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Items: 5

1.

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
2.

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
3.

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
4.

Spine magnetic resonance imaging with dynamic flexion sequences for evaluation of mini-polymyoclonus.

Grativvol RS, Cavalcante WCP, Caldas VM, Pimentel GA, Heise CO, Gutierrez LG, Lucato LT, Nitrini R.

Arq Neuropsiquiatr. 2017 Oct;75(10):760. doi: 10.1590/0004-282X20170131. No abstract available.

5.

Delayed Onset of Chorea After Extrapontine Myelinolysis.

Cury RG, Caldas VM, Dornelas GO Jr, Haddad MS.

Mov Disord Clin Pract. 2014 Sep 9;1(4):366-367. doi: 10.1002/mdc3.12051. eCollection 2014 Dec. No abstract available.

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