Jørgen Erik Nielsen
Clinical Professor
Department of Clinical Medicine
Rigshospitalet - Neurocentret, Blegdamsvej 9, 2100 København Ø
- Published
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. / Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille; Scheuer, K.H.; Grønbech-Jensen, M.; Law, I.; Krabbe, K.; Nørremølle, Anne; Eiberg, Hans Rudolf Lytchoff; Søndergård, H.; Dam, M.; Rehfeld, J.F.; Krarup, C.; Paulson, O.B.; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.
In: European Journal of Neurology, Vol. 11, No. 12, 2004, p. 817-824.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. / Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne; Jensen, Lisa Neerup; Nørremølle, Anne; Hasholt, Lis.
In: Prenatal Diagnosis, Vol. 24, No. 5, 2004, p. 363-6.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 9689629
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Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B
Research output: Contribution to journal › Journal article › Research › peer-review
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141
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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
Research output: Contribution to journal › Journal article › Research › peer-review
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140
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
Research output: Contribution to journal › Journal article › Research › peer-review
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