Associated Papers
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Brain : a Journal of Neurology, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Donald A et al.
Molecular Genetics and Metabolism, 2025
Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.
Lerche S et al.
Npj Parkinson's Disease, 2025
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (basel, Switzerland), 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Gleason AM et al.
American Journal of Medical Genetics. Part A, 2023
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease.
Milanowski LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.
Jezela-Stanek A et al.
Journal of Clinical Medicine, 2021
Altered level of plasma exosomes in patients with Gaucher disease.
Tatiana S et al.
European Journal of Medical Genetics, 2020
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Nagel M et al.
Stem Cell Research, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Sheth J et al.
Bmc Medical Genetics, 2019
Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.
Nascimbeni F et al.
Molecular Genetics and Metabolism, 2018
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0