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COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.
Hedberg-Oldfors C, Darin N, Thomsen C, Lindberg C, Oldfors A. Hedberg-Oldfors C, et al. Among authors: oldfors a. Neurol Genet. 2020 Jun 16;6(4):e464. doi: 10.1212/NXG.0000000000000464. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637636 Free PMC article.
OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. ...CONCLUSIONS: We describe a novel nonsense mutation in APOPT1/COA8 an …
OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) de …
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.
Michael E, Hedberg-Oldfors C, Wilmar P, Visuttijai K, Oldfors A, Darin N. Michael E, et al. Among authors: oldfors a. Neuromuscul Disord. 2019 Feb;29(2):108-113. doi: 10.1016/j.nmd.2018.12.009. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30642739
We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease. The patient presented at birth with hydrops fetalis, …
We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 …
Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or Bystander?
Hjalmarsson C, Liljeqvist JÅ, Lindh M, Karason K, Bollano E, Oldfors A, Andersson B. Hjalmarsson C, et al. Among authors: oldfors a. J Card Fail. 2019 Jan;25(1):60-63. doi: 10.1016/j.cardfail.2018.07.466. Epub 2018 Aug 10. J Card Fail. 2019. PMID: 30103022
The aim of this work was to investigate the presence and long-term consequences of PVB19-DNA within myocardial biopsies from patients with IDCM and to compare the findings with those from donor hearts (control group). ...
The aim of this work was to investigate the presence and long-term consequences of PVB19-DNA within myocardial biopsies from patients …
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Hedberg-Oldfors C, Lindberg C, Oldfors A. Hedberg-Oldfors C, et al. Among authors: oldfors a. Neurol Genet. 2018 Jul 23;4(4):e254. doi: 10.1212/NXG.0000000000000254. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065953 Free PMC article.
OBJECTIVE: To describe the long-term clinical follow-up in 3 siblings with Carey-Fineman-Ziter syndrome (CFZS), a form of congenital myopathy with a novel mutation in the myomaker gene (MYMK). ...
OBJECTIVE: To describe the long-term clinical follow-up in 3 siblings with Carey-Fineman-Ziter syndrome (CFZS), a form of congenital …
New insights in the field of muscle glycogenoses.
Oldfors A, DiMauro S. Oldfors A, et al. Curr Opin Neurol. 2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc. Curr Opin Neurol. 2013. PMID: 23995275 Review.
SUMMARY: Important recent developments in the field of muscle glycogenoses include a new disease entity, a new animal model of McArdle disease, and better knowledge of the pathogenesis in some glycogenoses and of the long-term effects of enzyme replacement therapy in Pompe …
SUMMARY: Important recent developments in the field of muscle glycogenoses include a new disease entity, a new animal model of McArdle disea …
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Tajsharghi H, et al. Among authors: oldfors a. Ann Neurol. 2003 Oct;54(4):494-500. doi: 10.1002/ana.10693. Ann Neurol. 2003. PMID: 14520662
Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease....
Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle …
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child.
Larsson NG, Eiken HG, Boman H, Holme E, Oldfors A, Tulinius MH. Larsson NG, et al. Among authors: oldfors a. Am J Hum Genet. 1992 Feb;50(2):360-3. Am J Hum Genet. 1992. PMID: 1734716 Free PMC article.
No deleted mtDNA was detected in blood from the mother of the patient. The patient had an uneventful pregnancy and delivered at term. Deleted mtDNA could not be detected in placenta by Southern blot analysis. ...
No deleted mtDNA was detected in blood from the mother of the patient. The patient had an uneventful pregnancy and delivered at term. …