Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
Identifieur interne : 001F16 ( PubMed/Checkpoint ); précédent : 001F15; suivant : 001F17Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
Auteurs : Marianna Amboni ; Maria Teresa Pellecchia ; Autilia Cozzolino ; Marina Picillo ; Carmine Vitale ; Paolo Barone ; Andrea Varrone ; Barbara Garavaglia ; Simona Gambelli ; Antonio FedericoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Blepharoptosis (etiology), Carbon Radioisotopes (diagnostic use), Cerebellum (physiopathology), Child, Preschool, Corpus Striatum (radionuclide imaging), Heterozygote, Humans, Hypokinesia (etiology), Iodine Radioisotopes (diagnostic use), Male, Mitochondria, Muscle (metabolism), Mitochondria, Muscle (ultrastructure), Muscle Weakness (etiology), Mutation, Missense, Parkinsonian Disorders (complications), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (radionuclide imaging), Sequence Deletion, Spinocerebellar Degenerations (etiology), Tropanes (diagnostic use), Ubiquitin-Protein Ligases (deficiency), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , deficiency : Ubiquitin-Protein Ligases.
- chemical , diagnostic use : Carbon Radioisotopes, Iodine Radioisotopes, Tropanes.
- complications : Parkinsonian Disorders.
- diagnosis : Parkinsonian Disorders.
- etiology : Blepharoptosis, Hypokinesia, Muscle Weakness, Spinocerebellar Degenerations.
- genetics : Parkinsonian Disorders, Ubiquitin-Protein Ligases.
- metabolism : Mitochondria, Muscle.
- physiopathology : Cerebellum.
- radionuclide imaging : Corpus Striatum, Parkinsonian Disorders.
- ultrastructure : Mitochondria, Muscle.
- Adult, Child, Preschool, Heterozygote, Humans, Male, Mutation, Missense, Sequence Deletion.
DOI: 10.1002/mds.22342
PubMed: 18973255
Affiliations:
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pubmed:18973255Le document en format XML
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Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Gambelli, Simona" sort="Gambelli, Simona" uniqKey="Gambelli S" first="Simona" last="Gambelli">Simona Gambelli</name></author><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22342</idno><idno type="RBID">pubmed:18973255</idno><idno type="pmid">18973255</idno><idno type="wicri:Area/PubMed/Corpus">001F44</idno><idno 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first="Carmine" last="Vitale">Carmine Vitale</name></author><author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Gambelli, Simona" sort="Gambelli, Simona" uniqKey="Gambelli S" first="Simona" last="Gambelli">Simona Gambelli</name></author><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Blepharoptosis (etiology)</term><term>Carbon Radioisotopes (diagnostic use)</term><term>Cerebellum (physiopathology)</term><term>Child, Preschool</term><term>Corpus Striatum (radionuclide imaging)</term><term>Heterozygote</term><term>Humans</term><term>Hypokinesia (etiology)</term><term>Iodine Radioisotopes (diagnostic use)</term><term>Male</term><term>Mitochondria, Muscle (metabolism)</term><term>Mitochondria, Muscle (ultrastructure)</term><term>Muscle Weakness (etiology)</term><term>Mutation, Missense</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (radionuclide imaging)</term><term>Sequence Deletion</term><term>Spinocerebellar Degenerations (etiology)</term><term>Tropanes (diagnostic use)</term><term>Ubiquitin-Protein Ligases (deficiency)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Carbon Radioisotopes</term><term>Iodine Radioisotopes</term><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Blepharoptosis</term><term>Hypokinesia</term><term>Muscle Weakness</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Mitochondria, Muscle</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebellum</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Corpus Striatum</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Mitochondria, Muscle</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child, Preschool</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Mutation, Missense</term><term>Sequence Deletion</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18973255</PMID><DateCreated><Year>2009</Year><Month>02</Month><Day>02</Day></DateCreated><DateCompleted><Year>2009</Year><Month>06</Month><Day>08</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>2</Issue><PubDate><Year>2009</Year><Month>Jan</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.</ArticleTitle><Pagination><MedlinePgn>303-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22342</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Amboni</LastName><ForeName>Marianna</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Pellecchia</LastName><ForeName>Maria Teresa</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Cozzolino</LastName><ForeName>Autilia</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Picillo</LastName><ForeName>Marina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Vitale</LastName><ForeName>Carmine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Barone</LastName><ForeName>Paolo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Varrone</LastName><ForeName>Andrea</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Garavaglia</LastName><ForeName>Barbara</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Gambelli</LastName><ForeName>Simona</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Federico</LastName><ForeName>Antonio</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016422">Letter</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002250">Carbon Radioisotopes</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007457">Iodine Radioisotopes</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014326">Tropanes</NameOfSubstance></Chemical><Chemical><RegistryNumber>155797-99-2</RegistryNumber><NameOfSubstance UI="C087552">2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001763">Blepharoptosis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002250">Carbon Radioisotopes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003342">Corpus Striatum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018476">Hypokinesia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007457">Iodine Radioisotopes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008931">Mitochondria, Muscle</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000648">ultrastructure</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018908">Muscle Weakness</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017384">Sequence Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013132">Spinocerebellar Degenerations</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014326">Tropanes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000172">deficiency</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>11</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>6</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>11</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22342</ArticleId><ArticleId IdType="pubmed">18973255</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name><name sortKey="Cozzolino, Autilia" sort="Cozzolino, Autilia" uniqKey="Cozzolino A" first="Autilia" last="Cozzolino">Autilia Cozzolino</name><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name><name sortKey="Gambelli, Simona" sort="Gambelli, Simona" uniqKey="Gambelli S" first="Simona" last="Gambelli">Simona Gambelli</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Pellecchia, Maria Teresa" sort="Pellecchia, Maria Teresa" uniqKey="Pellecchia M" first="Maria Teresa" last="Pellecchia">Maria Teresa Pellecchia</name><name sortKey="Picillo, Marina" sort="Picillo, Marina" uniqKey="Picillo M" first="Marina" last="Picillo">Marina Picillo</name><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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