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2020
Mark Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Kafantari, Efthymia ^LU ; Andréasson, Sten ^LU ; Säll, Torbjörn ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism and Related Disorders 79. p.138-140
- Contribution to journal › Debate/Note/Editorial
Mark Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Prudencio, Mercedes ; Garcia-Moreno, Hector ; Jansen-West, Karen R ; Al-Shaikh, Rana Hanna ; Gendron, Tania F ; Heckman, Michael G ; Spiegel, Matthew R ; Carlomagno, Yari ; Daughrity, Lillian M and Song, Yuping , et al. (2020) In Science Translational Medicine 12(566).
- Contribution to journal › Article
Mark Disappearance of familially aggregated paralysis agitans in subsequent generations: a 135-year follow up study
Nilsson, Karin ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism & Related Disorders 79(Suppl.1). p.27-27
- Contribution to journal › Published meeting abstract
Mark Long term outcome of Parkinson’s disease and validation of a new clinical classification system.
Ygland Rödström, Emil ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism & Related Disorders 79(Suppl.1). p.35-36
- Contribution to journal › Published meeting abstract
Mark Ataxia project in Scania, Sweden: Study outline and current status
Gorcenco, Sorina ^LU ; Karremo, Christin ^LU ; Kafantari, Efthymia ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism & Related Disorders 79(Suppl 1). p.112-112
- Contribution to journal › Published meeting abstract
Mark Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family
Almasoudi, Wejdan ^LU ; Puschmann, Andreas ^LU and Nilsson, Christer ^LU (2020) In Parkinsonism & Related Disorders 79(Suppl.1). p.112-113
- Contribution to journal › Published meeting abstract
2019
Mark Low prevalence of known pathogenic mutations in dominant PD genes : A Swedish multicenter study
Puschmann, Andreas ^LU ; Jiménez-Ferrer, Itzia ^LU ; Lundblad-Andersson, Elin ^LU ; Mårtensson, Emma ^LU ; Hansson, Oskar ^LU ; Odin, Per ^LU ; Widner, Håkan ^LU ; Brolin, Kajsa ^LU ; Mzezewa, Ropafadzo and Kristensen, Jonas ^LU , et al. (2019) In Parkinsonism and Related Disorders 66. p.158-165
- Contribution to journal › Article
Mark Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
Gorcenco, Sorina ^LU ; Vaz, Frédéric M. ; Tracewska-Siemiatkowska, Anna ; Tranebjærg, Lisbeth ; Cremers, Frans P.M. ; Ygland, Emil ^LU ; Kicsi, Jenő ; Rendtorff, Nanna Dahl ; Möller, Claes and Kjellström, Ulrika ^LU , et al. (2019) In Parkinsonism & Related Disorders 61. p.245-247
- Contribution to journal › Letter
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

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