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Luan T Tran

Explore the profile of Luan T Tran including associated specialties, affiliations and a list of published articles. Areas
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Articles 27
Citations 353
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Recent Articles
1.
Macintosh J, Perrier S, Pinard M, Tran L, Guerrero K, Prasad C, et al.
Front Neurol . 2023 Nov; 14:1254140. PMID: 37915380
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we...
2.
Chapleau A, Mirchi A, Tran L, Poulin C, Bernard G
Pediatr Neurol . 2023 Sep; 148:133-137. PMID: 37713976
Background: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and...
3.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran L, et al.
Orphanet J Rare Dis . 2023 Jul; 18(1):187. PMID: 37443037
Background: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized...
4.
Yazdani P, St-Jean M, Matovic S, Spahr A, Tran L, Boucher R, et al.
J Child Neurol . 2023 May; 38(5):329-335. PMID: 37225698
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health...
5.
Mirchi A, Guay S, Tran L, Wolf N, Vanderver A, Brais B, et al.
J Med Genet . 2023 May; 60(10):1026-1034. PMID: 37197783
Background: RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic pathogenic variants...
6.
Perrier S, Guerrero K, Tran L, Michell-Robinson M, Legault G, Brais B, et al.
Front Neurol . 2023 Apr; 14:1148377. PMID: 37077564
Introduction: Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a...
7.
Mirchi A, Derksen A, Tran L, De Bie I, Nadeau A, Lovett A, et al.
Neurogenetics . 2022 Aug; 23(4):271-274. PMID: 35920923
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic...
8.
Michell-Robinson M, Perrier S, Lucia C, Tran L, Thiffault I, Kohler W, et al.
Neurology . 2022 Feb; 98(16):675-677. PMID: 35190466
No abstract available.
9.
Derksen A, Shih H, Forget D, Darbelli L, Tran L, Poitras C, et al.
HGG Adv . 2022 Jan; 2(3):100034. PMID: 35047835
Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many individuals remain...
10.
Yazdani P, St-Jean M, Matovic S, Spahr A, Tran L, Boucher R, et al.
J Child Neurol . 2022 Jan; 37(4):237-245. PMID: 34986037
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. Because of the COVID-19 pandemic, many health care services were suspended, delayed or delivered...