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Author Details

Richard Haas
University of California
1981
131
44
PMIDPaper TitleJournal TitlePublished Year
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
32810002Optical Flow Estimation Improves Automated Seizure Detection in Neonatal EEG.J Clin Neurophysiol2022
35606253Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Mol Genet Metab2022
35568815Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.J Neurodev Disord2022
35318820Analysis of X-inactivation status in a Rett syndrome natural history study cohort.Mol Genet Genomic Med2022
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
35197517Mitochondrial dysfunction associated with TANGO2 deficiency.Sci Rep2022
34779830Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.JAMA Neurol2022
32928896Does the first hour of continuous electroencephalography predict neonatal seizures?Arch Dis Child Fetal Neonatal Ed2021
35071983Development of a Mitochondrial Myopathy-Composite Assessment Tool.JCSM Clin Rep2021
34076366Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.Mol Genet Genomic Med2021
33249780Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.Ann Clin Transl Neurol2021
32385134Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.Pediatrics2020
32096613A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.J Cachexia Sarcopenia Muscle2020
33211820A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.Am J Intellect Dev Disabil2020
32601614The North American mitochondrial disease registry.J Transl Genet Genom2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
30289769Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring.J Clin Neurophysiol2019
31653361Fatigue in primary genetic mitochondrial disease: No rest for the weary.Neuromuscul Disord2019
31213034Mitochondrial Dysfunction in Aging and Diseases of Aging.Biology (Basel)2019
31621627Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.Parkinsonism Relat Disord2019
31083534CoQ10 and Aging.Biology (Basel)2019
29594260Endocrine Disorders in Primary Mitochondrial Disease.J Endocr Soc2018
30128325Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Ann Clin Transl Neurol2018
29500292Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.Neurology2018
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
29215644Response to Newman et al.Genet Med2017
27312126Solid organ transplantation in primary mitochondrial disease: Proceed with caution.Mol Genet Metab2016
25503498Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2015
25757798Platelet mitochondrial activity and pesticide exposure in early Parkinson's disease.Mov Disord2015
23891656Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.Mitochondrion2014
25192510Mitochondrial disorders affecting the nervous system.Semin Neurol2014
24664227A randomized clinical trial of high-dosage coenzyme Q10 in early Parkinson disease: no evidence of benefit.JAMA Neurol2014
24491487A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Neuromuscul Disord2014
24141271Assessing bioenergetic compromise in autism spectrum disorder with 31P magnetic resonance spectroscopy: preliminary report.J Child Neurol2014
24016528Automated methods for the analysis of skeletal muscle fiber size and metabolic type.Int Rev Cell Mol Biol2013
24061067Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.JAMA Neurol2013
23894440Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.PLoS One2013
22424942Effects of endotracheal intubation and surfactant on a 3-channel neonatal electroencephalogram.J Pediatr2012
22925728Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.FASEB J2012
22538295Mitochondrial and ion channel gene alterations in autism.Biochim Biophys Acta2012
22495532A seven-day study of the pharmacokinetics of intravenous levetiracetam in neonates: marked changes in pharmacokinetics occur during the first week of life.Pediatr Res2012
20959851Platelet mitochondrial complex I and I+III activities do not correlate with cerebral mitochondrial oxidative metabolism.J Cereb Blood Flow Metab2011
21633293Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.Genet Med2011
21187165Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease.Mitochondrion2011
20818729Autism and mitochondrial disease.Dev Disabil Res Rev2010
19027335Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.Mol Genet Metab2009
19891905A modern approach to the treatment of mitochondrial disease.Curr Treat Options Neurol2009
19513681Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis.Methods Mol Biol2009
18165269Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation.J Mol Diagn2008
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Collaborators

William L Nyhan
University of California
Co-authored papers 17
Robert K Naviaux
University of California, San Diego School of Medicine
Co-authored papers 17
Bruce A Barshop
University of California San Diego
Co-authored papers 13
Bruce H Cohen
Akron Children's Hospital
Co-authored papers 13
Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 12
Amy Goldstein
Children's Hospital of Philadelphia
Co-authored papers 11
Sumit Parikh
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 11
David A Stumpf
Northwestern University Feinberg School of Medicine
Co-authored papers 10
Eric Courchesne
University of California
Co-authored papers 10
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 9
Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 9
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 7
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 7
Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 7
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 6
Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 6
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 4
Jerry Vockley
Co-authored papers 4
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 4
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 3
Natacha Akshoomoff
University of California San Diego
Co-authored papers 3
Douglas C Wallace
Co-authored papers 3
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 3
Catherine Lord
University of California los angeles
Co-authored papers 3
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Co-authored papers 3
Nancy J Cox
Vanderbilt University Medical Center
Co-authored papers 2
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Edwin H Cook
Co-authored papers 2
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
Release 1.2