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Author Details

Sumit Parikh
Center for Pediatric Neurosciences, Cleveland Clinic
2004
78
26
PMIDPaper TitleJournal TitlePublished Year
36813313Currently available therapies in mitochondrial disease.Handb Clin Neurol2023
37701326Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.JIMD Rep2023
37646180Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice.J Prim Care Community Health2023
37732815Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.Am J Hematol2023
37386249Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.Nat Genet2023
37442408Conduction defects in pediatric patients with Pearson syndrome: When to pace?Heart Rhythm2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
37293976Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.Epileptic Disord2023
34740135Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.Pediatr Neurol2022
36315135Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.JAMA Neurol2022
36137748Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.Life Sci Alliance2022
35317023Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.Adv Genet (Hoboken)2022
32518176<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum.J Med Genet2021
33827363Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.Ophthalmic Genet2021
33597769DLG4-related synaptopathy: a new rare brain disorder.Genet Med2021
33621819Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.Eur J Paediatr Neurol2021
33783914Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.Hum Mutat2021
33610586Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.Surv Ophthalmol2021
34862134Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.Mol Genet Metab2021
34815418Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.Nat Commun2021
34400813PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2021
34662929Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.Ann Clin Transl Neurol2021
33029936Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Am J Med Genet A2021
33351065Early-onset phenotype of bi-allelic GRN mutations.Brain2021
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
33204598Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.JIMD Rep2020
30683676Diagnosis of 'possible' mitochondrial disease: an existential crisis.J Med Genet2019
31653361Fatigue in primary genetic mitochondrial disease: No rest for the weary.Neuromuscul Disord2019
31516925Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery.Data Brief2019
31313283CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.Epilepsia2019
31147226Severity Assessment in CDKL5 Deficiency Disorder.Pediatr Neurol2019
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
30027425Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.J Inherit Metab Dis2018
30392627Development and Validation of Objective and Quantitative Eye Tracking-Based Measures of Autism Risk and Symptom Levels.J Am Acad Child Adolesc Psychiatry2018
29502915Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.Pediatr Clin North Am2018
29274371Orbital rhabdomyosarcoma in a child with Leigh syndrome.J AAPOS2018
27029465Ophthalmological findings in 74 patients with mitochondrial disease.Ophthalmic Genet2017
28303425Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.J Inherit Metab Dis2017
29215644Response to Newman et al.Genet Med2017
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
28863857Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.Mol Genet Metab2017
27442076Authors' response to Finsterer and Zarrouk-Mahjoub's comments.Ophthalmic Genet2017
26918205Electrographic status epilepticus in sleep in an adult with cerebral folate deficiency.Neurol Clin Pract2016
27665271Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.Mol Genet Metab2016
27444792Mitochondrial disease patients' perception of dietary supplements' use.Mol Genet Metab2016
27312955Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services.Pharmacotherapy2016
27312126Solid organ transplantation in primary mitochondrial disease: Proceed with caution.Mol Genet Metab2016
26746121Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial.J Pediatr2016
27015721Development of an Objective Autism Risk Index Using Remote Eye Tracking.J Am Acad Child Adolesc Psychiatry2016
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Collaborators

Amy Goldstein
Children's Hospital of Philadelphia
Co-authored papers 16
Bruce H Cohen
Akron Children's Hospital
Co-authored papers 16
Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 15
Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 13
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 11
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 11
Richard Haas
University of California
Co-authored papers 11
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 10
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 8
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Lucile Packard Children's Hospital and Stanford University
Co-authored papers 8
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Rady Children's Institute for Genomic Medicine
Co-authored papers 7
Robert McFarland
Newcastle University
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Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
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Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
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Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
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John Christodoulou
University of Melbourne, The Royal Children's Hospital
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Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
Jerry Vockley
Co-authored papers 3
Anna C E Hurst
Co-authored papers 3
Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 3
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 3
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Kathleen A Leppig
Kaiser Permanente Washington
Co-authored papers 2
David R Thorburn
Co-authored papers 2
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 2
Patrick Yu-Wai-Man
University of Cambridge
Co-authored papers 2
Heidi Thiese
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Camilo Toro
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