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Year | Number of Results |
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2022 | 3 |
2023 | 3 |
2024 | 2 |
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Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics.
EBioMedicine. 2022 Nov;85:104314. doi: 10.1016/j.ebiom.2022.104314. Epub 2022 Oct 29.
EBioMedicine. 2022.
PMID: 36374771
Free PMC article.
ECHS1 deficiency and its biochemical and clinical phenotype.
Ozlu C, Chelliah P, Dahshi H, Horton D, Edgar VB, Messahel S, Kayani S.
Ozlu C, et al. Among authors: messahel s.
Am J Med Genet A. 2022 Oct;188(10):2908-2919. doi: 10.1002/ajmg.a.62895. Epub 2022 Jul 20.
Am J Med Genet A. 2022.
PMID: 35856138
Item in Clipboard
Natural History of SURF1 Deficiency: A Retrospective Chart Review.
Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S.
Khan TR, et al. Among authors: messahel s.
Pediatr Neurol. 2023 Mar;140:40-46. doi: 10.1016/j.pediatrneurol.2022.12.002. Epub 2022 Dec 7.
Pediatr Neurol. 2023.
PMID: 36599233
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Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.
Ozlu C, Messahel S, Minassian B, Kayani S.
Ozlu C, et al. Among authors: messahel s.
Eur J Paediatr Neurol. 2024 Mar 28;50:31-40. doi: 10.1016/j.ejpn.2024.03.005. Online ahead of print.
Eur J Paediatr Neurol. 2024.
PMID: 38583367
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Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S.
Zilber S, et al. Among authors: messahel s.
Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0.
Orphanet J Rare Dis. 2023.
PMID: 37667390
Free PMC article.
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Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research.
Bordes Edgar V, Dorsman KA, Horton D, Messahel S, MacDonald B.
Bordes Edgar V, et al. Among authors: messahel s.
Child Neuropsychol. 2023 Nov 20:1-18. doi: 10.1080/09297049.2023.2283939. Online ahead of print.
Child Neuropsychol. 2023.
PMID: 37982761
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1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease.
Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA.
Chan KL, et al. Among authors: messahel s.
Brain Commun. 2024 Mar 26;6(2):fcae104. doi: 10.1093/braincomms/fcae104. eCollection 2024.
Brain Commun. 2024.
PMID: 38585668
Free PMC article.
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