Lourenço CM - Search Results

1

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

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

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

4

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

5

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.

6

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.

7

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.

8

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.

9

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: lourenco cm. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845

10

Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia.

Cintra VP, Lourenço CM, Marques SE, de Oliveira LM, Tumas V, Marques W Jr. Cintra VP, et al. Among authors: lourenco cm. J Neurol Sci. 2014 Dec 15;347(1-2):375-9. doi: 10.1016/j.jns.2014.10.036. Epub 2014 Oct 31. J Neurol Sci. 2014. PMID: 25466696

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