Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK‐2
Identifieur interne : 002413 ( Main/Curation ); précédent : 002412; suivant : 002414Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK‐2
Auteurs : Marianna Amboni [Italie] ; Maria Teresa Pellecchia [Italie] ; Autilia Cozzolino [Italie] ; Marina Picillo [Italie] ; Carmine Vitale [Italie] ; Paolo Barone [Italie] ; Andrea Varrone [Italie] ; Barbara Garavaglia [Italie] ; Simona Gambelli [Italie] ; Antonio Federico [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-01-30.
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.
Url:
DOI: 10.1002/mds.22342
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ISTEX:085B7D0855EBCFCDD0999D05E7274E2036AD4E87Le document en format XML
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<author><name sortKey="Picillo, Marina" sort="Picillo, Marina" uniqKey="Picillo M" first="Marina" last="Picillo">Marina Picillo</name>
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<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>
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<term>Tropanes (diagnostic use)</term>
<term>Ubiquitin-Protein Ligases (deficiency)</term>
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<term>Iodine Radioisotopes</term>
<term>Tropanes</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinsonian Disorders</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Blepharoptosis</term>
<term>Hypokinesia</term>
<term>Muscle Weakness</term>
<term>Spinocerebellar Degenerations</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Ubiquitin-Protein Ligases</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Mitochondria, Muscle</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebellum</term>
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<keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Corpus Striatum</term>
<term>Parkinsonian Disorders</term>
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<term>Child, Preschool</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense</term>
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