MovDisordV3, PubMed, Curation, bibRecord, 002B54

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

Identifieur interne : 002B54 ( PubMed/Curation ); précédent : 002B53; suivant : 002B55

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

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

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.

RBID : pubmed:16830323

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.

DOI: 10.1002/mds.21037
PubMed: 16830323

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Le document en format XML

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<author><name sortKey="Rizzo, Giovanni" sort="Rizzo, Giovanni" uniqKey="Rizzo G" first="Giovanni" last="Rizzo">Giovanni Rizzo</name>
</author>
<author><name sortKey="Pizza, Fabio" sort="Pizza, Fabio" uniqKey="Pizza F" first="Fabio" last="Pizza">Fabio Pizza</name>
</author>
<author><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name>
</author>
<author><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name>
</author>
<author><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name>
</author>
<author><name sortKey="Barbiroli, Bruno" sort="Barbiroli, Bruno" uniqKey="Barbiroli B" first="Bruno" last="Barbiroli">Bruno Barbiroli</name>
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<author><name sortKey="Ambrosetto, Paolo" sort="Ambrosetto, Paolo" uniqKey="Ambrosetto P" first="Paolo" last="Ambrosetto">Paolo Ambrosetto</name>
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<author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</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>Fragile X Syndrome (genetics)</term>
<term>Gait Ataxia (diagnosis)</term>
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<term>Mitochondrial Encephalomyopathies (diagnosis)</term>
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<term>Neurologic Examination</term>
<term>RNA, Messenger (genetics)</term>
<term>Trinucleotide Repeats</term>
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<term>Fragile X Syndrome</term>
<term>Gait Ataxia</term>
<term>Mitochondrial Diseases</term>
<term>Mitochondrial Encephalomyopathies</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.</ArticleTitle>
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<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
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	Movement Disorders (revue)
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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...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki