Lourenço CM - Search Results

1

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Figueiredo FB, Silva WA Jr, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W Jr. Figueiredo FB, et al. Among authors: lourenco cm. Neuromuscul Disord. 2021 Jun;31(6):505-511. doi: 10.1016/j.nmd.2021.03.005. Epub 2021 Mar 20. Neuromuscul Disord. 2021. PMID: 33903021

2

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.

Gouvea SP, S Borghetti VH, Bueno KC, Genari AB, Lourenço CM, Sobreira C, Barreira AA, Marques W Jr. Gouvea SP, et al. Among authors: lourenco cm. Neurogenetics. 2010 Feb;11(1):135-8. doi: 10.1007/s10048-009-0211-3. Epub 2009 Aug 25. Neurogenetics. 2010. PMID: 19705173

3

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: lourenco cm. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.

4

Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.

Marques W Jr, Funayama CA, Secchin JB, Lourenço CM, Gouvêa SP, Marques VD, Bastos PG, Barreira AA. Marques W Jr, et al. Among authors: lourenco cm. Muscle Nerve. 2010 Oct;42(4):598-600. doi: 10.1002/mus.21753. Muscle Nerve. 2010. PMID: 20878740

5

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

Genari AB, Borghetti VH, Gouvêa SP, Bueno KC, dos Santos PL, dos Santos AC, Barreira AA, Lourenço CM, Marques W Jr. Genari AB, et al. Among authors: lourenco cm. Neuromuscul Disord. 2011 Jun;21(6):428-32. doi: 10.1016/j.nmd.2011.03.008. Epub 2011 Apr 29. Neuromuscul Disord. 2011. PMID: 21531138

6

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

Lourenço CM, Dupré N, Rivière JB, Rouleau GA, Marques VD, Genari AB, Santos AC, Barreira AA, Marques W Jr. Lourenço CM, et al. J Peripher Nerv Syst. 2012 Mar;17(1):123-7. doi: 10.1111/j.1529-8027.2012.00374.x. J Peripher Nerv Syst. 2012. PMID: 22462673

7

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

Lourenço CM, Simão GN, Santos AC, Marques W Jr. Lourenço CM, et al. Arq Neuropsiquiatr. 2012 Jul;70(7):487-91. doi: 10.1590/s0004-282x2012000700003. Arq Neuropsiquiatr. 2012. PMID: 22836452 Free article.

8

Coexistence of CMT1A and diabetes mellitus in a young woman with a severe and progressive neuropathy and respiratory insufficiency.

Carvalho MA, Secchin JB, Lourenço CM, Leal RC, Bueno KC, Barreira AA, Marques W Jr. Carvalho MA, et al. Among authors: lourenco cm. Muscle Nerve. 2013 Jan;47(1):141-2. doi: 10.1002/mus.23459. Epub 2012 Sep 27. Muscle Nerve. 2013. PMID: 23019075 No abstract available.

9

Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).

Calia L, Marques W Jr, Gouvea SP, Lourenço CM, de Oliveira AS. Calia L, et al. Among authors: lourenco cm. Arq Neuropsiquiatr. 2013 May;71(5):332-3. doi: 10.1590/0004-282x20130031. Arq Neuropsiquiatr. 2013. PMID: 23689413 Free article. No abstract available.

10

Quality of life in patients with Charcot-Marie-Tooth disease type 1A.

Taniguchi JB, Elui VM, Osório FL, Hallak JE, Crippa JA, Machado-de-Sousa JP, Kebbe LM, Lourenço CM, Scarel-Caminaga RM, Marques W Jr. Taniguchi JB, et al. Among authors: lourenco cm. Arq Neuropsiquiatr. 2013 Jun;71(6):392-6. doi: 10.1590/0004-282X20130045. Arq Neuropsiquiatr. 2013. PMID: 23828533 Free article.

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