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Items: 1 to 50 of 95

1.

Clinical and molecular findings in a cohort of ANO5-related myopathy.

Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreira CFDR, Camelo CG, Mendonça RDH, Estephan EDP, Reed UC, Machado-Costa MC, Dourado-Junior MET, Pereira VC, Cruzeiro MM, Helito PVP, Aivazoglou LU, Camargo LVD, Gomes HH, Camargo AJSD, Pinto WBVDR, Badia BML, Libardi LH, Yanagiura MT, Oliveira ASB, Nucci A, Saute JAM, França-Junior MC, Zanoteli E.

Ann Clin Transl Neurol. 2019 Jul;6(7):1225-1238. doi: 10.1002/acn3.50801. Epub 2019 Jun 11.

2.

Severe brain involvement in 5q spinal muscular atrophy type 0.

Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E.

Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24.

PMID:
31301241
3.

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA.

Clin Genet. 2019 Jul 3. doi: 10.1111/cge.13597. [Epub ahead of print]

PMID:
31268554
4.

Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis.

Silva AMS, Almeida HC, Vianna MAA, Comello F, Zanoteli E.

Clin Infect Dis. 2019 Jul 2;69(2):373-375. doi: 10.1093/cid/ciy755. No abstract available.

PMID:
31263900
5.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

PMID:
31218456
6.

A new mutation in PYGM causing McArdle disease in a Brazilian patient.

Gomes CP, da Silva AMS, Zanoteli E, Pesquero JB.

Acta Neurol Belg. 2019 Jun 7. doi: 10.1007/s13760-019-01159-7. [Epub ahead of print] No abstract available.

PMID:
31175620
7.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D.

Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107.

PMID:
31081514
8.

Skeletal Muscle Response to Deflazacort, Dexamethasone and Methylprednisolone.

Fappi A, Neves JC, Sanches LN, Massaroto E Silva PV, Sikusawa GY, Brandão TPC, Chadi G, Zanoteli E.

Cells. 2019 May 1;8(5). pii: E406. doi: 10.3390/cells8050406.

9.

Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy.

Silva AMSD, Cavalcante WCP, Camelo CG, Mendonça RH, Fortini I, Carvalho MS, Zanoteli E.

Arq Neuropsiquiatr. 2019 Feb;77(2):139. doi: 10.1590/0004-282X20190008. No abstract available.

10.

Diagnostic Imaging of Inflammatory Myopathies: New Concepts and a Radiological Approach.

Guimarães JB, Nico MA, Omond AG, Aivazoglou LU, Jorge RB, Zanoteli E, Fernandes ARC.

Curr Rheumatol Rep. 2019 Feb 14;21(3):8. doi: 10.1007/s11926-019-0807-z. Review.

PMID:
30762122
11.

Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms.

Fappi A, Neves JC, Kawasaki KA, Bacelar L, Sanches LN, P da Silva F, Larina-Neto R, Chadi G, Zanoteli E.

Physiol Rep. 2019 Jan;7(1):e13966. doi: 10.14814/phy2.13966.

12.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E.

Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283.

13.

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Töpf A, Lochmüller H, Zanoteli E.

Neuromuscul Disord. 2018 Nov;28(11):961-964. doi: 10.1016/j.nmd.2018.08.007. Epub 2018 Sep 5.

PMID:
30266223
14.

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
15.

Molecular and immunohistochemical analysis of the urethra of female rats after induced trauma and intravenous therapy with muscle derived stem cells.

Bilhar APM, Bortolini MAT, Sé AB, Feitosa SM, Salerno GRF, Zanoteli E, Simões MJ, Castro RA.

Neurourol Urodyn. 2018 Sep;37(7):2151-2159. doi: 10.1002/nau.23567. Epub 2018 Aug 28.

PMID:
30152522
16.

Clinical Variability in 2 Siblings With Late-Onset Pompe Disease.

Correia CDC, Fontana PN, de Góes GHB, Zanoteli E.

J Clin Neuromuscul Dis. 2018 Sep;20(1):47-48. doi: 10.1097/CND.0000000000000216. No abstract available.

PMID:
30124561
17.

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure.

Silva AMS, Mendonça RH, Soares DC, Callegaro D, Caldas VM, Perissinotti IN, Carvalho MS, Zanoteli E.

Neurology. 2018 Jul 24;91(4):187-190. doi: 10.1212/WNL.0000000000005867. No abstract available.

PMID:
30037914
18.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY.

Eur Radiol. 2018 Dec;28(12):5293-5303. doi: 10.1007/s00330-018-5472-5. Epub 2018 May 25.

PMID:
29802573
19.

Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report.

Carvalho AAS, da Silva VG, Zanoteli E, Feder D.

Ther Clin Risk Manag. 2018 May 14;14:903-907. doi: 10.2147/TCRM.S162931. eCollection 2018.

20.

Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis.

de Camargo LV, de Carvalho MS, Shinjo SK, de Oliveira ASB, Zanoteli E.

Biomed Res Int. 2018 Jan 29;2018:5069042. doi: 10.1155/2018/5069042. eCollection 2018.

21.

Therapeutic advances in 5q-linked spinal muscular atrophy.

Reed UC, Zanoteli E.

Arq Neuropsiquiatr. 2018 Apr;76(4):265-272. doi: 10.1590/0004-282x20180011. Review.

22.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
23.

Molecular and histomorphological evaluation of female rats' urethral tissues after an innovative trauma model of prolonged vaginal distention: immediate, short-term and long-term effects.

Bortolini MAT, Feitosa SM, Bilhar APM, Salerno GGR, Zanoteli E, Simões MJ, Castro RA.

Int Urogynecol J. 2019 Mar;30(3):465-476. doi: 10.1007/s00192-018-3634-2. Epub 2018 Mar 21.

PMID:
29564513
24.

Histological changes underlying bupivacaine's effect on extra ocular muscle.

Hopker LM, Neves JC, Nascimento DJ, Campos ED, Mendonça TS, Zanoteli E, Allemann N.

Exp Eye Res. 2018 Jun;171:62-67. doi: 10.1016/j.exer.2018.03.004. Epub 2018 Mar 9.

PMID:
29530812
25.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E.

J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30.

PMID:
29383513
26.

Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters.

Guimaraes JB, Zanoteli E, Link TM, de Camargo LV, Facchetti L, Nardo L, Fernandes ADRC.

AJR Am J Roentgenol. 2017 Dec;209(6):1340-1347. doi: 10.2214/AJR.17.17849. Epub 2017 Sep 27.

PMID:
28952813
27.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E.

Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30.

PMID:
28818389
28.

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.

Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França MC Junior, Martinez ARM, Navarro MMM, Nucci A, Resende MBD, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CFDR, Reed UC, Zanoteli E.

Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282x20170112.

29.

Translation and validation of the Life Satisfaction Index for Adolescents scale with neuromuscular disorders: LSI-A Brazil.

Simon VA, Zanoteli E, Simon MAVP, Resende MBD, Reed UC.

Arq Neuropsiquiatr. 2017 Aug;75(8):553-562. doi: 10.1590/0004-282X20170103.

30.

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.

Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E.

Pediatr Neurol. 2017 Oct;75:11-16. doi: 10.1016/j.pediatrneurol.2017.04.002. Epub 2017 Apr 7. Review.

PMID:
28780987
31.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
32.

Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy.

Silva AMS, Mendonça RH, Moreno CAM, Estephan EP, Helito PVP, Carvalho MS, Zanoteli E.

Neuromuscul Disord. 2017 Aug;27(8):756-759. doi: 10.1016/j.nmd.2017.05.008. Epub 2017 May 12.

PMID:
28606402
33.

Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis.

Grativvol RS, Silva AM, Guedes BF, Estephan EP, Mendonça RH, Zambon AA, Heise CO, Zanoteli E.

Arq Neuropsiquiatr. 2017 Mar;75(3):197-198. doi: 10.1590/0004-282X20160192. No abstract available.

34.

Matching pairs difficulty in children with spinal muscular atrophy type I.

Polido GJ, Barbosa AF, Morimoto CH, Caromano FA, Favero FM, Zanoteli E, Reed UC, Voos MC.

Neuromuscul Disord. 2017 May;27(5):419-427. doi: 10.1016/j.nmd.2017.01.017. Epub 2017 Feb 15.

PMID:
28302390
35.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

36.

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

Estephan EP, Moreno CAM, Silva AMS, Mendonça RH, Abath Neto O, Nishimura PY, Galindo LT, Zanoteli E.

Arq Neuropsiquiatr. 2017 Jan;75(1):72-73. doi: 10.1590/0004-282X20160171. No abstract available.

37.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

38.

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Abath Neto O, Heise CO, Moreno CA, Estephan EP, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira AS, Reed UC, Biancalana V, Laporte J, Zanoteli E.

Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17. No abstract available.

PMID:
27748205
39.

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL.

J Neurol Sci. 2016 Sep 15;368:352-8. doi: 10.1016/j.jns.2016.07.048. Epub 2016 Jul 21.

PMID:
27538664
40.

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

Abath Neto O, Silva MR, Martins Cde A, Oliveira Ade S, Reed UC, Biancalana V, Pesquero JB, Laporte J, Zanoteli E.

Pediatr Neurol. 2016 May;58:107-12. doi: 10.1016/j.pediatrneurol.2016.01.023. Epub 2016 Feb 6.

PMID:
26995067
41.

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Albuquerque MA, Abath Neto O, Silva FM, Zanoteli E, Reed UC.

Arq Neuropsiquiatr. 2015 Dec;73(12):993-7. doi: 10.1590/0004-282X20150168.

42.

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.

Abath Neto O, Martins Cde A, Carvalho M, Chadi G, Seitz KW, Oliveira AS, Reed UC, Laporte J, Zanoteli E.

Genet Mol Biol. 2015 May;38(2):147-51. doi: 10.1590/S1415-4757382220140238. Epub 2015 May 1.

43.

Neuraminidase-1 mediates skeletal muscle regeneration.

Neves Jde C, Rizzato VR, Fappi A, Garcia MM, Chadi G, van de Vlekkert D, d'Azzo A, Zanoteli E.

Biochim Biophys Acta. 2015 Sep;1852(9):1755-64. doi: 10.1016/j.bbadis.2015.05.006. Epub 2015 May 19.

44.

Rhabdomyolysis: a genetic perspective.

Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R.

Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Review.

45.

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#).

Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14.

46.

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy.

Marques TB, Neves Jde C, Portes LA, Salge JM, Zanoteli E, Reed UC.

J Bras Pneumol. 2014 Oct;40(5):528-34. English, Portuguese.

47.

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O, Tassy O, Biancalana V, Zanoteli E, Pourquié O, Laporte J.

PLoS One. 2014 Oct 29;9(10):e110888. doi: 10.1371/journal.pone.0110888. eCollection 2014. Erratum in: PLoS One. 2015;10(2):e0117884.

48.

Clinical aspects of patients with sarcoglycanopathies under steroids therapy.

Albuquerque MA, Abath-Neto O, Maximino JR, Chadi G, Zanoteli E, Reed UC.

Arq Neuropsiquiatr. 2014 Oct;72(10):768-72.

49.

Whole-body magnetic resonance imaging in the assessment of muscular involvement in juvenile dermatomyositis/polymyositis patients.

Castro TC, Lederman H, Terreri MT, Caldana WI, Zanoteli E, Hilário MO.

Scand J Rheumatol. 2014;43(4):329-33. doi: 10.3109/03009742.2013.868509. Epub 2014 Feb 7.

PMID:
25087579
50.

The effects of omega-3 fatty acid supplementation on dexamethasone-induced muscle atrophy.

Fappi A, Godoy TS, Maximino JR, Rizzato VR, Neves Jde C, Chadi G, Zanoteli E.

Biomed Res Int. 2014;2014:961438. doi: 10.1155/2014/961438. Epub 2014 May 25.

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