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2019
Mark Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
Hellberg, Clara ^LU ; Alinder, Erik ; Jaraj, Daniel and Puschmann, Andreas ^LU (2019) In Parkinsonism and Related Disorders 69. p.79-84
- Contribution to journal › Article
2018
Mark SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
Davidsson, Josef ^LU ; Puschmann, Andreas ^LU ; Tedgård, Ulf ^LU ; Bryder, David ^LU ; Nilsson, Lars and Cammenga, Jörg (2018) In Leukemia 32(5). p.1106-1115
- Contribution to journal › Article
Mark Progressive myoclonus ataxia : Time for a new definition?
van der Veen, Sterre ; Zutt, Rodi ; Elting, Jan Willem J. ; Becker, Charlotte E. ^LU ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2018) In Movement Disorders 33(8). p.1281-1286
- Contribution to journal › Article
2016
Mark Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
Koens, L. H. ; Kuiper, A. ; Coenen, M. A. ; Elting, J. W.J. ; De Vries, J. J. ; Engelen, M. ; Koelman, J. H.T.M. ; Van Spronsen, F. J. ; Spikman, J. M. and De Koning, T. J. ^LU , et al. (2016) In Orphanet Journal of Rare Diseases 11(1).
- Contribution to journal › Article
2014
Mark Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Nibbeling, Esther A. ; Elting, Jan Willem J. ; Sival, Deborah A. ; Brouwer, Oebele F. ; de Vries, Jeroen J. ; Kremer, Hubertus P. ; Sinke, Richard J. and Tijssen, Marina A. , et al. (2014) In Movement Disorders 29(1). p.139-143
- Contribution to journal › Article
2012
Mark Friedreich ataxia in patients with FXN p.R165P point mutation.
Ygland, Emil ; Taroni, Franco ; Gellera, Cinzia ; Dunø, Morten ; Johnels, Petra ^LU ; Soller, Maria ^LU and Puschmann, Andreas ^LU (2012) In European Journal of Neurology 19(suppl1). p.727-727
- Contribution to journal › Published meeting abstract
2006
Mark The congenital disorders of glycosylation: a multifaceted group of syndromes.
Eklund, Erik ^LU and Freeze, Hudson H (2006) In NeuroRx 3(2). p.63-254
- Contribution to journal › Article
2004
Mark Monitor – biology
Heath, Victoria ; Noble, Christian ; Demidov, Vadim V. ; Barnes, Matt ; Miller, David J. ; Collin, Mattias ^LU ; Lain, Muriel and Egan, Timothy J. (2004) In Drug Discovery Today 9(15). p.678-681
- Contribution to journal › Letter

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