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- 2024
-
Mark
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants
Yektay Farahmand, Maha LU
; Wasselius, Johan
LU
; Englund, Elisabet
LU
; Braverman, Irwin
; Puschmann, Andreas
LU
and Ilinca, Andreea
LU
(2024)
In Neurologia i neurochirurgia polska
58(1).
p.94-105
- Contribution to journal › Article
-
Mark
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
Domenighetti, C. ; Puschmann, A. LU
; Hellberg, C.
LU
; Sharma, M.
LU
and Elbaz, A.
(2024)
In Neurology
103(3).
- Contribution to journal › Article
-
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
- 2023
-
Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
Almasoudi, Wejdan LU ; Nilsson, Christer LU ; Kjellström, Ulrika LU ; Sandeman, Kevin LU and Puschmann, Andreas LU
(2023)
In Clinical Parkinsonism and Related Disorders
8.
- Contribution to journal › Article
-
Mark
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Sugier, Pierre Emmanuel ; Puschmann, Andreas LU
; Rödström, Emil Ygland
LU
and Sharma, Manu
(2023)
In Movement Disorders
38(4).
p.604-615
- Contribution to journal › Article
-
Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
Vollstedt, Eva Juliane ; Puschmann, Andreas LU
and Klein, Christine
(2023)
In Movement Disorders
38(2).
p.286-303
- Contribution to journal › Article
-
Mark
Whole exome sequencing of familial, combined or complex dystonia
- Contribution to journal › Published meeting abstract
-
Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
Dobloug, S. LU
; Gorcenco, S.
LU
; Ehrencrona, H.
LU
and Puschmann, A.
LU
(2023)
In Parkinsonism & Related Disorders
113(Suppl).
p.72-72
- Contribution to journal › Published meeting abstract
-
Mark
Patient perspective in hereditary ataxia
Gorcenco, S. LU
; Karremo, C.
LU
and Puschmann, A.
LU
(2023)
In Parkinsonism & Related Disorders
113(Supp).
p.9-9
- Contribution to journal › Published meeting abstract
-
Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
Rödström, E. Ygland LU ; Soto-Beasley, A. ; Englund, E. LU
; Kafantari, E.
LU
; Dickson, D.W.
; Wszolek, Z.K.
; Puschmann, A.
LU
and Ross, O.A.
(2023)
In Parkinsonism & Related Disorders
113(Supp).
p.28-29
- Contribution to journal › Published meeting abstract