MovDisordV3, Main, Exploration, bibRecord, 001451

Progressive supranuclear palsy‐like phenotype caused by progranulin p.Thr272fs mutation

Identifieur interne : 001451 ( Main/Exploration ); précédent : 001450; suivant : 001452

Progressive supranuclear palsy‐like phenotype caused by progranulin p.Thr272fs mutation

Auteurs : Lucio Tremolizzo [Italie] ; Francesca Bertola [Italie] ; Giorgio Casati [Italie] ; Alberto Piperno [Italie] ; Carlo Ferrarese [Italie] ; Ildebrando Appollonio [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2011-08-15.

RBID : ISTEX:971747B731393D9E49A11ABF2990C49D3E4A061A

Descripteurs français

Pascal (Inist)
- Mutation, Ophtalmoplégie supranucléaire, Pathologie du système nerveux, Phénotype.

English descriptors

KwdEn :
- Aged, Genetic Association Studies, Humans, Intercellular Signaling Peptides and Proteins (genetics), Magnetic Resonance Imaging, Male, Mutation, Mutation (genetics), Nervous system diseases, Phenotype, Phenylalanine (genetics), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Supranuclear ophthalmoplegia, Threonine (genetics).
MESH :
- chemical , genetics : Intercellular Signaling Peptides and Proteins, Phenylalanine, Threonine.
- diagnosis : Supranuclear Palsy, Progressive.
- genetics : Mutation, Supranuclear Palsy, Progressive.
- Aged, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Phenotype.

Url:

https://api.istex.fr/document/971747B731393D9E49A11ABF2990C49D3E4A061A/fulltext/pdf

DOI: 10.1002/mds.23749

Affiliations:

Italie

Le document en format XML

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Movement Disorders (revue)

Progressive supranuclear palsy‐like phenotype caused by progranulin p.Thr272fs mutation

Progressive supranuclear palsy‐like phenotype caused by progranulin p.Thr272fs mutation

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.