MovDisordV3, Main, Exploration, bibRecord, 002190

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Identifieur interne : 002190 ( Main/Exploration ); précédent : 002189; suivant : 002191

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Auteurs : Wim Vandenberghe [Belgique] ; Koen Van Laere [Belgique] ; Frederik Debruyne [Belgique] ; Christine Van Broeckhoven [Belgique] ; Gert Van Goethem [Belgique]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-01-30.

RBID : ISTEX:F24296D6ED59BE821641F7DF3EAF53157EDF8E6E

English descriptors

KwdEn :
- Amino Acid Substitution, Blepharoptosis (genetics), Carbon Radioisotopes (diagnostic use), DNA Helicases (genetics), Female, Genes, Mitochondrial, Humans, Iodine Radioisotopes (diagnostic use), Male, Middle Aged, Mitochondrial Proteins, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External (genetics), Ophthalmoplegia, Chronic Progressive External (radionuclide imaging), Parkinsonian Disorders (genetics), Parkinsonian Disorders (radionuclide imaging), Pedigree, Point Mutation, Positron-Emission Tomography, Putamen (radionuclide imaging), Tremor (genetics), Tropanes (diagnostic use).
MESH :
- chemical , diagnostic use : Carbon Radioisotopes, Iodine Radioisotopes, Tropanes.
- genetics : Blepharoptosis, DNA Helicases, Ophthalmoplegia, Chronic Progressive External, Parkinsonian Disorders, Tremor.
- radionuclide imaging : Ophthalmoplegia, Chronic Progressive External, Parkinsonian Disorders, Putamen.
- Amino Acid Substitution, Female, Genes, Mitochondrial, Humans, Male, Middle Aged, Mitochondrial Proteins, Mutation, Missense, Pedigree, Point Mutation, Positron-Emission Tomography.

Url:

https://api.istex.fr/document/F24296D6ED59BE821641F7DF3EAF53157EDF8E6E/fulltext/pdf

DOI: 10.1002/mds.22198

Affiliations:

Le document en format XML

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<author><name sortKey="Debruyne, Frederik" sort="Debruyne, Frederik" uniqKey="Debruyne F" first="Frederik" last="Debruyne">Frederik Debruyne</name>
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<author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
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<author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
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<term>DNA Helicases (genetics)</term>
<term>Female</term>
<term>Genes, Mitochondrial</term>
<term>Humans</term>
<term>Iodine Radioisotopes (diagnostic use)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mitochondrial Proteins</term>
<term>Mutation, Missense</term>
<term>Ophthalmoplegia, Chronic Progressive External (genetics)</term>
<term>Ophthalmoplegia, Chronic Progressive External (radionuclide imaging)</term>
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<term>Parkinsonian Disorders (radionuclide imaging)</term>
<term>Pedigree</term>
<term>Point Mutation</term>
<term>Positron-Emission Tomography</term>
<term>Putamen (radionuclide imaging)</term>
<term>Tremor (genetics)</term>
<term>Tropanes (diagnostic use)</term>
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<term>Iodine Radioisotopes</term>
<term>Tropanes</term>
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<term>DNA Helicases</term>
<term>Ophthalmoplegia, Chronic Progressive External</term>
<term>Parkinsonian Disorders</term>
<term>Tremor</term>
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<term>Parkinsonian Disorders</term>
<term>Putamen</term>
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<term>Genes, Mitochondrial</term>
<term>Humans</term>
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<term>Middle Aged</term>
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<name sortKey="Van Goethem, Gert" sort="Van Goethem, Gert" uniqKey="Van Goethem G" first="Gert" last="Van Goethem">Gert Van Goethem</name>
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Movement Disorders (revue)

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Source :

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.