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Research ArticlePEDIATRIC NEUROIMAGING

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

Cesar A.P.F. Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T. Peterson, Rebecca Ganetzky, Antonio Napolitano, Francesco Grassi, Ibrahim George-Sankoh, Harun Yildiz, Colleen Muraresku, Marni J. Falk, Diego Martinelli, Daniela Longo, Adeline Vanderver, Carlo Gandolfo, Russell P. Saneto, Amy Goldstein and Arastoo Vossough
American Journal of Neuroradiology May 2025, DOI: https://doi.org/10.3174/ajnr.A8670
Cesar A.P.F. Alves
aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
bDivision of Neuroradiology, Department of Radiology (C.A.P.F.A.), The Boston Children’s Hospital-Harvard Medical School, Boston, Massachusetts
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  • ORCID record for Cesar A.P.F. Alves
Maria Camilla Rossi-Espagnet
mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Francisco Perez
dDivision of Neuroradiology, Department of Radiology (F.P.), Texas Children’s Hospital, Houston, Texas
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Amirreza Manteghinejad
aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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James T. Peterson
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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Rebecca Ganetzky
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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Antonio Napolitano
fMedical Physics Unit (A.N., F.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Francesco Grassi
fMedical Physics Unit (A.N., F.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Ibrahim George-Sankoh
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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Harun Yildiz
gDepartment of Radiology (H.Y.), Bursa Dortcelik Children’s Hospital, Turkey
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Colleen Muraresku
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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Marni J. Falk
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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Diego Martinelli
hDivision of Metabolism (D.M.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Daniela Longo
mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Adeline Vanderver
iDivision of Neurology (A. Vanderver), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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Carlo Gandolfo
cFunctional and Interventional Neuroimaging Unit (C.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
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Russell P. Saneto
kDivision of Pediatric Neurology (R.P.S.), Seattle Children’s Hospital, University of Washington, Seattle, Washington.
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Amy Goldstein
eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
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Arastoo Vossough
aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
jDepartments of Pediatrics and Radiology (A. Vossough), Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania
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Cite this article
Cesar A.P.F. Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T. Peterson, Rebecca Ganetzky, Antonio Napolitano, Francesco Grassi, Ibrahim George-Sankoh, Harun Yildiz, Colleen Muraresku, Marni J. Falk, Diego Martinelli, Daniela Longo, Adeline Vanderver, Carlo Gandolfo, Russell P. Saneto, Amy Goldstein, Arastoo Vossough
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
American Journal of Neuroradiology May 2025, DOI: 10.3174/ajnr.A8670

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Neuroimaging Delineation and Progression of SLSMD
Cesar A.P.F. Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T. Peterson, Rebecca Ganetzky, Antonio Napolitano, Francesco Grassi, Ibrahim George-Sankoh, Harun Yildiz, Colleen Muraresku, Marni J. Falk, Diego Martinelli, Daniela Longo, Adeline Vanderver, Carlo Gandolfo, Russell P. Saneto, Amy Goldstein, Arastoo Vossough
American Journal of Neuroradiology May 2025, DOI: 10.3174/ajnr.A8670
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