Studier – Dansk selskab for als

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Studier – Dansk selskab for als

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Igangværende og færdige studier & artikler om ALS

Genetiske aspekter af ALS

Beskrivelse	Genetiske aspekter af ALS: Også i tilsyneladende sporadiske tilfælde er genetisk rådgivning relevant.
Forfatter(e)	Lindquist SG, Svenstrup K, Nielsen JE.
Link til artikel	Ugeskrift for Læger. 2014 Oct:176(43)

Hereditary spastic paraplegia

Beskrivelse	Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.
Forfatter(e)	Nielsen TT, Svenstrup K, Duno M, Nielsen JE.
Link til artikel	Spinal Cord. 2014 Jan;52(1):77-9. doi: 10.1038/sc.2013.116. Epub 2013 Oct 15.

ATXN2 with intermediate-length CAG/CAA

Beskrivelse	ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia.
Forfatter(e)	Nielsen TT, Svenstrup K, Budtz-Jørgensen E, Eiberg H, Hasholt L, Nielsen JE.
Link til artikel	J Neurol Sci. 2012 Oct 15;321(1-2):100-2. doi: 10.1016/j.jns.2012.07.036. Epub 2012 Aug 3.

Corticobasal and ataxia syndromes

Beskrivelse	Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
Forfatter(e)	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.
Link til artikel	Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4.

Withdrawal of invasive home mechanical ventilation

Beskrivelse	Withdrawal of invasive home mechanical ventilation in patients with advanced amyotrophic lateral sclerosis: ten years of Danish experience.
Forfatter(e)	Dreyer PS, Felding M, Klitnæs CS, Lorenzen CK.
Link til artikel	J Palliat Med. 2012 Feb;15(2):205-9. doi: 10.1089/jpm.2011.0133. Epub 2012 Jan 27.

Survival in ALS with home mechanical ventilation non-invasively and invasively

Beskrivelse	Survival in ALS with home mechanical ventilation non-invasively and invasively: a 15-year cohort study in west Denmark.
Forfatter(e)	Dreyer P, Lorenzen CK, Schou L, Felding M.
Link til artikel	Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):62-7. doi: 10.3109/21678421.2013.837929. Epub 2013 Sep 25.