A Oldfors
Overview
Explore the profile of A Oldfors including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
140
Citations
2792
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0
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Recent Articles
1.
Jennions E, Olsson-Engman M, Visuttijai K, Wiksell A, Fluriach Dominguez N, Kollberg G, et al.
Am J Med Genet A
. 2024 Jun;
194(10):e63783.
PMID: 38842388
Cytochrome c oxidase (COX) deficiency is a phenotypically diverse group of diseases caused by variants in over 30 genes. Biallelic pathogenic variants in COX6B1 have been described in four patients...
2.
Pruvost R, Csanyi M, Lefebvre G, Biancalana V, Malfatti E, Cassim F, et al.
Mol Genet Metab Rep
. 2024 Jan;
38:101046.
PMID: 38234863
No abstract available.
3.
Hedberg-Oldfors C, Mensch A, Visuttijai K, Stoltenburg G, Stoevesandt D, Kraya T, et al.
Acta Neurol Scand
. 2017 Nov;
137(3):308-315.
PMID: 29143313
Objectives: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance...
4.
Kirschenbaum D, Hedberg-Oldfors C, Oldfors A, Scherer E, Budka H
Neuropathol Appl Neurobiol
. 2017 Aug;
44(6):639-642.
PMID: 28792617
No abstract available.
5.
Darin N, Hedberg-Oldfors C, Kroksmark A, Moslemi A, Kollberg G, Oldfors A
Eur J Neurol
. 2017 Feb;
24(4):587-593.
PMID: 28181352
Background And Purpose: Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1 has previously been described in a few individuals...
6.
Schuelke M, Oien N, Oldfors A
Neuropathol Appl Neurobiol
. 2016 Dec;
43(1):44-61.
PMID: 28009443
The advent of Next Generation Sequencing (NGS) technologies has accelerated the rate of novel disease gene discovery. Analysis of the large datasets generated by whole exome sequencing, whole genome sequencing,...
7.
Lindberg C, Anderson B, Engvall M, Hult M, Oldfors A
Acta Neurol Scand
. 2015 Jul;
133(2):131-135.
PMID: 26190396
Objective: Pompe disease is a rare treatable glycogen storage disease with in adults - a limb-girdle muscle weakness. Muscle biopsy may fail to show the typical vacuolar myopathy. We asked...
8.
Roos S, Lindgren U, Ehrstedt C, Moslemi A, Oldfors A
Neuromuscul Disord
. 2014 Jun;
24(8):713-20.
PMID: 24953930
The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary reduction in mtDNA copy number. We describe a patient with...
9.
Tajsharghi H, Ohlsson M, Palm L, Oldfors A
Neuromuscul Disord
. 2012 Jul;
22(11):923-33.
PMID: 22749895
Mutations in TPM2, encoding β-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the...
10.
Lindberg C, Sixt C, Oldfors A
Acta Neurol Scand
. 2011 Oct;
125(4):285-7.
PMID: 22029705
Background: Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently...