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Paucar, Martin
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1

The clinical spectrum of ataxia telangiectasia in a cohort ..:

Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika...
Heliyon.  10 (2024)  4 - p. e26073 , 2024
Link: https://doi.org/10.1016/..
 
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2

Cerebrospinal fluid glial fibrillary acidic protein, in con..:

Korpela, Sara ; Sundblom, Jimmy ; Zetterberg, Henrik...
Journal of the Neurological Sciences.  459 (2024)  - p. 122979 , 2024
Link: https://doi.org/10.1016/..
 
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3

Novel findings in a Swedish primary familial brain calcific..:

Sennfält, Stefan ; Gustavsson, Peter ; Malmgren, Helena...
Journal of the Neurological Sciences.  460 (2024)  - p. 123020 , 2024
Link: https://doi.org/10.1016/..
 
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4

Phenotypic variability in a large kindred with spastic para..:

Hjartarson, Helgi Thor ; Skott, Humberto ; Granberg, Tobias.
eNeurologicalSci.  35 (2024)  - p. 100497 , 2024
Link: https://doi.org/10.1016/..
 
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5

Comment to: "SCA4 Unravelled After More than 25 Years Using..:

Paucar, Martin ; Nilsson, Daniel ; Engvall, Martin...
Movement Disorders.  39 (2024)  6 - p. 1077-1077 , 2024
Link: https://doi.org/10.1002/..
 
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6

Genetic screening for Huntington disease phenocopies in Swe..:

Paucar, Martin ; Laffita-Mesa, José ; Niemelä, Valter...
Journal of the Neurological Sciences.  451 (2023)  - p. 120707 , 2023
Link: https://doi.org/10.1016/..
 
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7

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Fu..:

Ågren, Richard ; Geerdink, Niels ; Brunner, Han G....
International Journal of Molecular Sciences.  24 (2023)  13 - p. 10924 , 2023
Link: https://doi.org/10.3390/..
 
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8

Neuropathy with Cerebral Features Induced by Nitrous Oxide ..:

Lindeman, Erik ; Melin, Sara ; Paucar, Martin.
Toxics.  11 (2023)  12 - p. 959 , 2023
Link: https://doi.org/10.3390/..
 
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9

Genome sequencing with comprehensive variant calling identi..:

Ek, Marlene ; Nilsson, Daniel ; Engvall, Martin...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

Genome sequencing is a sensitive first-line test to diagnos..:

Lindstrand, Anna ; Ek, Marlene ; Kvarnung, Malin...
Pathology.  55 (2023)  - p. S19-S20 , 2023
Link: https://doi.org/10.1016/..
 
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11

Long-term administration of intravenous Trappsol® Cyclo™ (H..:

Sharma, Reena ; Hastings, Caroline ; Staretz-Chacham, Orna...
Molecular Genetics and Metabolism Reports.  36 (2023)  - p. 100988 , 2023
Link: https://doi.org/10.1016/..
 
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12

Sensory axonal neuropathy in RFC1-disease: tip of the icebe..:

Traschütz, Andreas ; Wilke, Carlo ; Haack, Tobias B....
Brain.  145 (2022)  3 - p. e6-e9 , 2022
Link: https://doi.org/10.1093/..
 
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13

Genome sequencing is a sensitive first-line test to diagnos..:

Lindstrand, Anna ; Ek, Marlene ; Kvarnung, Malin...
Genetics in Medicine.  24 (2022)  11 - p. 2296-2307 , 2022
Link: https://doi.org/10.1016/..
 
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14

Increasing involvement of CAPN1 variants in spastic ataxias..:

Méreaux, Jean-Loup ; Firanescu, Cristina ; Coarelli, Giulia...
neurogenetics.  22 (2021)  1 - p. 71-79 , 2021
Link: https://doi.org/10.1007/..
 
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15

Expanding the etiologic spectrum of spastic ataxia syndrome..:

Edhom, Karolina af ; Lidman, Christer ; Granberg, Tobias..
Journal of NeuroVirology.  27 (2021)  2 - p. 345-347 , 2021
Link: https://doi.org/10.1007/..
 
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