Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
YGLAND, EMIL LU ; Taroni, Franco ; Gellera, Cinzia ; Caldarazzo, Serena ; Duno, Morten ; Soller, Maria LU and Puschmann, Andreas LU
(2014)
In Parkinsonism & Related Disorders
20(8).
p.919-923
- Abstract
- Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4455400
- author
- YGLAND, EMIL
LU
; Taroni, Franco
; Gellera, Cinzia
; Caldarazzo, Serena
; Duno, Morten
; Soller, Maria
LU
and Puschmann, Andreas
LU
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Parkinsonism & Related Disorders
- volume
- 20
- issue
- 8
- pages
- 919 - 923
- publisher
- Elsevier
- external identifiers
-
- pmid:24816001
- wos:000340978600024
- scopus:84905269570
- pmid:24816001
- ISSN
- 1873-5126
- DOI
- 10.1016/j.parkreldis.2014.04.018
- language
- English
- LU publication?
- yes
- id
- 0589cb48-1c6b-479a-900f-57aca18baffa (old id 4455400)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24816001?dopt=Abstract
- date added to LUP
- 2016-04-01 09:57:54
- date last changed
- 2023-11-09 08:47:42
@article{0589cb48-1c6b-479a-900f-57aca18baffa,
abstract = {{Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).}},
author = {{YGLAND, EMIL and Taroni, Franco and Gellera, Cinzia and Caldarazzo, Serena and Duno, Morten and Soller, Maria and Puschmann, Andreas}},
issn = {{1873-5126}},
language = {{eng}},
number = {{8}},
pages = {{919--923}},
publisher = {{Elsevier}},
series = {{Parkinsonism & Related Disorders}},
title = {{Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.}},
url = {{https://lup.lub.lu.se/search/files/1430847/5152926.pdf}},
doi = {{10.1016/j.parkreldis.2014.04.018}},
volume = {{20}},
year = {{2014}},
}