PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum

Human Mutation

Volumn 29, Issue 4, 2008, Pages 565-

  Marongiu, Roberta ^a,b   Ferraris, Alessandro ^a,b   Ialongo, Tàmara ^c   Michiorri, Silvia ^a,b   Soleti, Francesco ^c   Ferrari, Francesca ^a,b   Elia, Antonio E ^d   Ghezzi, Daniele ^d   Albanese, Alberto ^d,e   Altavista, Maria Concetta ^f   Antonini, Angelo ^g   Barone, Paolo ^h   Brusa, Livia ⁱ   Cortelli, Pietro ^j   Martinelli, Paolo ^j   Pellecchia, Maria Teresa ^h   Pezzoli, Gianni ^g   Scaglione, Cesa ^j   Stanzione, Paolo ^k,l   Tinazzi, Michele ^m   Zecchinelli, Anna ^g   Zeviani, Massimo ^d   Cassetta, Emanuele ⁿ   Garavaglia, Barbara ^d   Dallapiccola, Bruno ^a,b   Bentivoglio, Anna Rita ^c   Valente, Enza Maria ^a,o   Avarello, T ^p   Barzaghi, C ^d   Conca, E ^d   Bonizzato, A ^m   Bonuccelli, U ^q   Brancati, F ^r   Scarciolla, O ^r   Stuppia, L ^r   Montagna, G ^a   Goldwurm, S ^g   Canesi, M ^g   Mariani, C ^g   Meucci, N ^g   Sacilotto, G ^g   Tesei, S ^g   Fasano, A ^c   Guidubaldi, A ^c   Marelli, C ^d   Nordera, G ^s   Scaravilli, T ^t   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

^f SAN FILIPPO NERI HOSPITAL   (Italy)

^g PARKINSON INSTITUTE   (Italy)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ S EUGENIO HOSPITAL   (Italy)

^j UNIVERSITY OF BOLOGNA   (Italy)

^k IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^l UNIVERSITY OF ROME TOR VERGATA   (Italy)

^m UNIVERSITY OF VERONA   (Italy)

ⁿ Fatebenefratelli Association for Research   (Italy)

^o UNIVERSITY OF MESSINA   (Italy)

^p Villa Sofia Hospital   (Italy)

^q UNIVERSITY OF PISA   (Italy)

^r UNIVERSITY OF CHIETI   (Italy)

^s Villa Margherita   (Italy)

^t UNIVERSITY OF PADOVA   (Italy)

more..

Author keywords

Autosomal recessive parkinsonism; Heterozygous rare variants; Parkinson disease; PINK1

Indexed keywords

DJ 1 PROTEIN; PARKIN; PINK1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; PROTEIN KINASE; PTEN INDUCED PUTATIVE KINASE; PTEN-INDUCED PUTATIVE KINASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; META ANALYSIS (TOPIC); MOTOR DYSFUNCTION; ONSET AGE; PARKINSONISM; PATIENT RISK; PHENOTYPIC VARIATION; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RISK ASSESSMENT; RISK FACTOR; WILD TYPE; AMINO ACID SEQUENCE; CASE CONTROL STUDY; CLINICAL TRIAL; ENZYMOLOGY; GENETICS; ITALY; MIDDLE AGED; MOLECULAR GENETICS; MULTICENTER STUDY; PARKINSON DISEASE; PHENOTYPE; RECESSIVE GENE; SEQUENCE HOMOLOGY;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PARKINSON DISEASE; PHENOTYPE; PROTEIN KINASES; RETROSPECTIVE STUDIES; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS);

EID: 42049102405     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20719     Document Type: Article

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