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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2009 2
2010 1
2011 1
2013 2
2014 1
2017 1
2019 4
2020 1
2022 2
2024 1

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17 results

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Page 1
Munc18-1 as a key regulator of neurosecretion.
Han GA, Malintan NT, Collins BM, Meunier FA, Sugita S. Han GA, et al. Among authors: malintan nt. J Neurochem. 2010 Oct;115(1):1-10. doi: 10.1111/j.1471-4159.2010.06900.x. J Neurochem. 2010. PMID: 20681955 Free article. Review.
Improving the efficiency and effectiveness of an industrial SARS-CoV-2 diagnostic facility.
Douthwaite JA, Brown CA, Ferdinand JR, Sharma R, Elliott J, Taylor MA, Malintan NT, Duvoisin H, Hill T, Delpuech O, Orton AL, Pitt H, Kuenzi F, Fish S, Nicholls DJ, Cuthbert A, Richards I, Ratcliffe G, Upadhyay A, Marklew A, Hewitt C, Ross-Thriepland D, Brankin C, Chodorge M, Browne G, Mander PK, DeWildt RM, Weaver S, Smee PA, van Kempen J, Bartlett JG, Allen PM, Koppe EL, Ashby CA, Phipps JD, Mehta N, Brierley DJ, Tew DG, Leveridge MV, Baddeley SM, Goodfellow IG, Green C, Abell C, Neely A, Waddell I, Rees S, Maxwell PH, Pangalos MN, Howes R, Clark R. Douthwaite JA, et al. Among authors: malintan nt. Sci Rep. 2022 Feb 24;12(1):3114. doi: 10.1038/s41598-022-06873-6. Sci Rep. 2022. PMID: 35210470 Free PMC article.
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Among authors: malintan nt. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: malintan n. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Heat inactivation of clinical COVID-19 samples on an industrial scale for low risk and efficient high-throughput qRT-PCR diagnostic testing.
Delpuech O, Douthwaite JA, Hill T, Niranjan D, Malintan NT, Duvoisin H, Elliott J, Goodfellow I, Hosmillo M, Orton AL, Taylor MA, Brankin C, Pitt H, Ross-Thriepland D, Siek M, Cuthbert A, Richards I, Ferdinand JR, Barker C, Shaw R, Ariani C, Waddell I, Rees S, Green C, Clark R, Upadhyay A, Howes R. Delpuech O, et al. Among authors: malintan nt. Sci Rep. 2022 Feb 21;12(1):2883. doi: 10.1038/s41598-022-06888-z. Sci Rep. 2022. PMID: 35190592 Free PMC article.
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Efthymiou S, Han W, Ilyas M, Li J, Yu Y, Scala M, Malintan NT, Ilyas M, Vavouraki N, Mankad K, Maroofian R, Rocca C, Salpietro V, Lakhani S, Mallack EJ, Palculict TB, Li H, Zhang G, Zafar F, Rana N, Takashima N, Matsunaga H, Manzoni C, Striano P, Lythgoe MF, Aruga J, Lu W, Houlden H. Efthymiou S, et al. Among authors: malintan nt. Front Mol Neurosci. 2024 Mar 1;17:1222935. doi: 10.3389/fnmol.2024.1222935. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38495551 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: malintan nt. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
17 results