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2020
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
Mark Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Wictorin, Klas ^LU and Puschmann, Andreas ^LU (2020) In Neurologia i neurochirurgia polska 54(1). p.3-5
- Contribution to journal › Debate/Note/Editorial
Mark New generation genetic testing entering the clinic
Gorcenco, Sorina ^LU ; Ilinca, Andreea ^LU ; Almasoudi, Wejdan ^LU ; Kafantari, Efthymia ^LU ; Lindgren, Arne G. ^LU and Puschmann, Andreas ^LU (2020) In Parkinsonism and Related Disorders 73. p.72-84
- Contribution to journal › Article
Mark Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
Ilinca, Andreea ^LU ; Martinez-Majander, Nicolas ; Samuelsson, Sofie ^LU ; Piccinelli, Paul ^LU ; Truvé, Katarina ; Cole, John ; Kittner, Steven ; Soller, Maria ^LU ; Kristoffersson, Ulf ^LU and Tatlisumak, Turgut , et al. (2020) In Stroke 51(4). p.1056-1063
- Contribution to journal › Article
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
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
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 LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies : a genome-wide linkage and sequencing study
Quadri, Marialuisa ; Mandemakers, Wim ; Grochowska, Martyna M. ; Masius, Roy ; Geut, Hanneke ; Fabrizio, Edito ; Breedveld, Guido J. ; Kuipers, Demy ; Minneboo, Michelle and Vergouw, Leonie J.M. , et al. (2018) In The Lancet Neurology 17(7). p.597-608
- Contribution to journal › Article

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