Publications by authors named "Amy C Goldstein"

11Publications

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Am J Med Genet A 2020 02 11;182(2):365-373. Epub 2019 Dec 11.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183758PMC
February 2020

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506718PMC
May 2019

Neuroimaging of Mitochondrial Cytopathies.

Top Magn Reson Imaging 2018 Aug;27(4):219-240

Department of Radiology, University of Pittsburgh School of Medicine, Director of Pediatric Neuroradiology, Children Hospital of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1097/RMR.0000000000000173DOI Listing
August 2018

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

Mol Genet Metab Rep 2015 Jun;3:43-46

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435574PMC
June 2015

Autism and inborn errors of metabolism: how much is enough?

Dev Med Child Neurol 2015 Sep 15;57(9):788-9. Epub 2015 Apr 15.

Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1111/dmcn.12771DOI Listing
September 2015

Mitochondrial disease in childhood: nuclear encoded.

Neurotherapeutics 2013 Apr;10(2):212-26

Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.

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http://link.springer.com/10.1007/s13311-013-0185-6
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http://dx.doi.org/10.1007/s13311-013-0185-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625393PMC
April 2013