Luan T Tran
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Explore the profile of Luan T Tran including associated specialties, affiliations and a list of published articles.
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27
Citations
353
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Recent Articles
11.
Derksen A, Mirchi A, Tran L, Cao-Lei L, Oskoui M, Srour M, et al.
Child Neurol Open
. 2021 Aug;
8:2329048X211027438.
PMID: 34368388
Mutations in have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons...
12.
Spahr A, Rosli Z, Legault M, Tran L, Fournier S, Toutounchi H, et al.
Orphanet J Rare Dis
. 2021 Jul;
16(1):328.
PMID: 34301277
Background: Rare diseases are estimated to affect 150-350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for...
13.
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, et al.
J Clin Endocrinol Metab
. 2020 Oct;
106(2):e660-e674.
PMID: 33005949
Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The...
14.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop M, Michell-Robinson M, Tran L, et al.
Neurol Genet
. 2020 Jun;
6(3):e425.
PMID: 32582862
Objective: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. Methods: We performed an international cross-sectional study...
15.
Gauquelin L, Cayami F, Sztriha L, Yoon G, Tran L, Guerrero K, et al.
Neurol Genet
. 2020 Feb;
5(6):e369.
PMID: 32042905
Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic pathogenic variants. Methods: A cross-sectional observational study involving 25 centers worldwide was...
16.
Al Yazidi G, Tran L, Guerrero K, Vanderver A, Schiffmann R, Wolf N, et al.
Mov Disord Clin Pract
. 2019 Mar;
6(2):155-159.
PMID: 30838315
Objectives: To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features. Background: POLR3-related leukodystrophy is a hypomyelinating leukodystrophy...
17.
Friedman J, Smith D, Issa M, Stanley V, Wang R, Mendes M, et al.
Nat Commun
. 2019 Feb;
10(1):707.
PMID: 30755602
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause...
18.
Mirchi A, Pelletier F, Tran L, Keller S, Braverman N, Tonduti D, et al.
Pediatr Neurol
. 2018 Jun;
84:21-26.
PMID: 29859719
Background: We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence...
19.
Mendes M, Salazar M, Guerrero K, Thiffault I, Salomons G, Gauquelin L, et al.
Am J Hum Genet
. 2018 Mar;
102(4):676-684.
PMID: 29576217
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we...
20.
Gauquelin L, Tran L, Chouinard S, Bernard G
Tremor Other Hyperkinet Mov (N Y)
. 2017 Nov;
7:508.
PMID: 29109906
No abstract available.