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17 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
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.
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.
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.
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.
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.
Increased polyubiquitination and proteasomal degradation of a Munc18-1 disease-linked mutant causes temperature-sensitive defect in exocytosis.
Martin S, Papadopulos A, Tomatis VM, Sierecki E, Malintan NT, Gormal RS, Giles N, Johnston WA, Alexandrov K, Gambin Y, Collins BM, Meunier FA. Martin S, et al. Among authors: malintan nt. Cell Rep. 2014 Oct 9;9(1):206-218. doi: 10.1016/j.celrep.2014.08.059. Epub 2014 Oct 2. Cell Rep. 2014. PMID: 25284778 Free article.
17 results