المؤلفون: Emilie Neerup, Nielsen, Birna, Ásbjörnsdóttir, Lisbeth Birk, Møller, Jørgen Erik, Nielsen, Suzanne Granhøj, Lindquist

المصدر: Cold Spring Harbor molecular case studies. 8(6)

مصطلحات موضوعية: Acetazolamide, Adolescent, Cerebellar Ataxia, Dystonic Disorders, Humans, Female, Myokymia, Ataxia, Calcium Channels, Middle Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e4e6cbe792287ca52f21fe9968e4c3e7
https://pubmed.ncbi.nlm.nih.gov/36307210

المؤلفون: Lisbeth Birk Møller, Christine I Dali, Suzanne Granhøj Lindquist, Lisbeth Marner, Lena E. Hjermind, Jørgen E. Nielsen, Erik-Jan Kamsteeg

المصدر: Cerebellum, 16, 1, pp. 268-271
Cerebellum, 16, 268-271

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Movement disorders, Denmark, DNA Mutational Analysis, Disease, Protein Serine-Threonine Kinases, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, Spinocerebellar Ataxias, Family, Frameshift Mutation, Exome sequencing, Genetics, Sanger sequencing, Brain, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Neurology, Mutation (genetic algorithm), Spinocerebellar ataxia, symbols, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8191cf3683453651c7dc49e799d48d
https://hdl.handle.net/2066/169903

المؤلفون: P. St. George-Hyslop, Marianne Schwartz, Justyna M.C. Bahl, Mustafa Batbayli, Anne Nørremølle, Fusheng Chen, Jette Stokholm, Henning Laursen, Raphaëlle Pardossi-Piquard, Birgitte Bo Andersen, Niels H. H. Heegaard, Suzanne Granhøj Lindquist, Lis Hasholt, Jørgen E. Nielsen, Gunhild Waldemar

المصدر: European Journal of Neurology. 15:1135-1139

مصطلحات موضوعية: Genetics, Mutation, Methionine, biology, business.industry, Genetic counseling, medicine.disease_cause, chemistry.chemical_compound, Exon, Neurology, chemistry, PSEN2, Amyloid precursor protein, biology.protein, Medicine, Missense mutation, Neurology (clinical), business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b8f487feffb04cae700abf6361040a7
https://doi.org/10.1111/j.1468-1331.2008.02256.x

المؤلفون: Jørgen E. Nielsen, Kirsten Svenstrup, Adrian M. Isaacs, Suzanne Granhøj Lindquist, Hans Brændgaard

المصدر: European Journal of Neurology. 15:667-670

مصطلحات موضوعية: medicine.medical_specialty, Truncating mutation, business.industry, Disease, medicine.disease, language.human_language, Danish, Neurological assessment, Neurology, Chromosome 3, mental disorders, Mutation (genetic algorithm), medicine, language, Dementia, Neurology (clinical), Psychiatry, business, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9e7058ed04f3b849a3016fac5a7bad7a
https://doi.org/10.1111/j.1468-1331.2008.02144.x

المؤلفون: Jesper Erdal, Jørgen E. Nielsen, Gunhild Waldemar, Mustafa Batbayli, Jette Stokholm, Martin Ballegaard, Suzanne Granhøj Lindquist, Katja Krabbe, Marianne Schwartz

المصدر: Journal of the Neurological Sciences. 268:124-130

مصطلحات موضوعية: Male, Threonine, Proband, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Blood Pressure, Iran, Biology, Presenilin, Amyloid beta-Protein Precursor, Alzheimer Disease, mental disorders, PSEN2, medicine, PSEN1, Humans, Dementia, Missense mutation, Early-onset Alzheimer's disease, Family Health, Genetics, Alanine, Amyloid beta-Peptides, Electroencephalography, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Peptide Fragments, Neurology, Mutation, Neurology (clinical), Alzheimer's disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4b8d6d825ff3e5b19726d2b61a581d
https://doi.org/10.1016/j.jns.2007.11.021

المؤلفون: Suzanne Granhøj, Lindquist, Morten, Dunø, Kirsten, Svenstrup, Jørgen Erik, Nielsen

المصدر: Ugeskrift for laeger. 176(43)

مصطلحات موضوعية: DNA-Binding Proteins, Superoxide Dismutase-1, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Mutation, Humans, Proteins, RNA-Binding Protein FUS, Genetic Counseling, Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5d9833bf83c2d338417f9c738b5fba64
https://pubmed.ncbi.nlm.nih.gov/25353674

المؤلفون: Jørgen E. Nielsen, Lis Hasholt, Suzanne Granhøj Lindquist, Lena E. Hjermind, Anne Nørremølle

المصدر: Journal of the neurological sciences. 241(1-2)

مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Biology, Chromosome 19, medicine, Spinocerebellar ataxia type 6, Humans, Spinocerebellar Ataxias, Allele, Aged, Genetics, Cerebellar ataxia, Anticipation, Genetic, medicine.disease, Infectious Disease Transmission, Vertical, nervous system diseases, Pedigree, Neurology, Anticipation (genetics), Spinocerebellar ataxia, Female, Neurology (clinical), Calcium Channels, medicine.symptom, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f0d282a0195d136526e1d85b6f734c
https://pubmed.ncbi.nlm.nih.gov/16310805