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- 2024
-
Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
-
Mark
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
(
- Contribution to journal › Article
-
Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
(
- Contribution to journal › Article
-
Mark
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
(
- Contribution to journal › Article
-
Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
- 2023
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
-
Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(
- Contribution to journal › Article
-
Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
(
- 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
-
Mark
Whole exome sequencing of familial, combined or complex dystonia
(
- Contribution to journal › Published meeting abstract
-
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
-
Mark
Patient perspective in hereditary ataxia
(
- Contribution to journal › Published meeting abstract
-
Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
(
- Contribution to journal › Published meeting abstract
-
Mark
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
(
- Contribution to journal › Article
-
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
- 2022
-
Mark
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
(
- Contribution to journal › Article
-
Mark
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
(
- Contribution to journal › Article
-
Mark
Dairy Intake and Parkinson's Disease : A Mendelian Randomization Study
(
- Contribution to journal › Article
-
Mark
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease
(
- Contribution to journal › Article
-
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
-
Mark
Insights on Genetic and Environmental Factors in Parkinson's Disease from a Regional Swedish Case-Control Cohort
(
- Contribution to journal › Article
-
Mark
Patients’ Perspective in Hereditary Ataxia
2022) In Cerebellum(
- Contribution to journal › Article
-
Mark
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
(
- Contribution to journal › Article
-
Mark
A relatively common hypomorphic variant in WARS2 causes monogenic disease
(
- Contribution to journal › Debate/Note/Editorial
- 2021
-
Mark
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes
(
- Contribution to journal › Letter
-
Mark
Clinical classification systems and long-term outcome in mid- and late-stage Parkinson’s disease
(
- Contribution to journal › Article
-
Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
(
- Contribution to journal › Article
- 2020
-
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
-
Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
(
- Contribution to journal › Article
-
Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
-
Mark
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
-
Mark
Disappearance of familially aggregated paralysis agitans in subsequent generations: a 135-year follow up study
(
- Contribution to journal › Published meeting abstract
-
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
-
Mark
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
(
- Contribution to journal › Article
-
Mark
Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
(
- Contribution to journal › Article
-
Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2018
-
Mark
Slowly progressive dementia caused by MAPT R406W mutations : Longitudinal report on a new kindred and systematic review
(
- Contribution to journal › Article
-
Mark
Will FTLD-tau work for all when FTDP-17 retires?
(
- Contribution to journal › Article
-
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
Tidig diagnos och behandling med gallsyra avgörande vid cerebrotendinös xantomatos
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
(
- 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
-
Mark
PBB3 imaging in Parkinsonian disorders : Evidence for binding to tau and other proteins
(
- Contribution to journal › Article
-
Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
-
Mark
New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism
(
- Contribution to journal › Scientific review
-
Mark
PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
2017) 21st International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 32(Suppl 2). p.585-587(
- Contribution to journal › Published meeting abstract
-
Mark
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
(
- Contribution to journal › Letter
- 2016
-
Mark
Autosomal dominant Parkinson's disease caused by SNCA duplications.
(
- Contribution to journal › Article
-
Mark
18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers
(
- Contribution to journal › Article
-
Mark
Wilson disease: Acute dystonia during treatment with SSRI or SNRI
2016) XXI World Congress on Parkinson's Disease and Related Disorders In Parkinsonism and Related Disorders 22(Suppl 2). p.140-141(
- Contribution to journal › Published meeting abstract
-
Mark
Tobacco increases dystonia risk but may ameliorate symptoms
2016) XXI World Congress on Parkinson's Disease and Related Disorders In Parkinsonism and Related Disorders 22(Suppl 2). p.137-138(
- Contribution to journal › Published meeting abstract
-
Mark
Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up
(
- Contribution to journal › Article
-
Mark
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
(
- Contribution to journal › Article
-
Mark
Heterozygous PINK1 p.G411S mutation increases risk for Parkinson's disease (PD)
2016) 20th International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 31(Suppl. S2). p.282-282(
- Contribution to journal › Published meeting abstract
-
Mark
18F-AV1451 pet detects tau pathology in mapt mutation carriers and correlates strongly with immunohistochemistry of tau aggregates
2016) Alzheimer’s Association International Conference 2016 In Alzheimer's and Dementia 12(7 Suppl). p.723-724(
- Contribution to journal › Published meeting abstract
- 2015
-
Mark
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
(
- Contribution to journal › Article
-
Mark
CHCHD2 and Parkinson's disease
(
- Contribution to journal › Letter
-
Mark
Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease.
(
- Contribution to journal › Article
-
Mark
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
(
- Contribution to journal › Article
-
Mark
Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.
(
- Contribution to journal › Article
-
Mark
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
2015) In Neurology(
- Contribution to journal › Article
-
Mark
Improving the likelihood of neurology patients being examined using patient feedback
(
- Contribution to journal › Article
-
Mark
The TOS2 study: An international multi-centre audit assessing the standard of neurological examination
(
- Contribution to journal › Published meeting abstract
-
Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
(
- Contribution to journal › Article
- 2014
-
Mark
Alpha-Synuclein Repeat Variants and Survival in Parkinson's Disease
(
- Contribution to journal › Article
-
Mark
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
(
- Contribution to journal › Article
-
Mark
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
(
- Contribution to journal › Article
-
Mark
Genotype-Phenotype Correlations in Parkinson Disease
2014) p.259-285(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
(
- Contribution to journal › Article
-
Mark
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
(
- Contribution to journal › Article
-
Mark
Neuroacanthocytosis - Clinical variability (a report on six cases)
2014) Eighteenth International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 29(Suppl 1). p.194-194(
- Contribution to journal › Published meeting abstract
- 2013
-
Mark
Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
(
- Contribution to journal › Article
-
Mark
Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
(
- Contribution to journal › Article
-
Mark
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
(
- Contribution to journal › Scientific review
-
Mark
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
(
- Contribution to journal › Article
-
Mark
Genetiska orsaker till Parkinsons sjukdom
(
- Contribution to specialist publication or newspaper › Specialist publication article
-
Mark
Olfactory Dysfunction.
2013) p.335-348(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
-
Mark
GNAL mutations cause adult-onset primary dystonia
(
- Contribution to journal › Published meeting abstract
-
Mark
GWAS risk factors in Parkinson's disease : LRRK2 coding variation and genetic interaction with PARK16
(
- Contribution to journal › Article
- 2012
-
Mark
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
(
- Contribution to journal › Article
-
Mark
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
(
- Contribution to journal › Article
-
Mark
First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.
(
- Contribution to journal › Article
-
Mark
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
(
- Contribution to journal › Article
-
Mark
Genetics of Parkinson's
2012) p.88-90(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Synucleinopathies from bench to bedside.
(
- Contribution to journal › Article
-
Mark
Friedreich ataxia in patients with FXN p.R165P point mutation.
(
- Contribution to journal › Published meeting abstract
-
Mark
Large-scale replication and heterogeneity in Parkinson disease genetic loci
(
- Contribution to journal › Article
-
Mark
Friedreich's ataxia in patients with FXN p.R165P point mutation
2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727(
- Contribution to journal › Published meeting abstract
- 2011
-
Mark
A family with parkinsonism, essential tremor, restless legs syndrome, and depression
(
- Contribution to journal › Article
-
Mark
Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.
(
- Thesis › Doctoral thesis (compilation)
-
Mark
Independent and Joint Effects of the MAPT and SNCA Genes in Parkinson Disease
(
- Contribution to journal › Article
-
Mark
Human leukocyte antigen variation and Parkinson's disease.
(
- Contribution to journal › Article
-
Mark
VPS35 Mutations in Parkinson Disease
(
- Contribution to journal › Article
-
Mark
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
(
- Contribution to journal › Article
-
Mark
An African-American family with dystonia.
(
- Contribution to journal › Article
-
Mark
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
(
- Contribution to journal › Article
-
Mark
Diagnosis and Treatment of Common Forms of Tremor
(
- Contribution to journal › Article
- 2010
-
Mark
Hereditary Parkinson's Disease of Unknown Genetic Cause in Two Families from Southern Sweden
2010) 24th Annual Symposium on Etiology, Pathogenesis and Treatment of Parkinsons Disease and Other Movement Disorders In Movement Disorders 25(6).(
- Contribution to journal › Published meeting abstract
-
Mark
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease : large-scale collaborative study
(
- Contribution to journal › Article
-
Mark
Familial late-onset focal dystonia in an African American family
(
- Contribution to journal › Published meeting abstract
-
Mark
LRRK2 variation and Parkinson's disease in African Americans
(
- Contribution to journal › Article
- 2009
-
Mark
Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
(
- Contribution to journal › Article
-
Mark
Unverricht-Lundborg disease-A misnomer?
(
- Contribution to journal › Letter
-
Mark
Herman Lundborg did not describe Unverricht-Lundborg disease: hyperekplexia in a Swedish family with hereditary Parkinson's disease due to alpha-synuclein multiplications
2009) 13th Congress of the European-Federation-of-Neurological-Societies In European Journal of Neurology 16. p.153-153(
- Contribution to journal › Published meeting abstract
-
Mark
A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction.
(
- Contribution to journal › Article
- 2007
-
Mark
The "Lister family": An extended pedigree with alpha-synuclein multiplications and Parkinson's disease.
2007) XVII WFN World Congress on Parkinson's Disease and Related Disorders, 2007 In Parkinsonism & Related Disorders 13(supplement 2). p.95-96(
- Contribution to journal › Published meeting abstract
- 2006
-
Mark
Neurocysticerkos som orsak till epileptiskt anfall. Infektion med svinbandmask finns sporadiskt i Skandinavien
(
- Contribution to journal › Article
- 2003
-
Mark
Characterisation of the functional role of the inducible transcription factor NF-kappaB in isolated rat parietal cells
2003)(
- Thesis › Doctoral thesis (monograph)
-
Mark
TNF-alpha induces apoptosis of parietal cells.
(
- Contribution to journal › Article