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A case of probable Parkinson's disease after SARS-CoV-2 infection

Lancet neurology, 2020-10, Vol.19 (10), p.804-805

2020

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The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

Movement disorders, 2021-04, Vol.36 (4), p.1005-1010

2021

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Candida albicans Hap43 Domains Are Required under Iron Starvation but Not Excess

Frontiers in microbiology, 2017-12, Vol.8, p.2388-2388

2017

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Biphasic zinc compartmentalisation in a human fungal pathogen

PLoS pathogens, 2018-05, Vol.14 (5), p.e1007013

2018

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GBA1 -Associated Parkinson's Disease Is a Distinct Entity

International journal of molecular sciences, 2024-06, Vol.25 (13), p.7102

2024

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Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3945

2023

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Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing

Frontiers in genetics, 2023-02, Vol.14, p.1081424-1081424

2023

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HAE patient self-sampling for biomarker establishment

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-399, Article 399

2021

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Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Annals of medicine (Helsinki), 2021-01, Vol.53 (1), p.1787-1796

2021

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Metals in fungal virulence

FEMS microbiology reviews, 2018-01, Vol.42 (1)

2018

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Npj genomic medicine, 2020-10, Vol.5 (1), p.44-44, Article 44

2020

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Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency

Advances in laboratory medicine, 2024-06, Vol.5 (2), p.205-212

2024

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Perfiles clínicos, bioquímicos y moleculares de tres neonatos de Sri Lanka con déficit de piruvato carboxilasa

Advances in laboratory medicine, 2024-06, Vol.5 (2), p.213-220

2024

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Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

Respiratory medicine case reports, 2022, Vol.40, p.101750, Article 101750

2022

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Rapid Large-Scale COVID-19 Testing during Shortages

Diagnostics (Basel), 2020-07, Vol.10 (7), p.464

2020

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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

Diagnostics (Basel), 2023-08, Vol.13 (17), p.2812

2023

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Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

International journal of clinical practice (Esher), 2021-09, Vol.75 (9), p.e14422-n/a

2021

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Two-tier screening approach for the identification of hereditary angioedema type 1 & 2 patients

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S43-S44

2020

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Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S34-S34

2022

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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Movement disorders, 2021-04, Vol.36 (4), p.1029-1031

2021

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Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants

Parkinsonism & related disorders, 2023-02, Vol.107, p.105248-105248, Article 105248

2023

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Role of micronutrients during fungal infections

Skrahina, Volha

2018

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Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA

Journal of Nepal Paediatric Society, 2022-12, Vol.42 (2), p.80-82

2022

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A case of probable Parkinson's disease after SARS-CoV-2 infection

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

Candida albicans Hap43 Domains Are Required under Iron Starvation but Not Excess

Biphasic zinc compartmentalisation in a human fungal pathogen

GBA1 -Associated Parkinson's Disease Is a Distinct Entity

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing

HAE patient self-sampling for biomarker establishment

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Metals in fungal virulence

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency

Perfiles clínicos, bioquímicos y moleculares de tres neonatos de Sri Lanka con déficit de piruvato carboxilasa

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

Rapid Large-Scale COVID-19 Testing during Shortages

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

LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

Two-tier screening approach for the identification of hereditary angioedema type 1 & 2 patients

Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants

Role of micronutrients during fungal infections

Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA

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