ID
45156
Description
Principal Investigator: Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA MeSH: Parkinson Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000376 We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.
Lien
Mots-clés
Versions (2)
- 04/09/2022 04/09/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits
Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA
Téléchargé le
12 octobre 2022
DOI
Pour une demande vous connecter.
Licence
Creative Commons BY 4.0
Modèle Commentaires :
Ici, vous pouvez faire des commentaires sur le modèle. À partir des bulles de texte, vous pouvez laisser des commentaires spécifiques sur les groupes Item et les Item.
Groupe Item commentaires pour :
Item commentaires pour :
Vous devez être connecté pour pouvoir télécharger des formulaires. Veuillez vous connecter ou s’inscrire gratuitement.
dbGaP phs000376 Whole Exome Sequencing in Familial Parkinson Disease
Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, family ID, father and mother IDs, and sex of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, subject ID, and sample use variable of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, body site, and analyte type of samples obtained from participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
Similar models
Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, family ID, father and mother IDs, and sex of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, subject ID, and sample use variable of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, body site, and analyte type of samples obtained from participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
C2348585 (UMLS CUI [1,2])
C1257890 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,2])
C2350277 (UMLS CUI [1,2])