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 Custom Filters

Results by year

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

Year Number of Results
1962 1
1985 2
1987 3
1988 2
1989 3
1990 2
1992 2
1993 3
1994 2
1995 3
1996 3
1997 2
1998 2
1999 1
2000 3
2001 1
2002 4
2003 3
2004 3
2005 5
2006 4
2007 7
2009 2
2010 3
2011 5
2012 10
2013 8
2014 7
2015 7
2016 8
2017 4
2018 4
2019 4
2020 9
2021 7
2022 5
2023 3
2024 2
2025 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

144 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: benkirane 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.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Professor Mark Wainberg.
Benkirane M, Berkhout B, Borrow P, Fassati A, Fujii M, Garcia JV, Gorry P, Lever A, Mak J, Nijhuis M, Strebel K, Venter F, Weiss R. Benkirane M, et al. Retrovirology. 2017 May 5;14(1):30. doi: 10.1186/s12977-017-0353-6. Retrovirology. 2017. PMID: 28476171 Free PMC article. No abstract available.
SAMHD1 acts at stalled replication forks to prevent interferon induction.
Coquel F, Silva MJ, Técher H, Zadorozhny K, Sharma S, Nieminuszczy J, Mettling C, Dardillac E, Barthe A, Schmitz AL, Promonet A, Cribier A, Sarrazin A, Niedzwiedz W, Lopez B, Costanzo V, Krejci L, Chabes A, Benkirane M, Lin YL, Pasero P. Coquel F, et al. Among authors: benkirane m. Nature. 2018 May;557(7703):57-61. doi: 10.1038/s41586-018-0050-1. Epub 2018 Apr 18. Nature. 2018. PMID: 29670289
Obituary: Kuan-Teh Jeang.
Berkhout B, Benkirane M, Lever A, Wainberg M, Fassati A, Borrow P, Fujii M, Sriskantharajah S, Cockerill M. Berkhout B, et al. Among authors: benkirane m. Retrovirology. 2013 Mar 21;10:28. doi: 10.1186/1742-4690-10-28. Retrovirology. 2013. PMID: 23517684 Free PMC article.
A trip down memory lane with Retrovirology.
Benkirane M, Berkhout B, Borrow P, Fassati A, Fujii M, Garcia-Martinez JV, Margolis D, Nijhuis M, Parent L, Strebel K, Venter F, Kirchhoff F, Lever A, Ross S, Mak J. Benkirane M, et al. Retrovirology. 2019 Aug 21;16(1):22. doi: 10.1186/s12977-019-0485-y. Retrovirology. 2019. PMID: 31434571 Free PMC article. No abstract available.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Brain. 2024 Nov 4;147(11):3681-3689. doi: 10.1093/brain/awae193. Brain. 2024. PMID: 38884572
144 results