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Author Details

Amy Goldstein
Children's Hospital of Philadelphia
2008
77
28
PMIDPaper TitleJournal TitlePublished Year
36414085iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification.Am J Pathol2023
34052969Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.Cerebellum2022
36636586Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.JIMD Rep2022
36182714Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.Mol Genet Metab2022
36166762A Tale of Progressive Painless Vision Loss in a 64-Year-Old Man Due to Leber Hereditary Optic Neuropathy.J Neuroophthalmol2022
35216885Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.Mol Genet Metab2022
35119291End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> Variants.Circ Genom Precis Med2022
34270139Nutrition rehabilitation-related complications in primary mitochondrial disorders.Nutr Clin Pract2022
33016339Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.J Inherit Metab Dis2021
33718511Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A&gt;G Variant in Children.Child Neurol Open2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
35071983Development of a Mitochondrial Myopathy-Composite Assessment Tool.JCSM Clin Rep2021
34480796Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
33970200Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Brain2021
33368550Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".Ann Neurol2021
33384291Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children.AJNR Am J Neuroradiol2021
32133637First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.Clin Genet2020
31896620Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.Neurology2020
32096613A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.J Cachexia Sarcopenia Muscle2020
31825167Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.Am J Med Genet A2020
33136487Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.Radiographics2020
32699718A Tale of Two Brothers: Familial Voltage-Gated Potassium Channel Autoimmune Encephalitis.Cureus2020
32445240Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.Ann Neurol2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
32387008Phenotypic and Imaging Spectrum Associated With WDR45.Pediatr Neurol2020
30683676Diagnosis of 'possible' mitochondrial disease: an existential crisis.J Med Genet2019
31653361Fatigue in primary genetic mitochondrial disease: No rest for the weary.Neuromuscul Disord2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31516925Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery.Data Brief2019
31568715Characterization of the renal phenotype in RMND1-related mitochondrial disease.Mol Genet Genomic Med2019
31479473Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.PLoS One2019
31045291Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.Hum Mutat2019
31031012Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.Am J Hum Genet2019
30763462MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.Hum Mutat2019
31138493Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.Mol Genet Metab2019
28980269Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.J Inherit Metab Dis2018
29961496A Newborn With Hyperlactatemia and Epileptic Encephalopathy.Semin Pediatr Neurol2018
30086109Neuroimaging of Mitochondrial Cytopathies.Top Magn Reson Imaging2018
30740406Mitochondrial disorders.Ann Transl Med2018
30326976Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.Cardiol Young2018
29500292Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.Neurology2018
29447355A recurrent de novo missense mutation in UBTF causes developmental neuroregression.Hum Mol Genet2018
29594260Endocrine Disorders in Primary Mitochondrial Disease.J Endocr Soc2018
29261183Revisiting mitochondrial diagnostic criteria in the new era of genomics.Genet Med2018
29300972A recurrent de novo missense mutation in UBTF causes developmental neuroregression.Hum Mol Genet2018
27843092RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.Pediatr Neurol2017
28303425Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.J Inherit Metab Dis2017
28442181Hospitalizations for mitochondrial disease across the lifespan in the U.S.Mol Genet Metab2017
29215644Response to Newman et al.Genet Med2017
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
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Collaborators

Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 17
Sumit Parikh
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 16
Bruce H Cohen
Akron Children's Hospital
Co-authored papers 13
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 12
Richard Haas
University of California
Co-authored papers 11
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 10
Jerry Vockley
Co-authored papers 10
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 9
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 8
Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 8
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 8
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 7
Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 7
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 7
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 6
Robert McFarland
Newcastle University
Co-authored papers 6
Arastoo Vossough
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 6
William B Dobyns
University of Minnesota
Co-authored papers 5
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 4
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 4
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 3
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Yi Shiau Ng
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 3
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 3
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 3
Kathleen A Leppig
Kaiser Permanente Washington
Co-authored papers 2
Joseph G Gleeson
University of California
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