Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1996 1
1997 1
1998 1
2002 1
2003 1
2004 2
2005 7
2006 5
2007 7
2008 8
2009 2
2010 3
2011 9
2012 4
2013 2
2014 4
2015 2
2016 6
2018 5
2019 6
2020 10
2021 6
2022 5
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

87 results

Results by year

Filters applied: . Clear all
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.
Influence of Dietary Habits on Oxidative Stress Markers in Hashimoto's Thyroiditis.
Ruggeri RM, Giovinazzo S, Barbalace MC, Cristani M, Alibrandi A, Vicchio TM, Giuffrida G, Aguennouz MH, Malaguti M, Angeloni C, Trimarchi F, Hrelia S, Campennì A, Cannavò S. Ruggeri RM, et al. Among authors: aguennouz mh. Thyroid. 2021 Jan;31(1):96-105. doi: 10.1089/thy.2020.0299. Epub 2020 Nov 12. Thyroid. 2021. PMID: 32729374
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Methylome Analysis in Nonfunctioning and GH-Secreting Pituitary Adenomas.
Giuffrida G, D'Argenio V, Ferraù F, Lasorsa VA, Polito F, Aliquò F, Ragonese M, Cotta OR, Alessi Y, Oteri R, Di Maggio F, Asmundo A, Romeo PD, Spagnolo F, Pastore L, Angileri FF, Capasso M, Cannavò S, Aguennouz M. Giuffrida G, et al. Among authors: aguennouz m. Front Endocrinol (Lausanne). 2022 Mar 30;13:841118. doi: 10.3389/fendo.2022.841118. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35432200 Free PMC article.
(+)-Lipoic Acid Reduces Lipotoxicity and Regulates Mitochondrial Homeostasis and Energy Balance in an In Vitro Model of Liver Steatosis.
Longhitano L, Distefano A, Amorini AM, Orlando L, Giallongo S, Tibullo D, Lazzarino G, Nicolosi A, Alanazi AM, Saoca C, Macaione V, Aguennouz M, Salomone F, Tropea E, Barbagallo IA, Volti GL, Lazzarino G. Longhitano L, et al. Among authors: aguennouz m. Int J Mol Sci. 2023 Sep 23;24(19):14491. doi: 10.3390/ijms241914491. Int J Mol Sci. 2023. PMID: 37833939 Free PMC article.
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Gentile L, Russo M, Taioli F, Ferrarini M, Aguennouz M, Rodolico C, Toscano A, Fabrizi GM, Mazzeo A. Gentile L, et al. Among authors: aguennouz m. Brain Sci. 2021 Dec 8;11(12):1616. doi: 10.3390/brainsci11121616. Brain Sci. 2021. PMID: 34942918 Free PMC article.
CXCL12/CXCR4 axis supports mitochondrial trafficking in tumor myeloma microenvironment.
Giallongo C, Dulcamare I, Tibullo D, Del Fabro V, Vicario N, Parrinello N, Romano A, Scandura G, Lazzarino G, Conticello C, Li Volti G, Amorini AM, Musumeci G, Di Rosa M, Polito F, Oteri R, Aguennouz M, Parenti R, Di Raimondo F, Palumbo GA. Giallongo C, et al. Among authors: aguennouz m. Oncogenesis. 2022 Jan 21;11(1):6. doi: 10.1038/s41389-022-00380-z. Oncogenesis. 2022. PMID: 35064098 Free PMC article.
87 results