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List of works by Jørgen E Nielsen

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

scientific article published in October 2012

Assessing impairment of executive function and psychomotor speed in premanifest and manifest Huntington's disease gene-expansion carriers.

scientific article

CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.

scientific article

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders ⬇️

scientific article published in June 2014

Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Do I misconstrue? Sarcasm detection, emotion recognition, and theory of mind in Huntington disease.

scientific article published on 24 August 2015

Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.

scientific article published on 6 July 2015

Familial hemiplegic migraine type 1 associated with parkinsonism: a case report.

scientific article published on January 2015

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

scientific article

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2 ⬇️

scientific article published on October 10, 2012

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

scientific article

Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers

scientific article (publication date: 7 October 2016)

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

scientific article

Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

scientific article

Reversal of pathology in CHMP2B‐mediated frontotemporal dementia patient cells using RNA interference ⬇️

scientific article published on 01 August 2012

Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease.

scientific article published on 28 September 2016

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report ⬇️

scientific article published on August 13, 2012

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

scientific article

Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease.

scientific article published on 13 June 2015

YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation?

scientific article published on 28 August 2014

[Genetic counselling is relevant in familial as well as sporadic cases of amyotrophic lateral sclerosis] ⬇️

scientific article published on 01 October 2014

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