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

Year Number of Results
1979 1
1980 2
1983 1
1985 1
1986 1
1989 2
1990 1
1996 1
2000 2
2002 2
2003 3
2004 3
2005 3
2006 7
2007 4
2008 8
2009 6
2010 10
2011 6
2012 1
2013 2
2014 5
2015 7
2016 7
2017 1
2018 8
2019 4
2020 3
2021 6
2022 6
2023 5
2024 5
2025 4

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115 results

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Page 1
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 May 9;116:105725. doi: 10.1016/j.ebiom.2025.105725. Online ahead of print. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E, Caramizaru A, Lee H, Kim J, Shoaito H, Pennisi A, Souvannanorath S, Authier FJ, Dumitrescu A, Fahmy N, Escobar-Cedillo RE, Miranda-Duarte A, Luna-Angulo AB, Nouioua S, Benchaabi O, Tazir M, Hallal S, Martinez P, Castiglioni C, Dobrescu A, Tajsharghi H. Malfatti E, et al. Among authors: tazir m. Clin Genet. 2025 Feb 25. doi: 10.1111/cge.14736. Online ahead of print. Clin Genet. 2025. PMID: 40000157
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Bertini A, Reilly MM, Pisciotta C, Previtali SC, Parman Y, Battaloglu E, Laurà M, Blake J, Sacconi S, Attarian S, Stojkovic T, Bellatache M, Nouioua S, Tazir M, Cakar A, Gambardella A, Valentino P, Lewis RA, Horvath R, Zambon AA, Sabatelli M, Luigetti M, Tozza S, Manganelli F, Herrmann DN, Scherer SS, Kressin N, Ward K, Bolino A, Shy ME, Pareyson D; CMT4B Study Group; Inherited Neuropathy Consortium. Bertini A, et al. Among authors: tazir m. Eur J Neurol. 2025 Feb;32(2):e70084. doi: 10.1111/ene.70084. Eur J Neurol. 2025. PMID: 39943887 Free PMC article.
Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.
Kediha MI, Tazir M, Sternberg D, Eymard B, Ali Pacha L. Kediha MI, et al. Among authors: tazir m. Neurol Clin Pract. 2024 Jun;14(3):e200277. doi: 10.1212/CPJ.0000000000200277. Epub 2024 May 7. Neurol Clin Pract. 2024. PMID: 38737513 Free PMC article.
Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
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.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: tazir m. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
115 results