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Roger Weis

Explore the profile of Roger Weis including associated specialties, affiliations and a list of published articles. Areas
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Citations 13
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Recent Articles
1.
Brenner D, Baumgartner T, von Spiczak S, Lewerenz J, Weis R, Grimmer A, et al.
Neurol Res Pract . 2020 Jun; 1. PMID: 32587944
Background: Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in (Laforin) or (, Malin). The epidemiology of Lafora disease in...
2.
Bartsch O, Schneider E, Damatova N, Weis R, Tufano M, Iorio R, et al.
Am J Med Genet A . 2010 Jul; 152A(8):2099-102. PMID: 20635403
We report on a 4-year-old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan-McDermid syndrome), karyotype 46,XX.ish del(22)(q13.31qter)(ARSA-,N85A-,SHANK3-). At the age of 3 years, she needed an...