Clinical Neurogenetics

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2015
Mark CHCHD2 and Parkinson's disease
Puschmann, Andreas ^LU ; Dickson, Dennis W ; Englund, Elisabet ^LU ; Wszolek, Zbigniew K and Ross, Owen A (2015) In Lancet Neurology 14(7). p.679-679
- Contribution to journal › Letter
Mark Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease.
Kalia, Lorraine V ; Lang, Anthony E ; Hazrati, Lili-Naz ; Fujioka, Shinsuke ; Wszolek, Zbigniew K ; Dickson, Dennis W ; Ross, Owen A ; Van Deerlin, Vivianna M ; Trojanowski, John Q and Hurtig, Howard I , et al. (2015) In JAMA Neurology 72(1). p.100-105
- Contribution to journal › Article
2014
Mark Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
Wictorin, Klas ^LU ; Brådvik, Björn ^LU ; Nilsson, Karin ^LU ; Soller, Maria ^LU ; van Westen, Danielle ^LU ; Bynke, Gunnel ^LU ; Bauer, Peter ; Schöls, Ludger and Puschmann, Andreas ^LU (2014) In Parkinsonism & Related Disorders 20(7). p.748-754
- Contribution to journal › Article
Mark Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
YGLAND, EMIL ^LU ; Taroni, Franco ; Gellera, Cinzia ; Caldarazzo, Serena ; Duno, Morten ; Soller, Maria ^LU and Puschmann, Andreas ^LU (2014) In Parkinsonism & Related Disorders 20(8). p.919-923
- Contribution to journal › Article
2013
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 Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
Vemula, Satya R ; Puschmann, Andreas ^LU ; Xiao, Jianfeng ; Rudzinska, Monika ; Frei, Karen P ; Truong, Daniel D ; Wszolek, Zbigniew K and LeDoux, Mark S (2013) In Human Molecular Genetics 22(12). p.2510-2519
- Contribution to journal › Article
Mark Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Lindquist, SG ; Duno, M ; Batbayli, M ; Puschmann, Andreas ^LU ; Braendgaard, H ; Mardosiene, S ; Svenstrup, K ; Pinborg, LH ; Vestergaard, K and Hjermind, LE , et al. (2013) In Clinical Genetics 83(3). p.279-283
- Contribution to journal › Article
Mark Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
Puschmann, Andreas ^LU (2013) In Parkinsonism & Related Disorders 19(4). p.407-415
- Contribution to journal › Scientific review
2012
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
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

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