Oliveira Santos M - Search Results

1

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.

Oliveira Santos M, Coelho P, Roque R, Conceição I. Oliveira Santos M, et al. J Clin Neurosci. 2020 Feb;72:471-473. doi: 10.1016/j.jocn.2019.12.003. Epub 2019 Dec 10. J Clin Neurosci. 2020. PMID: 31836381

2

Peripheral nerve involvement in classic homocystinuria: an unusual association.

Oliveira Santos M, Geraldes R, Conceição I. Oliveira Santos M, et al. BMJ Case Rep. 2016 Sep 28;2016:bcr2016216255. doi: 10.1136/bcr-2016-216255. BMJ Case Rep. 2016. PMID: 27681349 Free PMC article.

3

Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.

Oliveira Santos M, Evangelista T, Conceição I. Oliveira Santos M, et al. Neuromuscul Disord. 2018 Nov;28(11):965-968. doi: 10.1016/j.nmd.2018.08.002. Epub 2018 Aug 10. Neuromuscul Disord. 2018. PMID: 30314719

4

Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.

Oliveira Santos M, Ninitas P, Conceição I. Oliveira Santos M, et al. Neuromuscul Disord. 2018 Dec;28(12):1003-1005. doi: 10.1016/j.nmd.2018.09.009. Epub 2018 Oct 9. Neuromuscul Disord. 2018. PMID: 30415788

5

First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Coelho P, Oliveira Santos M. Coelho P, et al. Among authors: oliveira santos m. Neurol Sci. 2020 May;41(5):1289-1290. doi: 10.1007/s10072-019-04179-6. Epub 2019 Dec 5. Neurol Sci. 2020. PMID: 31807999 No abstract available.

6

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Falcão de Campos C, Oliveira Santos M, Roque R, Conceição I, de Carvalho M. Falcão de Campos C, et al. Among authors: oliveira santos m. Case Rep Neurol Med. 2019 Dec 11;2019:5976410. doi: 10.1155/2019/5976410. eCollection 2019. Case Rep Neurol Med. 2019. PMID: 31885962 Free PMC article.

7

Acute non-traumatic tetraparesis - Differential diagnosis.

Oliveira R, Ramalho Rocha F, Teodoro T, Oliveira Santos M. Oliveira R, et al. Among authors: oliveira santos m. J Clin Neurosci. 2021 May;87:116-124. doi: 10.1016/j.jocn.2021.02.024. Epub 2021 Mar 20. J Clin Neurosci. 2021. PMID: 33863518 Review.

8

Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers.

Santos Silva C, Oliveira Santos M, Gromicho M, Pronto-Laborinho A, Conceição I, de Carvalho M. Santos Silva C, et al. Among authors: oliveira santos m. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov;23(7-8):627-629. doi: 10.1080/21678421.2022.2029899. Epub 2022 Feb 10. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 35142241

9

Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.

Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators. Adams D, et al. Amyloid. 2023 Mar;30(1):1-9. doi: 10.1080/13506129.2022.2091985. Epub 2022 Jul 23. Amyloid. 2023. PMID: 35875890 Free article. Clinical Trial.

10

Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort.

Oliveira R, Sotero FD, Coelho J, Roque R, Moreno T, Oliveira Santos M. Oliveira R, et al. Among authors: oliveira santos m. J Clin Neurosci. 2022 Dec;106:43-48. doi: 10.1016/j.jocn.2022.10.007. Epub 2022 Oct 17. J Clin Neurosci. 2022. PMID: 36265364

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