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- 2024
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
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Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
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Mark
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
(
- Contribution to journal › Article
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Mark
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
(
- Contribution to journal › Article
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Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
(
- Contribution to journal › Article
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Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
- 2023
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Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
(
- Contribution to journal › Article
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Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(
- Contribution to journal › Article
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
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Mark
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
(
- Contribution to journal › Article
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Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
(
- Contribution to journal › Article
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Mark
Whole exome sequencing of familial, combined or complex dystonia
(
- Contribution to journal › Published meeting abstract
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Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
(
- Contribution to journal › Published meeting abstract
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Mark
Patient perspective in hereditary ataxia
(
- 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
(
- Contribution to journal › Published meeting abstract
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Mark
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
(
- 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
(
- Contribution to journal › Article
- 2022
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Mark
A relatively common hypomorphic variant in WARS2 causes monogenic disease
(
- Contribution to journal › Debate/Note/Editorial
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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
(
- Contribution to journal › Article
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Mark
Serum Neurofilament Light Chain as a Marker of Progression in Parkinson's Disease : Long-Term Observation and Implications of Clinical Subtypes
(
- 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
(
- Contribution to journal › Article
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Mark
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
(
- Contribution to journal › Article
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Mark
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
(
- Contribution to journal › Article
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Mark
Dairy Intake and Parkinson's Disease : A Mendelian Randomization Study
(
- Contribution to journal › Article
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Mark
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
(
- 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
(
- Contribution to journal › Article
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Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
(
- Contribution to journal › Article
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Mark
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes
(
- Contribution to journal › Letter
- 2020
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Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
(
- Contribution to journal › Article
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Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
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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
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
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Mark
Disappearance of familially aggregated paralysis agitans in subsequent generations: a 135-year follow up study
(
- 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.
(
- Contribution to journal › Published meeting abstract
-
Mark
Ataxia project in Scania, Sweden: Study outline and current status
(
- Contribution to journal › Published meeting abstract
-
Mark
Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family
(
- Contribution to journal › Published meeting abstract
- 2019
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Mark
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
(
- Contribution to journal › Article
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Mark
Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
(
- 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
- 2018
-
Mark
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
(
- Contribution to journal › Article
-
Mark
Will FTLD-tau work for all when FTDP-17 retires?
(
- Contribution to journal › Article
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Mark
Tidig diagnos och behandling med gallsyra avgörande vid cerebrotendinös xantomatos
(
- Contribution to journal › Debate/Note/Editorial
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Mark
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies : a genome-wide linkage and sequencing study
(
- Contribution to journal › Article
-
Mark
Slowly progressive dementia caused by MAPT R406W mutations : Longitudinal report on a new kindred and systematic review
(
- Contribution to journal › Article
- 2017
-
Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
(
- Contribution to journal › Article
-
Mark
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
(
- Contribution to journal › Article
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Mark
PBB3 imaging in Parkinsonian disorders : Evidence for binding to tau and other proteins
(
- Contribution to journal › Article