Laurie A Robak
Overview
Explore the profile of Laurie A Robak including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
15
Citations
643
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Chew E, Liu Z, Li Z, Chung S, Lian M, Tandiono M, et al.
Nat Aging
. 2024 Nov;
5(2):205-218.
PMID: 39572736
Parkinson's disease (PD) is an incurable, progressive and common movement disorder that is increasing in incidence globally because of population aging. We hypothesized that the landscape of rare, protein-altering variants...
2.
Park J, Choi T, Kim T, Lee Y, Wellalage Don D, George-Abraham J, et al.
J Genet Genomics
. 2024 Oct;
51(12):1389-1403.
PMID: 39368701
Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored...
3.
Ye H, Robak L, Yu M, Cykowski M, Shulman J
Annu Rev Pathol
. 2022 Sep;
18:95-121.
PMID: 36100231
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous, resisting distillation to a single, cohesive disorder. Instead, each affected individual develops a virtually unique form of Parkinson's syndrome. Clinical manifestations...
4.
Thomas A, Link N, Robak L, Demmler-Harrison G, Pao E, Squire A, et al.
Ann Clin Transl Neurol
. 2022 Jul;
9(8):1276-1288.
PMID: 35871307
Objective: This study delineates the clinical and molecular spectrum of ANKLE2-related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. Methods: We identified 12...
5.
Hill E, Robak L, Al-Ouran R, Deger J, Fong J, Vandeventer P, et al.
Neurol Genet
. 2022 Jun;
8(4):e200002.
PMID: 35747619
Background And Objectives: Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during...
6.
Robak L, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, et al.
Neurol Genet
. 2020 Aug;
6(5):e498.
PMID: 32802956
Objective: To determine how single nucleotide variants (SNVs) and copy number variants (CNVs) contribute to molecular diagnosis in familial Parkinson disease (PD), we integrated exome sequencing (ES) and genome-wide array-based...
7.
Chen C, Crutcher E, Gill H, Nelson T, Robak L, Jongmans M, et al.
Hum Mutat
. 2020 Jul;
41(10):1738-1744.
PMID: 32643838
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. CHDSKM is caused by germline...
8.
Assia Batzir N, Bhagwat P, Eble T, Liu P, Eng C, Elsea S, et al.
Cold Spring Harb Mol Case Stud
. 2019 Mar;
5(3).
PMID: 30850373
encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of have been...
9.
Wangler M, Assia Batzir N, Robak L, Koenig M, Bacino C, Scaglia F, et al.
Brain
. 2018 Mar;
141(4):e28.
PMID: 29529134
No abstract available.
10.
Robak L, Jansen I, van Rooij J, Uitterlinden A, Kraaij R, Jankovic J, et al.
Brain
. 2017 Nov;
140(12):3191-3203.
PMID: 29140481
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage...