Ann Lofgren
Overview
Explore the profile of Ann Lofgren including associated specialties, affiliations and a list of published articles.
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10
Citations
278
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Recent Articles
1.
De Wachter M, Schoonjans A, Weckhuysen S, Van Schil K, Lofgren A, Meuwissen M, et al.
Eur J Paediatr Neurol
. 2023 Dec;
48:46-60.
PMID: 38039826
The implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves...
2.
Madrid R, Lofgren A, Baets J, Timmerman V
Neuromuscul Disord
. 2013 Jan;
23(4):345-8.
PMID: 23313019
We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane...
3.
Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin J, et al.
Eur J Paediatr Neurol
. 2012 Feb;
16(5):542-8.
PMID: 22342071
Aims: Description of the clinical course in a child compound heterozygous for POLG1 mutations, neuropathology findings and results of dietary treatment based on fasting avoidance and long chain triglycerides (LCT)...
4.
Kurt B, Jaeken J, Van Hove J, Lagae L, Lofgren A, Everman D, et al.
Arch Neurol
. 2010 Feb;
67(2):239-44.
PMID: 20142534
Objective: To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. Design: Genotype-phenotype correlation. Setting:...
5.
Ivanova N, Claeys K, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, et al.
Arch Neurol
. 2007 May;
64(5):706-13.
PMID: 17502470
Objective: To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. Design: We screened a large cohort of 182 families...
6.
Hakonen A, Heiskanen S, Juvonen V, Lappalainen I, Luoma P, Rantamaki M, et al.
Am J Hum Genet
. 2005 Aug;
77(3):430-41.
PMID: 16080118
Mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new...
7.
Van Goethem G, Lofgren A, Dermaut B, Ceuterick C, Martin J, Van Broeckhoven C
Hum Mutat
. 2003 Jul;
22(2):175-6.
PMID: 12872260
No abstract available.
8.
Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J
Eur J Hum Genet
. 2003 Jun;
11(7):547-9.
PMID: 12825077
Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial DNA deletions and can be caused by missense mutations in POLG, the gene encoding the mitochondrial...
9.
Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, et al.
Hum Mutat
. 2003 May;
21(6):615-21.
PMID: 12754708
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations...
10.
Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, et al.
Neuromuscul Disord
. 2002 Oct;
12(9):869-73.
PMID: 12398840
Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the...