Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability(699 views) Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
Keywords: Atp13a2, Fbxo7, Movement Disorders, Park15, Parkinsonism, Adenosine Triphosphatase, Cadmium, Levodopa, Manganese, Nickel, Selenium, Adult, Article, Brain Atrophy, Brain Cortex Atrophy, Case Report, Clinical Feature, Cognitive Defect, Enzyme Activity, Gene Mutation, Human, Italy, Loss Of Function Mutation, Mini Mental State Examination, Missense Mutation, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Phenotypic Variation, Priority Journal, Pyramidal Sign, Single Photon Emission Computer Tomography, Transcranial Magnetic Stimulation, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Dna Mutational Analysis, F-Box Proteins, Female, Recessive, Heterozygote, Homozygote, Molecular Sequence Data, Mutant Proteins, Parkinsonian Disorders, Pedigree, Proton-Translocating Atpases, Sequence Homology, Emission-Computed, Single-Photon, Brain Diagnostic Imaging Pathology
, F-Box Proteins Genetics
, Movement Disorders Diagnostic Imaging Genetics Pathology
, Mutant Proteins Chemistry Genetics
, Parkinsonian Disorders Diagnostic Imaging Genetics Pathology
, Proton-Translocating Atpases Chemistry Genetics
Affiliations: *** IBB - CNR ***
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, Rotterdam 3000 CA, Netherlands
Salvatore Maugeri Foundation, IRCCS-Medical Center of Telese Terme, Telese Terme, Italy
Department of Pediatrics, Second University of Naples, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
References: Not available.
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G * The relationship between cerebral vascular disease and parkinsonism: The VADO study(917 views) Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780. Impact Factor:3.274 ViewExport to BibTeXExport to EndNote