Lorenzoni PJ - Search Results

1

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Azuma Y, et al. Among authors: lorenzoni pj. Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508085 Free PMC article.

2

Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.

Lorenzoni PJ, Bayer DL, Ducci RD, Fustes OJH, do Vale Pascoal Rodrigues PR, Werneck LC, Kay CSK, Scola RH. Lorenzoni PJ, et al. Neurol Sci. 2023 Jul;44(7):2551-2554. doi: 10.1007/s10072-023-06763-3. Epub 2023 Mar 24. Neurol Sci. 2023. PMID: 36964315

3

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H. Mihaylova V, et al. Among authors: lorenzoni pj. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):973-7. doi: 10.1136/jnnp.2009.177816. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562457 Free article.

4

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.

Lorenzoni PJ, Scola RH, Kay CS, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. Muscle Nerve. 2013 Jul;48(1):151-2. doi: 10.1002/mus.23724. Epub 2013 May 9. Muscle Nerve. 2013. PMID: 23657916 No abstract available.

5

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19. J Neurol Sci. 2013. PMID: 23790237

6

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H. Lorenzoni PJ, et al. Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Neuromolecular Med. 2018. PMID: 29696584 Review.

7

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Owen D, et al. Among authors: lorenzoni pj. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704306

8

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.

Lorenzoni PJ, Kay CSK, Arndt RC, Hrysay NMC, Ducci RD, Fustes OHJ, Töpf A, Lochmüller H, Werneck LC, Scola RH. Lorenzoni PJ, et al. J Clin Neurosci. 2020 May;75:195-198. doi: 10.1016/j.jocn.2020.01.080. Epub 2020 Mar 29. J Clin Neurosci. 2020. PMID: 32238315

9

Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.

Lorenzoni PJ, Ducci RD, Arndt RC, Hrysay NMC, Fustes OJH, Töpf A, Lochmüller H, Werneck LC, Kay CSK, Scola RH. Lorenzoni PJ, et al. Arq Neuropsiquiatr. 2022 Jan;80(1):69-74. doi: 10.1590/0004-282X-ANP-2020-0575. Arq Neuropsiquiatr. 2022. PMID: 34932651 Free PMC article.

10

Congenital myasthenic syndrome: a brief review.

Lorenzoni PJ, Scola RH, Kay CS, Werneck LC. Lorenzoni PJ, et al. Pediatr Neurol. 2012 Mar;46(3):141-8. doi: 10.1016/j.pediatrneurol.2011.12.001. Pediatr Neurol. 2012. PMID: 22353287 Review.

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