Leão M - Search Results

1

Alsin related disorders: literature review and case study with novel mutations.

Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leão M. Flor-de-Lima F, et al. Among authors: leao m. Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14. Case Rep Genet. 2014. PMID: 25302125 Free PMC article.

2

Syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL): a pediatric case report.

Gonçalves D, Meireles J, Rocha R, Sampaio M, Leão M. Gonçalves D, et al. Among authors: leao m. J Child Neurol. 2013 Dec;28(12):1661-3. doi: 10.1177/0883073812462063. Epub 2012 Oct 17. J Child Neurol. 2013. PMID: 23076427

3

Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

Sampaio M, Rocha R, Biskup S, Leão M. Sampaio M, et al. Among authors: leao m. J Child Neurol. 2015 Apr;30(5):622-4. doi: 10.1177/0883073813479169. Epub 2013 Mar 26. J Child Neurol. 2015. PMID: 23533165

4

Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis.

Alves D, Sampaio M, Figueiredo R, Leão M. Alves D, et al. Among authors: leao m. Am J Med Genet A. 2013 Jul;161A(7):1768-72. doi: 10.1002/ajmg.a.35968. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696373

5

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

Corujeira S, Águeda S, Monteiro G, Canelhas A, Sampaio M, Rocha R, Leão M. Corujeira S, et al. Among authors: leao m. Eur J Med Genet. 2013 Nov;56(11):603-5. doi: 10.1016/j.ejmg.2013.09.005. Epub 2013 Sep 30. Eur J Med Genet. 2013. PMID: 24090718

6

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M. Santos-Silva R, et al. Among authors: leao m. Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642806

7

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Rocha H, Sampaio M, Rocha R, Fernandes S, Leão M. Rocha H, et al. Among authors: leao m. Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31. Eur J Med Genet. 2016. PMID: 27255693 Review.

8

Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.

Pereira S, Adrião M, Sampaio M, Basto MA, Rodrigues E, Vilarinho L, Teles EL, Alonso I, Leão M. Pereira S, et al. Among authors: leao m. JIMD Rep. 2018;42:113-119. doi: 10.1007/8904_2018_89. Epub 2018 Feb 25. JIMD Rep. 2018. PMID: 29478218 Free PMC article.

9

Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation.

Gonçalves D, Lourenço L, Guardiano M, Castro-Correia C, Sampaio M, Leão M. Gonçalves D, et al. Among authors: leao m. J Pediatr Neurosci. 2019 Jul-Sep;14(3):169-172. doi: 10.4103/jpn.JPN_108_18. Epub 2019 Sep 27. J Pediatr Neurosci. 2019. PMID: 31649781 Free PMC article.

10

[Persistent respiratory distress or something else?].

Amorim R, Catarino S, Pissarra R, Sampaio M, Leão M, Sousa R, Carvalho I. Amorim R, et al. Among authors: leao m. Rev Neurol. 2020 Jul 16;71(2):81-82. doi: 10.33588/rn.7102.2020062. Rev Neurol. 2020. PMID: 32627164 Free article. Spanish.

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