The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.

Brain / diagnostic imaging Child Child, Preschool DNA Polymerase gamma / genetics Electroencephalography Female Humans Magnetic Resonance Imaging Male Mitochondrial Diseases / diagnostic imaging Neuroimaging / methods Retrospective Studies Seizures / diagnostic imaging

Journal

AJNR. American journal of neuroradiology
ISSN: 1936-959X
Titre abrégé: AJNR Am J Neuroradiol
Pays: United States
ID NLM: 8003708

Informations de publication

Date de publication:
05 2020
Historique:
received: 18 12 2019
accepted: 27 02 2020
pubmed: 10 5 2020
medline: 11 11 2020
entrez: 9 5 2020
Statut: ppublish

Résumé

Pathogenic variants in the

Identifiants

DOI: 10.3174/ajnr.A6514 PMID: 32381541 PMC: PMC7228159
pubmed: 32381541
pii: ajnr.A6514
doi: 10.3174/ajnr.A6514
pmc: PMC7228159
doi:

Substances chimiques

DNA Polymerase gamma EC 2.7.7.7
POLG protein, human EC 2.7.7.7

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

917-922

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom

Informations de copyright

© 2020 by American Journal of Neuroradiology.

Références

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Auteurs

F G Gonçalves (FG)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.) goncalves.neuroradio@gmail.com.
ORCID: 0000-0002-8889-9879

B Hill (B)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
ORCID: 0000-0002-8433-247X

Y Guo (Y)

Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.).
ORCID: 0000-0002-0600-493X

C C Muraresku (CC)

Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
ORCID: 0000-0003-0045-1664

E McCormick (E)

Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
ORCID: 0000-0002-5478-8046

C A P F Alves (CAPF)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
ORCID: 0000-0001-5877-9086

S R Teixeira (SR)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
ORCID: 0000-0001-5845-058X

J S Martin-Saavedra (JS)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
ORCID: 0000-0002-4197-5424

Z Zolkipli-Cunningham (Z)

Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.).
ORCID: 0000-0002-0743-8879

M J Falk (MJ)

Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.).
ORCID: 0000-0002-1723-6728

A Vossough (A)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
Radiology (A.V.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
ORCID: 0000-0003-1346-427X

A Goldstein (A)

Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.).
ORCID: 0000-0001-6593-5905

G Zuccoli (G)

From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).
The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) (G.Z.), Children's Hospital of Pittsburgh of UPMC.
ORCID: 0000-0001-9734-8035

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › DNA Polymerase gamma › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électroencéphalographie › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Techniques d'investigation › Neuroimagerie › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › The Perirolandic Sign: A Unique Imaging...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › The Perirolandic Sign: A Unique Imaging...