Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.
Nephron
2020
144
3
156-160
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
2020
95
24
e3163-e3179
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Pediatr Pulmonol
2020
55
11
3057-3066
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.
Mol Genet Metab Rep
2020
25
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
PLoS ONE
2020
15
6
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
PLoS ONE
2020
15
9
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet
2020
98
5
507-514
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Circ Genom Precis Med
2020
13
6
599-608
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.
Front Pharmacol
2020
11
Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome.
J Clin Sleep Med
2020
16
10
1815-1817