J. E. Nielsen

发表

On the association between apathy and deficits of social cognition and executive functions in Huntington’s disease

Rebecca K. Hendel, L. Hjermind, A. Vogel, 2022, Journal of the International Neuropsychological Society.

Relationship between cerebrospinal fluid biomarkers of inflammation and tissue damage in primary progressive multiple sclerosis.

H. Siebner, H. Lundell, F. Sellebjerg, 2022, Multiple sclerosis and related disorders.

Proteomic investigations of the ventriculo-lumbar gradient in human CSF

G. Waldemar, K. Winge, A. Simonsen, 2010, Journal of Neuroscience Methods.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

FUS pathology deﬁnes the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

P. Deyn, J. Trojanowski, M. Rossor, 2010 .

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia

C. Crone, I. Law, L. Møller, 2021, The Cerebellum.

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

A. Isaacs, T. Nielsen, J. Nielsen, 2012, The journal of gene medicine.

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

G. Knudsen, E. L. Mortensen, Erik Lykke Mortensen, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease

Martina Zenkner, E. Wanker, G. Dittmar, 2023, bioRxiv.

Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer’s disease neurons

Nadezhda T. Doncheva, J. Gorodkin, S. Cirera, 2022, bioRxiv.

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

T. Nielsen, C. Criscuolo, M. Fraidakis, 2023, Orphanet Journal of Rare Diseases.

Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

L. Regeur, L. Friberg, R. Wevers, 2006, Movement disorders : official journal of the Movement Disorder Society.

Endo‐lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation

K. Blennow, H. Zetterberg, A. Simonsen, 2023, Alzheimer's & dementia.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Brain : a journal of neurology.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

H. Eiberg, P. Gideon, S. Hasselbalch, 2004, American journal of medical genetics. Part A.

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

S. Kjaergaard, A. Nørremølle, P. Koefoed, 2004, Prenatal diagnosis.

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

L. Friberg, A. Løkkegaard, T. Nielsen, 2012, BMC Neurology.

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

E. Budtz-Jørgensen, A. Simonsen, J. Nielsen, 2015, European journal of neurology.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia

M. Larsen, P. Jensen, H. Waagepetersen, 2020, Molecular Brain.

Occurrence of cancer in women with Turner syndrome.

J. Olsen, N. Tommerup, J. Hansen, 1996, British Journal of Cancer.

A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment

P. S. St George-Hyslop, G. Waldemar, N. Heegaard, 2008, European journal of neurology.

Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9)

H. Eiberg, L. Korbo, L. Hansen, 2012, Clinical genetics.

Genotype–phenotype correlation of paroxysmal nonkinesigenic dyskinesia

M. Hallett, E. Bertini, K. Gwinn‐Hardy, 2007, Neurology.

Frontotemporal dementia linked to chromosome 3 (FTD‐3) – current concepts and the detection of a previously unknown branch of the Danish FTD‐3 family

A. Isaacs, J. Nielsen, H. Brændgaard, 2008, European journal of neurology.

Dentatorubral‐pallidoluysian atrophy. Clinical features of a five‐generation danish family

A. Nørremølle, S. Sørensen, L. Hasholt, 1996, Movement disorders : official journal of the Movement Disorder Society.

Golgi fragmentation – One of the earliest organelle phenotypes in Alzheimer’s disease neurons

J. Gorodkin, S. Cirera, N. Doncheva, 2023, Frontiers in Neuroscience.

Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9)

H. Eiberg, L. Korbo, L. Hansen, 2012, Clinical genetics.

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia

C. Crone, I. Law, L. Møller, 2021, The Cerebellum.

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

E. Budtz-Jørgensen, A. Nørremølle, T. Nielsen, 2016, Clinical genetics.