A novel
Amyotrophic Lateral Sclerosis
/ diagnostic imaging
Cell Cycle Proteins
/ genetics
Female
Frontotemporal Dementia
/ diagnostic imaging
Genetic Testing
Humans
Membrane Transport Proteins
/ genetics
Middle Aged
Mutation
Neurodegenerative Diseases
/ diagnostic imaging
Phenotype
Protein Serine-Threonine Kinases
/ genetics
Exome Sequencing
progressive extrapyramidal movement disorder
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
20
12
2018
accepted:
20
03
2019
entrez:
5
6
2019
pubmed:
5
6
2019
medline:
27
5
2020
Statut:
epublish
Résumé
Mutations in the TANK-binding kinase 1 (
Identifiants
pubmed: 31160356
pii: mcs.a003913
doi: 10.1101/mcs.a003913
pmc: PMC6549548
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
Membrane Transport Proteins
0
OPTN protein, human
0
Protein Serine-Threonine Kinases
EC 2.7.11.1
TBK1 protein, human
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M008525/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0700943
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M023664/1
Pays : United Kingdom
Organisme : Department of Health
ID : BRC149/NS/MH
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : BLAKE/MAR12/815-791
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J009482/1
Pays : United Kingdom
Informations de copyright
© 2019 Lamb et al.; Published by Cold Spring Harbor Laboratory Press.
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