Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Alberto B. Burlina
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
American Journal of Human Genetics
Genetics
Related publications
Modifier Genes for Hypertrophic Cardiomyopathy
Current Opinion in Cardiology
Cardiovascular Medicine
Cardiology
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
American Journal of Human Genetics
Genetics
Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
Human Mutation
Genetics
Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
American Journal of Human Genetics
Genetics
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Modifier Genes in Hypertrophic Cardiomyopathy Patients of South Indian Cohort
International Journal of Genetics and Genomics
Altered Regulation of Cardiac Muscle Contraction by Troponin T Mutations That Cause Familial Hypertrophic Cardiomyopathy
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
