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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
J Neurol. 2023 Sep;270(9):4219-4234. doi: 10.1007/s00415-023-11762-7. Epub 2023 May 12.
J Neurol. 2023.
PMID: 37171481
GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants.
Martins S, Santos MJ, Teixeira M, Diogo L, do Carmo Macário M, Marques JP, Fonseca P, Grazina M.
Martins S, et al. Among authors: do carmo macario m.
Mitochondrion. 2023 Mar;69:64-70. doi: 10.1016/j.mito.2023.01.006. Epub 2023 Jan 28.
Mitochondrion. 2023.
PMID: 36716943
Free article.
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Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations.
Oliveira AR, Martins S, Cammarata G, Martins M, Cardoso AM, Almeida MR, do Carmo Macário M, Santana I, Peça J, Cardoso AL.
Oliveira AR, et al. Among authors: do carmo macario m.
Biomedicines. 2022 Aug 6;10(8):1905. doi: 10.3390/biomedicines10081905.
Biomedicines. 2022.
PMID: 36009452
Free PMC article.
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PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
Messerschmidt C, Foddis M, Blumenau S, Müller S, Bentele K, Holtgrewe M, Kun-Rodrigues C, Alonso I, do Carmo Macario M, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Senatore A, Berchtold D, Winek K, Meisel A, Pavlovic A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Guven G, Bilgic B, Bras J, Guerreiro R, Beule D, Dirnagl U, Sassi C.
Messerschmidt C, et al. Among authors: do carmo macario m.
Sci Rep. 2021 Mar 16;11(1):6072. doi: 10.1038/s41598-021-84919-x.
Sci Rep. 2021.
PMID: 33727568
Free PMC article.
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Phospholipase A2 and Ischemic Stroke Etiology.
Ramos-Lopes J, Varela R, Pascoal R, Rodrigues F, Coelho J, Almendra L, Duque C, Rodrigues B, Machado C, Nunes C, Carmo-Macário M, Santo G, Silva F, Sargento-Freitas J.
Ramos-Lopes J, et al. Among authors: carmo macario m.
Neurologist. 2021 Mar 4;26(2):32-35. doi: 10.1097/NRL.0000000000000329.
Neurologist. 2021.
PMID: 33646986
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Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS.
Hamilton EMC, et al.
Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
Ann Neurol. 2018.
PMID: 30014503
Free PMC article.
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Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Ribeiro C, do Carmo Macário M, Viegas AT, Pratas J, Santos MJ, Simões M, Mendes C, Bacalhau M, Garcia P, Diogo L, Grazina M.
Ribeiro C, et al. Among authors: do carmo macario m.
Mitochondrion. 2016 Nov;31:84-88. doi: 10.1016/j.mito.2016.10.004. Epub 2016 Oct 15.
Mitochondrion. 2016.
PMID: 27756633
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