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The Capital Region of Denmark - a part of Copenhagen University Hospital
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NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

Research output: Contribution to journalJournal articleResearchpeer-review

  1. More precise phenotyping of cluster headache using prospective attack reports

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  2. Randomized trial of facilitated subcutaneous immunoglobulin in multifocal motor neuropathy

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  3. Acute endovascular reperfusion treatment in patients with ischaemic stroke and large-vessel occlusion (Denmark 2011–2017)

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  4. Disturbed sleep in cluster headache is not the result of transient processes associated with the cluster period

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  5. Disturbances of consciousness and sleep-wake functions in patients following brainstem lesions

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  1. Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

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  2. Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease

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  3. Hereditære ataksier og sygdomme i det motoriske neuron

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  4. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

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  5. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

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  Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized in the 'pure' phenotype by progressive spasticity and weakness of the lower limbs. In the 'complex' phenotype, additional neurologic symptoms or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP.
Original languageEnglish
JournalEuropean Journal of Neurology
Volume18
Issue number9
Pages (from-to)1197-9
Number of pages3
ISSN1351-5101
DOIs
Publication statusPublished - 2011

ID: 33224153