Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association
SE Lipshultz, YM Law, A Asante-Korang, ED Austin… - Circulation, 2019 - Am Heart Assoc
In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …
Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline
RE Hershberger, MM Givertz, CY Ho, DP Judge… - Journal of cardiac …, 2018 - Elsevier
This guideline describes the approach and expertise needed for the genetic evaluation of
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …
Left ventricular non-compaction cardiomyopathy
JA Towbin, A Lorts, JL Jefferies - The Lancet, 2015 - thelancet.com
Left ventricular non-compaction, the most recently classified form of cardiomyopathy, is
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American …
BJ Gersh, BJ Maron, RO Bonow, JA Dearani, MA Fifer… - Circulation, 2011 - Am Heart Assoc
The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …
extensive evidence review was conducted through January 2011. Searches were limited to …
[HTML][HTML] Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …
management and care for patients with primary mitochondrial disease. This statement is …
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …
MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology …
BJ Gersh, BJ Maron, RO Bonow, JA Dearani, MA Fifer… - Circulation, 2011 - Am Heart Assoc
The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …
extensive evidence review was conducted through January 2011. Searches were limited to …
[HTML][HTML] Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis
DA Rossignol, RE Frye - Molecular psychiatry, 2012 - nature.com
A comprehensive literature search was performed to collate evidence of mitochondrial
dysfunction in autism spectrum disorders (ASDs) with two primary objectives. First, features …
dysfunction in autism spectrum disorders (ASDs) with two primary objectives. First, features …
Primary mitochondrial disease and secondary mitochondrial dysfunction: importance of distinction for diagnosis and treatment
DM Niyazov, SG Kahler, RE Frye - Molecular syndromology, 2016 - karger.com
Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …