CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers

Rostgaard, N., Roos, P., Portelius, E., Blennow, K., Zetterberg, H., Simonsen, A. H. & Nielsen, J. E. 2018 I : Neurology. 90, 2, s. e157-e163

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Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation

Ochalek, A., Mihalik, B., Avci, H. X., Chandrasekaran, A., Téglási, A., Bock, I., Giudice, M. L., Táncos, Z., Molnár, K., László, L., Nielsen, J. E., Holst, B., Freude, K., Hyttel, P., Kobolák, J. & Dinnyés, A. 1 dec. 2017 I : Alzheimer's research & therapy. 9, 1, s. 90

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Defining active progressive multiple sclerosis

Sellebjerg, F., Börnsen, L., Ammitzbøll, C., Nielsen, J. E., Vinther-Jensen, T., Hjermind, L. E., von Essen, M., Ratzer, R. L., Soelberg Sørensen, P. & Romme Christensen, J. nov. 2017 I : Multiple sclerosis (Houndmills, Basingstoke, England). 23, 13, s. 1727-1735 9 s.

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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)

Rostgaard, N., Roos, P., Budtz-Jørgensen, E., Johannsen, P., Waldemar, G., Nørremølle, A., Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, J. E. & FReJA collaboration nov. 2017 I : Neurobiology of aging. 59, s. 221.e1-221.e7

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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Hensman Moss, D. J., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Holmans, P., Jones, L., Tabrizi, S. J., TRACK-HD investigators, Hjermind, L. E. & Nielsen, J. E. sep. 2017 I : The Lancet Neurology. 16, 9, s. 701-711 11 s.

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Characterization of energy and neurotransmitter metabolism in cortical glutamatergic neurons derived from human induced pluripotent stem cells: A novel approach to study metabolism in human neurons

Aldana, B. I., Zhang, Y., Lihme, M. F., Bak, L. K., Nielsen, J. E., Holst, B., Hyttel, P., Freude, K. K. & Waagepetersen, H. S. jun. 2017 I : Neurochemistry International. 106, s. 48-61 14 s.

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Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Z., Nielsen, J. E. & Nielsen, T. T. maj 2017 I : Mitochondrion. 34, s. 103-114 12 s.

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Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B

Zhang, C-Y., Schmid, B., Nikolaisen, N. K., Rasmussen, M. A., Aldana, B. I., Agger, M., Calloe, K., Stummann, T. C., Larsen, H. M., Nielsen, T. T., Huang, J., Xu, F., Liu, X., Bolund, L., Meyer, M., Bak, L. K., Waagepetersen, H. S., Luo, Y., Nielsen, J. E., Holst, B., Clausen, C., Hyttel, P., Freude, K. K. & FReJA Consortium 14 mar. 2017 I : Stem Cell Reviews and Reports. 8, 3, s. 648-658 11 s.

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Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

Clayton, E. L., Mancuso, R., Nielsen, T. T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Overgaard Larsen, J., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, J. E., Johannsen, P., Holm, I., Collinge, J., Frej, A., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M. 1 mar. 2017 I : Human molecular genetics. s. 873-887

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Hereditary cerebral small vessel disease and stroke

Søndergaard, C. B., Nielsen, J. E., Hansen, C. K. & Christensen, H. K. 22 feb. 2017 I : Clinical Neurology and Neurosurgery. 155, s. 45-57 13 s.

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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Ferrari, R., Wang, Y., Vandrovcova, J., Guelfi, S., Witeolar, A., Karch, C. M., Schork, A. J., Fan, C. C., Brewer, J. B., Momeni, P., Schellenberg, G. D., Dillon, W. P., Sugrue, L. P., Hess, C. P., Yokoyama, J. S., Bonham, L. W., Rabinovici, G. D., Miller, B. L., Andreassen, O. A., Dale, A. M., Hardy, J., Desikan, R. S., International FTD-Genomics Consortium (IFGC), Hjermind, L. E. & Nielsen, J. E. feb. 2017 I : Journal of neurology, neurosurgery, and psychiatry. 88, 2, s. 152-164 13 s.

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A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

Lindquist, S. G., Møller, L. B., Dali, C. I., Marner, L., Kamsteeg, E-J., Nielsen, J. E. & Hjermind, L. E. 2017 I : Cerebellum (London, England). 16, 1, s. 268-71

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SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy

Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, I., Vissing, J., Roos, P., Hjermind, L. E. & Nielsen, J. E. 2017 I : Cerebellum (London, England). 16, 1, s. 62-67

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Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease

Larsen, I. U., Vinther-Jensen, T., Nielsen, J. E., Gade, A. & Vogel, A. 28 dec. 2016 I : PLoS Currents. 8

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

Larsen, I. U., Mortensen, E. L., Vinther-Jensen, T., Nielsen, J. E., Knudsen, G. M. & Vogel, A. dec. 2016 I : American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 171, 8, s. 1153-1160 8 s.

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

Vinther-Jensen, T., Börnsen, L., Budtz-Jørgensen, E., Ammitzbøll, C., Larsen, I. U., Hjermind, L. E., Sellebjerg, F. & Nielsen, J. E. dec. 2016 I : Neurology® neuroimmunology & neuroinflammation. 3, 6, s. e287

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Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia

Nimsanor, N., Jørring, I., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Kitiyanant, N., Nielsen, J. E., Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B. 20 okt. 2016 I : Stem Cell Research. 17, 3, s. 564-567 4 s.

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Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1

Poon, A., Li, T., Pires, C., Nielsen, T. T., Nielsen, J. E., Holst, B., Dinnyes, A., Hyttel, P. & Freude, K. K. 28 sep. 2016 I : Stem Cell Research. 17, 3, s. 470-473 4 s.

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Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, J. E., Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B. 28 sep. 2016 I : Stem Cell Research. 17, 3, s. 600-602 3 s.

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Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor, N., Kitiyanant, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, J. E., Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B. 28 sep. 2016 I : Stem Cell Research. 17, 3, s. 556-559 4 s.

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Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, J. E., Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B. 28 sep. 2016 I : Stem Cell Research. 17, 3, s. 576-579 4 s.

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Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

Poon, A., Schmid, B., Pires, C., Nielsen, T. T., Hjermind, L. E., Nielsen, J. E., Holst, B., Hyttel, P. & Freude, K. K. 24 sep. 2016 I : Stem Cell Research. 17, 3, s. 466-469 4 s.

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Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

Pires, C., Schmid, B., Petræus, C., Poon, A., Nimsanor, N., Nielsen, T. T., Waldemar, G., Hjermind, L. E., Nielsen, J. E., Hyttel, P. & Freude, K. K. sep. 2016 I : Stem Cell Research. 17, 2, s. 285-288 4 s.

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Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

Hansen, S. K., Stummann, T. C., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P. 16 aug. 2016 I : Stem Cell Research. 17, 2, s. 306-317 12 s.

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Clinical manifestations of intermediate allele carriers in Huntington disease

Cubo, E., Ramos-Arroyo, M. A., Martinez-Horta, S., Martínez-Descalls, A., Calvo, S., Gil-Polo, C., European HD Network (Lena Elisabeth Hjermind, Jørgen E Nielsen members), Hjermind, L. E. & Nielsen, J. E. 9 aug. 2016 I : Neurology. 87, 6, s. 571-8 8 s.

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Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, J. E., Clausen, C., Hyttel, P., Holst, B. & Freude, K. K. 16 jun. 2016 I : Stem Cell Research. 17, 1, s. 148-150 3 s.

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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P. maj 2016 I : Stem Cell Research. 16, 3, s. 553-6 4 s.

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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P. maj 2016 I : Stem Cell Research. 16, 3, s. 589-92 4 s.

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Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, J. E., Nørremølle, A., Hasholt, L., Hjermind, L. E. & Josefsen, K. 15 mar. 2016 I : Journal of the neurological sciences. 362, s. 326-32 7 s.

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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

Li, T., Pires, C., Nielsen, T. T., Waldemar, G., Hjermind, L. E., Nielsen, J. E., Dinnyes, A., Holst, B., Hyttel, P. & Freude, K. K. mar. 2016 I : Stem Cell Research. 16, 2, s. 334-7 4 s.

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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

Li, T., Pires, C., Nielsen, T. T., Waldemar, G., Hjermind, L. E., Nielsen, J. E., Dinnyes, A., Hyttel, P. & Freude, K. K. mar. 2016 I : Stem Cell Research. 16, 2, s. 229-32 4 s.

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Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease: A European population study

Dale, M., Maltby, J., Shimozaki, S., Cramp, R., Rickards, H., REGISTRY Investigators of the European Huntington's Disease Network, members: & Nielsen, J. E. jan. 2016 I : Journal of psychosomatic research. 80, s. 17-22 6 s.

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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196

Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, J. E., Nielsen, T. T. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 162-5 4 s.

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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266

Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, T. T., Nielsen, J. E. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 202-5 4 s.

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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, J. E., Nielsen, T. T. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 180-3 4 s.

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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1

Tubsuwan, A., Pires, C., Rasmussen, M. A., Schmid, B., Nielsen, J. E., Hjermind, L. E., Hall, V., Nielsen, T. T., Waldemar, G., Hyttel, P., Clausen, C., Kitiyanant, N., Freude, K. K. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 110-2 3 s.

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Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, J. E. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 199-201 3 s.

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Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266

Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, J. E. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 166-9 4 s.

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Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Hyttel, P., Nielsen, J. E., Nielsen, T. T. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 159-61 3 s.

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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)

Rasmussen, M. A., Hjermind, L. E., Hasholt, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 70-4 5 s.

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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT)

Rasmussen, M. A., Hjermind, L. E., Hasholt, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 75-8 4 s.

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Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia

Rasmussen, M. A., Hjermind, L. E., Hasholt, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B. jan. 2016 I : Stem Cell Research. 16, 1, s. 105-9 5 s.

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Do I Misconstrue?: Sarcasm Detection, Emotion Recognition, and Theory of Mind in Huntington Disease

Larsen, I. U., Vinther-Jensen, T., Gade, A., Nielsen, J. E. & Vogel, A. 2016 I : Neuropsychology. 30, 2, s. 181-189

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Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B

Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, J. E., Clausen, C., Hyttel, P., Holst, B. & Freude, K. K. 2016 I : Stem Cell Research. 17, 1, s. 151-153 3 s.

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

Vinther-Jensen, T., Nielsen, T. T., Budtz-Jørgensen, E., Larsen, I. U., Hansen, M. M., Hasholt, L., Hjermind, L. E., Nielsen, J. E. & Nørremølle, A. 2016 I : Clinical genetics. 89, 3, s. 320-7

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Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease

Larsen, I. U., Vinther-Jensen, T., Nielsen, J. E., Gade, A. & Vogel, A. 2016 I : PLOS Currents Huntington Disease. 8, s. E1-10

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Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population

Dale, M., Maltby, J., Martucci, R., Shimozaki, S. & REGISTRY investigators of the European Huntington's Disease Network (Joergen E Nielsen, member) dec. 2015 I : Movement disorders : official journal of the Movement Disorder Society. 30, 14, s. 1954-60 7 s.

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

Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., Johannsen, P., Nielsen, J. E., Asante, E. A., Collinge, J., Isaacs, A. M. & FReJA consortium okt. 2015 I : Acta Neuropathologica. 130, 4, s. 511-23 13 s.

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

Vinther-Jensen, T., Simonsen, A. H., Budtz-Jørgensen, E., Hjermind, L. E. & Nielsen, J. E. okt. 2015 I : European Journal of Neurology. 22, 10, s. 1378-84 7 s.

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