Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to

Humans Male Middle Aged Frontotemporal Dementia / genetics Amyotrophic Lateral Sclerosis / genetics C9orf72 Protein / genetics Proteins / genetics DNA Repeat Expansion / genetics Pick Disease of the Brain / genetics

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
14 11 2023
Historique:
received: 15 05 2023
accepted: 19 07 2023
pmc-release: 14 11 2024
medline: 15 11 2023
pubmed: 31 8 2023
entrez: 30 8 2023
Statut: ppublish

Résumé

Chromosome 9 open reading frame 72 (

Identifiants

DOI: 10.1212/WNL.0000000000207832 PMID: 37648532 PMC: PMC10662987
pubmed: 37648532
pii: WNL.0000000000207832
doi: 10.1212/WNL.0000000000207832
pmc: PMC10662987
doi:

Substances chimiques

C9orf72 Protein 0
Proteins 0
C9orf72 protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2046-e2050

Informations de copyright

© 2023 American Academy of Neurology.

Références

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Brain. 2011 Sep;134(Pt 9):2456-77
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Neurocase. 2018 Feb;24(1):68-71
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Brain. 2020 Jun 1;143(6):1632-1650
pubmed: 32129844
Neurology. 2021 Nov 9;97(19):908-909
pubmed: 34504027
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Sci Rep. 2017 May 18;7(1):2116
pubmed: 28522837
Psychiatry Res. 2006 Mar 31;146(2):191-7
pubmed: 16510269
Brain. 2012 Mar;135(Pt 3):765-83
pubmed: 22366793
Handb Clin Neurol. 2015;129:573-87
pubmed: 25726291
Handb Clin Neurol. 2022;187:69-87
pubmed: 35964993
Neurocase. 2021 Apr;27(2):212-222
pubmed: 33904372
Neurol Genet. 2021 Mar 12;7(2):e575
pubmed: 33977144
Cortex. 2021 Apr;137:255-270
pubmed: 33647851

Auteurs

Yoon Seob Kim (YS)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
ORCID: 0000-0002-6363-1999

Young-Eun Kim (YE)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.

Yun-Hoon Choung (YH)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.

Hwajung Kim (H)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.

Hee Jin Kim (HJ)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
ORCID: 0000-0002-3186-9441

Na-Yeon Jung (NY)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
ORCID: 0000-0002-8265-9508

Sun Min Lee (SM)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
ORCID: 0000-0001-5917-015X

Eun-Joo Kim (EJ)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.

So Young Moon (SY)

From the Departments of Neurology (Y.S.K., H.K., S.M.L., S.Y.M.) and Otolaryngology (Y.-H.C.), Ajou University School of Medicine, Suwon; Department of Laboratory Medicine (Y.-E.K.), Hanyang University College of Medicine, Seoul; Department of Neurology (H.J.K.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology (N.-Y.J.), Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology; and Department of Neurology (E.-J.K.), Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea. symoon.bv@gmail.com.
ORCID: 0000-0002-1025-1968

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Protéine C9orf72 › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Pearls & Oy-sters: Familial Verbal Auditory...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Démence de Pick › Pearls & Oy-sters: Familial Verbal Auditory...