Barros ACSD, de Andrade FEM, Bevilacqua JLB, Piato JRM, Pelosi EL, Martella E, da Silva JLF, Carvalho HA.

Int J Radiat Oncol Biol Phys. 2014 Aug 1;89(5):1015-1023. doi: 10.1016/j.ijrobp.2014.04.038. Epub 2014 Jul 8.

PMID:
25035204
36.

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Castiglioni C, Bertini E, Orellana P, Villarroel C, Las Heras F, Hinzpeter D, Paolinelli P, Bevilacqua JA, Alvarez K.

Am J Med Genet A. 2014 Sep;164A(9):2365-9. doi: 10.1002/ajmg.a.36651. Epub 2014 Jun 26.

PMID:
24975390
37.

[Monitoring of hematimetric parameters].

Bevilacqua JL, Canziani ME.

J Bras Nefrol. 2014 Mar;36(1 Suppl 1):13-4. Portuguese. No abstract available.

38.

[Preface. Anemia].

Lugon JR, Bevilacqua JL, Canziani ME.

J Bras Nefrol. 2014 Mar;36(1 Suppl 1):6. Portuguese. No abstract available.

39.

Radicality effect of adding an interpectoral to a subpectoral approach for dissection of level III axillary lymph nodes in breast cancer.

Barros AC, Andrade FE, Bevilacqua JL, Barros MA, Piato JR, Santos DR, Filassi JR, Nimir CC.

Tumori. 2013 Jul-Aug;99(4):500-4.

PMID:
24471202
40.

Preclinical and clinical development of a YFV 17 D-based chimeric vaccine against West Nile virus.

Dayan GH, Pugachev K, Bevilacqua J, Lang J, Monath TP.

Viruses. 2013 Dec 9;5(12):3048-70. doi: 10.3390/v5123048. Review.

41.

Dynamin-2 in nervous system disorders.

González-Jamett AM, Haro-Acuña V, Momboisse F, Caviedes P, Bevilacqua JA, Cárdenas AM.

J Neurochem. 2014 Jan;128(2):210-23. doi: 10.1111/jnc.12455. Epub 2013 Oct 23. Review.

42.

Dynamin-2 function and dysfunction along the secretory pathway.

González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cárdenas AM.

Front Endocrinol (Lausanne). 2013 Sep 18;4:126. doi: 10.3389/fendo.2013.00126. Review.

43.

Supportive care after curative treatment for breast cancer (survivorship care): resource allocations in low- and middle-income countries. A Breast Health Global Initiative 2013 consensus statement.

Ganz PA, Yip CH, Gralow JR, Distelhorst SR, Albain KS, Andersen BL, Bevilacqua JL, de Azambuja E, El Saghir NS, Kaur R, McTiernan A, Partridge AH, Rowland JH, Singh-Carlson S, Vargo MM, Thompson B, Anderson BO.

Breast. 2013 Oct;22(5):606-15. doi: 10.1016/j.breast.2013.07.049. Epub 2013 Sep 3. Review.

PMID:
24007941
44.

Supportive care during treatment for breast cancer: resource allocations in low- and middle-income countries. A Breast Health Global Initiative 2013 consensus statement.

Cardoso F, Bese N, Distelhorst SR, Bevilacqua JL, Ginsburg O, Grunberg SM, Gralla RJ, Steyn A, Pagani O, Partridge AH, Knaul FM, Aapro MS, Andersen BL, Thompson B, Gralow JR, Anderson BO.

Breast. 2013 Oct;22(5):593-605. doi: 10.1016/j.breast.2013.07.050. Epub 2013 Aug 31. Review.

PMID:
24001709
45.

Phase II, dose ranging study of the safety and immunogenicity of single dose West Nile vaccine in healthy adults ≥ 50 years of age.

Dayan GH, Bevilacqua J, Coleman D, Buldo A, Risi G.

Vaccine. 2012 Oct 19;30(47):6656-64. doi: 10.1016/j.vaccine.2012.08.063. Epub 2012 Sep 7.

PMID:
22959989
46.

Nomograms for predicting the risk of arm lymphedema after axillary dissection in breast cancer.

Bevilacqua JL, Kattan MW, Changhong Y, Koifman S, Mattos IE, Koifman RJ, Bergmann A.

Ann Surg Oncol. 2012 Aug;19(8):2580-9. doi: 10.1245/s10434-012-2290-x. Epub 2012 Mar 7.

PMID:
22395997
47.

Comparison of trisodium citrate and heparin as catheter-locking solution in hemodialysis patients.

Bevilacqua JL, Gomes JG, Santos VF, Canziani ME.

J Bras Nefrol. 2011 Mar;33(1):86-92. English, Portuguese.

48.

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.

Romero NB, Bevilacqua JA, Oldfors A, Fardeau M.

Neuromuscul Disord. 2011 Feb;21(2):148; author reply 148-9. doi: 10.1016/j.nmd.2010.11.009. No abstract available.

PMID:
21247764
49.

Phase II, randomized, double-blind, placebo-controlled, multicenter study to investigate the immunogenicity and safety of a West Nile virus vaccine in healthy adults.

Biedenbender R, Bevilacqua J, Gregg AM, Watson M, Dayan G.

J Infect Dis. 2011 Jan 1;203(1):75-84. doi: 10.1093/infdis/jiq003.

50.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149.x.

PMID:
21062345

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