Clinical Neurogenetics
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- 2024
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Mark
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
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- Contribution to journal › Article
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The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
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- Contribution to journal › Article
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Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
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- Contribution to journal › Article
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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
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- Contribution to journal › Article
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Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
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- Contribution to journal › Article
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Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
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- Contribution to journal › Article
- 2023
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Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
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- Contribution to journal › Article
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Varicella-zoster virus vasculopathy in a patient with multiple sclerosis receiving natalizumab
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- Contribution to journal › Article
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Mark
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
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- Contribution to journal › Article
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Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
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- Contribution to journal › Article
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Mark
Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia
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- Contribution to journal › Scientific review
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Sag-rad : A Method for Single-Cell Population Genomics of Unicellular Eukaryotes
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- Contribution to journal › Article
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Clinical and genetic studies of patients and families with ataxia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
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- Contribution to journal › Article
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Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
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- Contribution to journal › Article
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Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
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- Contribution to journal › Article
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Mark
Whole exome sequencing of familial, combined or complex dystonia
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- Contribution to journal › Published meeting abstract
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A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
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- Contribution to journal › Published meeting abstract
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Patient perspective in hereditary ataxia
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- Contribution to journal › Published meeting abstract
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Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
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- Contribution to journal › Published meeting abstract
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Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
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- Contribution to journal › Article
- 2022
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Mark
A relatively common hypomorphic variant in WARS2 causes monogenic disease
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- Contribution to journal › Debate/Note/Editorial
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Mark
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
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- Contribution to journal › Article
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Mark
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors
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- Contribution to journal › Article
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Mark
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
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- Contribution to journal › Article
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Mark
Dairy Intake and Parkinson's Disease : A Mendelian Randomization Study
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- Contribution to journal › Article
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Mark
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
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- Contribution to journal › Article
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Serum Neurofilament Light Chain as a Marker of Progression in Parkinson's Disease : Long-Term Observation and Implications of Clinical Subtypes
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- Contribution to journal › Article
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Mark
Insights on Genetic and Environmental Factors in Parkinson's Disease from a Regional Swedish Case-Control Cohort
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- Contribution to journal › Article
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Mark
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
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- Contribution to journal › Article
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Mark
Patients’ Perspective in Hereditary Ataxia
2022) In Cerebellum(
- Contribution to journal › Article
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Mark
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
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- Contribution to journal › Article
- 2021
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Mark
Clinical classification systems and long-term outcome in mid- and late-stage Parkinson’s disease
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- Contribution to journal › Article
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Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
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- Contribution to journal › Article
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Mark
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes
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- Contribution to journal › Letter
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Mark
Prognostic subtypes in Parkinson’s disease and related disorders. Clinical, genetical, and biochemical markers for long-term social, motor, and cognitive development.
2021) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Replication of a Novel Parkinson's Locus in a European Ancestry Population
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- Contribution to journal › Article
- 2020
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Mark
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
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- Contribution to journal › Debate/Note/Editorial
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Mark
Disappearance of familially aggregated paralysis agitans in subsequent generations: a 135-year follow up study
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- Contribution to journal › Published meeting abstract
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Mark
Long term outcome of Parkinson’s disease and validation of a new clinical classification system.
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- Contribution to journal › Published meeting abstract
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Mark
Ataxia project in Scania, Sweden: Study outline and current status
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- Contribution to journal › Published meeting abstract
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Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
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- Contribution to journal › Debate/Note/Editorial
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Mark
Abstracts of the IAPRD XXV World Congress on Parkinson's Disease and Related Disorders, 2020. Congress theme : Diagnosing and treating movement disorders in the era of personalized medicine
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- Contribution to journal › Debate/Note/Editorial
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Mark
Genetic mechanisms for stroke in young adults. A clinical perspective.
2020) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (monograph)
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
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- Contribution to journal › Article
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Mark
New generation genetic testing entering the clinic
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- Contribution to journal › Article
- 2019
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Mark
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
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- Contribution to journal › Article
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Mark
Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
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- Contribution to journal › Article
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
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Mark
Using global team science to identify genetic parkinson's disease worldwide
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- Contribution to journal › Article