MovDisordV3, Main, Exploration, bibRecord, 003611

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

Identifieur interne : 003611 ( Main/Exploration ); précédent : 003610; suivant : 003612

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

Auteurs : Giovanni Rizzo [Italie] ; Fabio Pizza [Italie] ; Cesa Scaglione [Italie] ; Caterina Tonon [Italie] ; Raffaele Lodi [Italie] ; Bruno Barbiroli [Italie] ; Paolo Ambrosetto [Italie] ; Paolo Martinelli [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-09.

RBID : ISTEX:E59B6EF1CD891A9BCC7041FA6D42A49174367CF3

English descriptors

KwdEn :
- Brain (pathology), DNA Mutational Analysis, Essential Tremor (diagnosis), Essential Tremor (genetics), Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Gait Ataxia (diagnosis), Gait Ataxia (genetics), Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Middle Aged, Mitochondrial Diseases (diagnosis), Mitochondrial Diseases (genetics), Mitochondrial Encephalomyopathies (diagnosis), Mitochondrial Encephalomyopathies (genetics), Muscle, Skeletal (metabolism), Neurologic Examination, RNA, Messenger (genetics), Trinucleotide Repeats.
MESH :
- chemical , genetics : Fragile X Mental Retardation Protein, RNA, Messenger.
- diagnosis : Essential Tremor, Fragile X Syndrome, Gait Ataxia, Mitochondrial Diseases, Mitochondrial Encephalomyopathies.
- genetics : Essential Tremor, Fragile X Syndrome, Gait Ataxia, Mitochondrial Diseases, Mitochondrial Encephalomyopathies.
- metabolism : Muscle, Skeletal.
- pathology : Brain.
- DNA Mutational Analysis, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Middle Aged, Neurologic Examination, Trinucleotide Repeats.

Url:

https://api.istex.fr/document/E59B6EF1CD891A9BCC7041FA6D42A49174367CF3/fulltext/pdf

DOI: 10.1002/mds.21037

Affiliations:

Italie

Le document en format XML

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<author><name sortKey="Pizza, Fabio" sort="Pizza, Fabio" uniqKey="Pizza F" first="Fabio" last="Pizza">Fabio Pizza</name>
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<author><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name>
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<author><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name>
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<author><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name>
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<author><name sortKey="Barbiroli, Bruno" sort="Barbiroli, Bruno" uniqKey="Barbiroli B" first="Bruno" last="Barbiroli">Bruno Barbiroli</name>
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<term>Fragile X Mental Retardation Protein (genetics)</term>
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<term>Mitochondrial Encephalomyopathies</term>
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Movement Disorders (revue)

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

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.