Sanna Puusepp
Overview
Explore the profile of Sanna Puusepp including associated specialties, affiliations and a list of published articles.
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13
Citations
203
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Recent Articles
1.
Ounap K, Reimand T, Oiglane-Shlik E, Puusepp S, Mihkla L, Pajusalu S, et al.
Neurol Genet
. 2025 Jan;
10(6):e200199.
PMID: 39807212
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who...
2.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, et al.
Hum Mutat
. 2022 Jun;
43(10):1347-1353.
PMID: 35731190
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on...
3.
Coppens S, Barnard A, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, et al.
Am J Hum Genet
. 2021 Jun;
108(6):1164.
PMID: 34087166
No abstract available.
4.
Coppens S, Barnard A, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, et al.
Am J Hum Genet
. 2021 Apr;
108(5):840-856.
PMID: 33861953
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23...
5.
Mencacci N, Brockmann M, Dai J, Pajusalu S, Atasu B, Campos J, et al.
J Clin Invest
. 2021 Feb;
131(7).
PMID: 33539324
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone...
6.
Puusepp S, Reinson K, Pajusalu S, van Kuilenburg A, Dobritzsch D, Roelofsen J, et al.
Mol Genet Metab Rep
. 2020 Dec;
25:100677.
PMID: 33294372
The gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function variants and decreased PRPS activity: Arts...
7.
Puusepp S, Reinson K, Pajusalu S, Murumets U, Oiglane-Shlik E, Rein R, et al.
Mol Genet Metab Rep
. 2018 Jul;
15:80-89.
PMID: 30009132
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome...
8.
Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann G, Kotzaeridou U, et al.
Eur J Hum Genet
. 2018 Jan;
26(3):407-419.
PMID: 29343804
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly...
9.
Thompson K, Majd H, Dallabona C, Reinson K, King M, Alston C, et al.
Am J Hum Genet
. 2016 Dec;
99(6):1405.
PMID: 27912046
No abstract available.
10.
Thompson K, Majd H, Dallabona C, Reinson K, King M, Alston C, et al.
Am J Hum Genet
. 2016 Oct;
99(4):860-876.
PMID: 27693233
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA...