Clinical Neurogenetics
1 – 84 of 84
- show: 100
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2024
-
Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
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
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
(
- Contribution to journal › Article
-
Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
(
- Contribution to journal › Article
-
Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
- 2023
-
Mark
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
(
- Contribution to journal › Article
-
Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(
- Contribution to journal › Article
-
Mark
Clinical and genetic studies of patients and families with ataxia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
-
Mark
Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia
(
- Contribution to journal › Scientific review
-
Mark
Sag-rad : A Method for Single-Cell Population Genomics of Unicellular Eukaryotes
(
- Contribution to journal › Article
-
Mark
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
(
- Contribution to journal › Article
-
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
Varicella-zoster virus vasculopathy in a patient with multiple sclerosis receiving natalizumab
(
- 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
-
Mark
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
(
- Contribution to journal › Article
- 2022
-
Mark
A relatively common hypomorphic variant in WARS2 causes monogenic disease
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
(
- 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
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
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited
(
- Contribution to journal › Article
-
Mark
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors
(
- 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
- 2021
-
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
-
Mark
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes
(
- Contribution to journal › Letter
-
Mark
Replication of a Novel Parkinson's Locus in a European Ancestry Population
(
- Contribution to journal › Article
-
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)
- 2020
-
Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
(
- Contribution to journal › Debate/Note/Editorial
-
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)
-
Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
-
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
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
- 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
-
Mark
Using global team science to identify genetic parkinson's disease worldwide
(
- Contribution to journal › Article
- 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
-
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
- 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
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
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
Loci associated with ischaemic stroke and its subtypes (SiGN): A genome-wide association study
(
- Contribution to journal › Article
- 2015
-
Mark
CHCHD2 and Parkinson's disease
(
- Contribution to journal › Letter
-
Mark
Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.
(
- Contribution to journal › Article
-
Mark
Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease.
(
- Contribution to journal › Article
-
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
-
Mark
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
(
- Contribution to journal › Article
- 2014
-
Mark
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
(
- Contribution to journal › Article
-
Mark
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
(
- Contribution to journal › Article
- 2013
-
Mark
Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
(
- 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
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
- 2012
-
Mark
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
(
- 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
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
Single-institution experience with solid pseudopapillary neoplasm of the pancreas.
(
- Contribution to journal › Article
- 2010
-
Mark
Familial late-onset focal dystonia in an African American family
(
- Contribution to journal › Published meeting abstract