A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.
Identifieur interne : 001783 ( Ncbi/Checkpoint ); précédent : 001782; suivant : 001784A 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 MartinelliSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
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
Affiliations:
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pubmed:16830323Le document en format XML
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Barbiroli</name></author><author><name sortKey="Ambrosetto, Paolo" sort="Ambrosetto, Paolo" uniqKey="Ambrosetto P" first="Paolo" last="Ambrosetto">Paolo Ambrosetto</name></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21037</idno><idno type="RBID">pubmed:16830323</idno><idno type="pmid">16830323</idno><idno type="wicri:Area/PubMed/Corpus">002B54</idno><idno type="wicri:Area/PubMed/Curation">002B54</idno><idno type="wicri:Area/PubMed/Checkpoint">002F01</idno><idno type="wicri:Area/Ncbi/Merge">001783</idno><idno type="wicri:Area/Ncbi/Curation">001783</idno><idno type="wicri:Area/Ncbi/Checkpoint">001783</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A case of fragile X premutation tremor/ataxia syndrome with evidence of 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last="Ambrosetto">Paolo Ambrosetto</name></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term><term>DNA Mutational Analysis</term><term>Essential Tremor (diagnosis)</term><term>Essential Tremor (genetics)</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (diagnosis)</term><term>Fragile X Syndrome (genetics)</term><term>Gait Ataxia (diagnosis)</term><term>Gait Ataxia (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Magnetic Resonance Spectroscopy</term><term>Male</term><term>Middle Aged</term><term>Mitochondrial Diseases (diagnosis)</term><term>Mitochondrial Diseases (genetics)</term><term>Mitochondrial Encephalomyopathies (diagnosis)</term><term>Mitochondrial Encephalomyopathies (genetics)</term><term>Muscle, Skeletal (metabolism)</term><term>Neurologic Examination</term><term>RNA, Messenger (genetics)</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term><term>RNA, Messenger</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term><term>Fragile X Syndrome</term><term>Gait Ataxia</term><term>Mitochondrial Diseases</term><term>Mitochondrial Encephalomyopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Fragile X Syndrome</term><term>Gait Ataxia</term><term>Mitochondrial Diseases</term><term>Mitochondrial Encephalomyopathies</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Magnetic Resonance Spectroscopy</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Trinucleotide Repeats</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><tree><noCountry><name sortKey="Ambrosetto, Paolo" sort="Ambrosetto, Paolo" uniqKey="Ambrosetto P" first="Paolo" last="Ambrosetto">Paolo Ambrosetto</name><name sortKey="Barbiroli, Bruno" sort="Barbiroli, Bruno" uniqKey="Barbiroli B" first="Bruno" last="Barbiroli">Bruno Barbiroli</name><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><name sortKey="Pizza, Fabio" sort="Pizza, Fabio" uniqKey="Pizza F" first="Fabio" last="Pizza">Fabio Pizza</name><name sortKey="Rizzo, Giovanni" sort="Rizzo, Giovanni" uniqKey="Rizzo G" first="Giovanni" last="Rizzo">Giovanni Rizzo</name><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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