El-Bazzal L - Search Results

1

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.

El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, Delague V, Bernard-Marissal N. El-Bazzal L, et al. Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402. Brain. 2023. PMID: 36314052 Free PMC article.

2

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.

Bos R, Rihan K, Quintana P, El-Bazzal L, Bernard-Marissal N, Da Silva N, Jabbour R, Mégarbané A, Bartoli M, Brocard F, Delague V. Bos R, et al. Among authors: el bazzal l. Neurobiol Dis. 2022 Mar;164:105609. doi: 10.1016/j.nbd.2021.105609. Epub 2022 Jan 3. Neurobiol Dis. 2022. PMID: 34990802 Free article.

3

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A. Bizzari S, et al. Among authors: el bazzal l. Eur J Med Genet. 2020 May;63(5):103869. doi: 10.1016/j.ejmg.2020.103869. Epub 2020 Jan 30. Eur J Med Genet. 2020. PMID: 32006683 Review.

4

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: el bazzal l. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.

5

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. El-Bazzal L, et al. Hum Mol Genet. 2019 Jul 15;28(14):2378-2394. doi: 10.1093/hmg/ddz060. Hum Mol Genet. 2019. PMID: 31090908

6

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Among authors: el bazzal l. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442

7

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).

El-Bazzal L, Atkinson A, Gillart AC, Obeid M, Delague V, Mégarbané A. El-Bazzal L, et al. Eur J Med Genet. 2019 Apr;62(4):259-264. doi: 10.1016/j.ejmg.2018.07.025. Epub 2018 Jul 31. Eur J Med Genet. 2019. PMID: 30075207

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

7 results

Search Page