Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
Amboni
Marianna
M
Pellecchia
Maria Teresa
MT
Cozzolino
Autilia
A
Picillo
Marina
M
Vitale
Carmine
C
Barone
Paolo
P
Varrone
Andrea
A
Garavaglia
Barbara
B
Gambelli
Simona
S
Federico
Antonio
A
D000328:Adult; D001763:Blepharoptosis / Q000209:etiology*; D002250:Carbon Radioisotopes; D002531:Cerebellum / Q000503:physiopathology; D002675:Child, Preschool; D003342:Corpus Striatum / Q000000981:diagnostic imaging; D006579:Heterozygote; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D007457:Iodine Radioisotopes; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure; D018908:Muscle Weakness / Q000209:etiology*; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011877:Radionuclide Imaging; D017384:Sequence Deletion; D013132:Spinocerebellar Degenerations / Q000209:etiology*; D014326:Tropanes; D044767:Ubiquitin-Protein Ligases / Q000172:deficiency / Q000235:genetics*
D002250:Carbon Radioisotopes; D007457:Iodine Radioisotopes; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein