Andreas Puschmann

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2013
Mark Olfactory Dysfunction.
Puschmann, Andreas ^LU and Wszolek, Zbigniew K. (2013) p.335-348
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey and Thomas, Sophie , et al. (2013) In European Journal of Human Genetics 21(10). p.8-1074
- Contribution to journal › Article
Mark GNAL mutations cause adult-onset primary dystonia
Vemula, Satya R ; Puschmann, Andreas ^LU ; Xiao, Jianfeng ; Zhao, Yu-Xia ; Rudzinska, Monika ; Wszolek, Zbigniew K and LeDoux, Mark S. (2013) In Neurology 80(1).
- Contribution to journal › Published meeting abstract
2012
Mark Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
Wray, Selina ; Self, Matthew ; Lewis, Patrick A. ; Taanman, Jan-Willem ; Ryan, Natalie S. ; Mahoney, Colin J. ; Liang, Yuying ; Devine, Michael J. ; Sheerin, Una-Marie and Houlden, Henry , et al. (2012) In PLoS ONE 7(8).
- Contribution to journal › Article
Mark First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.
Puschmann, Andreas ^LU ; Englund, Elisabet ^LU ; Ross, Owen A ; Vilariño-Güell, Carles ; Lincoln, Sarah J ; Kachergus, Jennifer M ; Cobb, Stephanie A ; Törnqvist, Anna Lena ^LU ; Rehncrona, Stig ^LU and Widner, Håkan ^LU , et al. (2012) In Parkinsonism & Related Disorders 18(4). p.332-338
- Contribution to journal › Article
Mark Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
LeDoux, MS ; Xiao, J ; Rudzińska, M ; Bastian, RW ; Wszolek, ZK ; Van Gerpen, JA ; Puschmann, Andreas ^LU ; Momčilović, D ; Vemula, S and Zhao, Y (2012) In Parkinsonism & Related Disorders 18(5). p.414-425
- Contribution to journal › Article
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
Mark Synucleinopathies from bench to bedside.
Puschmann, Andreas ^LU ; Bhidayasiri, Roongroj and Weiner, William J (2012) In Parkinsonism & Related Disorders 18 Suppl 1. p.24-27
- Contribution to journal › Article
Mark Large-scale replication and heterogeneity in Parkinson disease genetic loci
Sharma, Manu ; Ioannidis, John P A ; Aasly, Jan O. ; Annesi, Grazia ; Brice, Alexis ; Van Broeckhoven, Christine ; Bertram, Lars ; Bozi, Maria ; Crosiers, David and Clarke, Carl E , et al. (2012) In Neurology 79(7). p.67-659
- Contribution to journal › Article
Mark Friedreich's ataxia in patients with FXN p.R165P point mutation
Ygland, E. ^LU ; Taroni, Franco ; Gellera, Cinzia ; Duno, M ; Johnels, P. ^LU ; Soller, M. ^LU and Puschmann, A. ^LU (2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727
- Contribution to journal › Published meeting abstract

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