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2024
Mark A Beautiful Failure : The Event of Death and Rhetorical Disorder in the Gospel according to Mark
Kuhlin, Joel ^LU (2024)
- Thesis › Doctoral thesis (monograph)
Mark Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
Dobloug, Sigurd ^LU ; Kjellström, Ulrika ^LU ; Anderson, Glenn ; Gardner, Emily ; Mole, Sara E. ; Sheth, Jayesh and Puschmann, Andreas ^LU (2024) In Molecular Genetics and Genomic Medicine 12(8).
- Contribution to journal › Article
Mark Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina ; Eklund, E.A. ^LU and Morava, E. (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article
2021
Mark Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
Huang, Miaozhen ; de Koning, Tom J. ^LU ; Tijssen, Marina A.J. and Verbeek, Dineke S. (2021) In Biochimica et Biophysica Acta - Molecular Basis of Disease 1867(1).
- Contribution to journal › Article
2020
Mark A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
Polet, Sjoukje S. ; Anderson, David G. ; Koens, Lisette H. ; van Egmond, Martje E. ; Drost, Gea ; Brusse, Esther ; Willemsen, Michèl AAP ; Sival, Deborah A. ; Brouwer, Oebele F. and Kremer, Hubertus PH , et al. (2020) In Parkinsonism and Related Disorders 72. p.44-48
- Contribution to journal › Article
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
2019
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
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

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