Search Results - "Hjermind, LE"

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease by Lindquist, SG, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, LH, Vestergaard, K, Hjermind, LE, Stokholm, J, Andersen, BB, Johannsen, P, Nielsen, JE

“…Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal…”
Get full text

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9) by Eiberg, H, Hansen, L, Korbo, L, Nielsen, IM, Svenstrup, K, Bech, S, Pinborg, LH, Friberg, L, Hjermind, LE, Olsen, OR, Nielsen, JE

“…Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the…”
Get full text

G05Cognitive Impairment And Psychiatric Symptoms In A Danish Cohort Of Huntington's Disease Gene-expansion Carriers by Vinther-Jensen, T, Larsen, Unmack, Tolstrup Nielsen, T, Budtz-Joergensen, E, Hjermind, LE, Noerremoelle, A, Vogel, A, Nielsen, JE

“…BackgroundInvoluntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington's disease (HD). Despite…”
Get full text

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

“…Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder characterized by motor, psychiatric, and cognitive manifestations. HD…”
Get full text

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene by Asmus, Friedrich, Salih, Farid, Hjermind, Lena Elisabeth, Ostergaard, Karen, Munz, Marita, Kühn, Andrea A., Dupont, Erik, Kupsch, Andreas, Gasser, Thomas

“…Direct genomic DNA sequencing fails to detect epsilon‐sarcoglycan (SGCE) mutations in up to 30% of familial myoclonus‐dystonia (M‐D) cases. We identified novel…”
Get full text

Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors by Schultz, K., Nilsson, K., Nielsen, J. E., Lindquist, S. G., Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C., Petersén, Å.

“…Background:  Previous studies have indicated that transthyretin (TTR) levels in cerebrospinal fluid (CSF) are altered in depression and dementia. The present…”
Get full text

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations by Hjermind, L E, Vissing, J, Asmus, F, Krag, T, Lochmüller, H, Walter, M C, Erdal, J, Blake, D J, Nielsen, J E

“…Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-,…”
Get full text

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome by Hjermind, L E, Werdelin, L M, Eiberg, H, Krag-Olsen, B, Dupont, E, Sørensen, S A

“…Two families were referred with different clinical diagnoses of dystonia. Twenty-four family members were examined clinically, and mutation analyses were…”
Get full text

Inherited and de novo mutations in sporadic cases of DYT1-dystonia by Hjermind, Lena Elisabeth, Werdelin, Lene Moria, Sørensen, Sven Asger

“…A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia…”
Get full text

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: Maternally transmitted elongation in a presumed sporadic case by Lindquist, Suzanne Granhøj, Nørremølle, Anne, Hjermind, Lena Elisabeth, Hasholt, Lis, Nielsen, Jørgen Erik

“…Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular…”
Get full text