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Items: 13

1.

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
2.

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
3.

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.

4.

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
5.

Evaluation of bone marrow stem cell response to PLA scaffolds manufactured by 3D printing and coated with polydopamine and type I collagen.

Teixeira BN, Aprile P, Mendonça RH, Kelly DJ, Thiré RMDSM.

J Biomed Mater Res B Appl Biomater. 2019 Jan;107(1):37-49. doi: 10.1002/jbm.b.34093. Epub 2018 Feb 26.

PMID:
29480562
6.

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
7.

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
8.

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.

9.

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.

10.

Radiotherapy changes salivary properties and impacts quality of life of children with Hodgkin disease.

Marangoni-Lopes L, Rodrigues LP, Mendonça RH, Nobre-Dos Santos M.

Arch Oral Biol. 2016 Dec;72:99-105. doi: 10.1016/j.archoralbio.2016.08.023. Epub 2016 Aug 21.

PMID:
27566884
11.

Evaluation of metronidazole-loaded poly(3-hydroxybutyrate) membranes to potential application in periodontitis treatment.

da Silva MA, Oliveira RN, Mendonça RH, Lourenço TG, Colombo AP, Tanaka MN, Tude EM, da Costa MF, Thiré RM.

J Biomed Mater Res B Appl Biomater. 2016 Jan;104(1):106-15. doi: 10.1002/jbm.b.33357. Epub 2015 Feb 6.

PMID:
25655488
12.

Discordance for retinitis pigmentosa in two monozygotic twin pairs.

Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O Jr, Takahashi WY, Lissens W, de Baere E, Leroy BP.

Retina. 2011 Jun;31(6):1164-9. doi: 10.1097/IAE.0b013e3181fbcf2b.

PMID:
21283054
13.

Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa.

Vingolo EM, Livani ML, Domanico D, Mendonça RH, Rispoli E.

Doc Ophthalmol. 2006 Jul;113(1):5-10. Epub 2006 Sep 6.

PMID:
16955285

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