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
2002 2
2003 1
2004 1
2005 2
2006 2
2007 3
2008 3
2009 3
2011 1
2013 1
2014 2
2015 1
2016 2
2017 1
2018 4
2019 3
2020 6
2021 5
2022 5
2023 5
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

49 results

Results by year

Filters applied: . Clear all
Page 1
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: cossee m. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC. Benkirane M, et al. Among authors: cossee m. Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. Brain. 2022. PMID: 35883251
Frataxin knockin mouse.
Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M. Miranda CJ, et al. Among authors: cossee m. FEBS Lett. 2002 Feb 13;512(1-3):291-7. doi: 10.1016/s0014-5793(02)02251-2. FEBS Lett. 2002. PMID: 11852098 Free article.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: cossee m. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: cossee m. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Perrin A, et al. Among authors: cossee m. J Mol Diagn. 2022 Jul;24(7):719-726. doi: 10.1016/j.jmoldx.2022.04.006. Epub 2022 May 14. J Mol Diagn. 2022. PMID: 35580751 Free article.
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: cossee m. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
49 results