Nazanin Mirza-Schreiber
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Explore the profile of Nazanin Mirza-Schreiber including associated specialties, affiliations and a list of published articles.
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16
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760
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Recent Articles
1.
Stehr A, Fischer J, Mirza-Schreiber N, Bernardi K, Porrmann J, Harrer P, et al.
Parkinsonism Relat Disord
. 2025 Feb;
133:107319.
PMID: 39933316
Introduction: Variable expressivity is an emerging characteristic of KMT2B-related dystonia. However, it remains poorly understood whether variants reoccurring at specific sites of lysine-specific methlytransferase-2B (KMT2B) can drive intra- and interfamilial...
2.
Garcia-Marin L, Campos A, Diaz-Torres S, Rabinowitz J, Ceja Z, Mitchell B, et al.
Nat Genet
. 2024 Oct;
56(11):2333-2344.
PMID: 39433889
Subcortical brain structures are involved in developmental, psychiatric and neurological disorders. Here we performed genome-wide association studies meta-analyses of intracranial and nine subcortical brain volumes (brainstem, caudate nucleus, putamen, hippocampus,...
3.
Garcia-Marin L, Campos A, Diaz-Torres S, Rabinowitz J, Ceja Z, Mitchell B, et al.
medRxiv
. 2024 Oct;
PMID: 39371125
Subcortical brain structures are involved in developmental, psychiatric and neurological disorders. We performed GWAS meta-analyses of intracranial and nine subcortical brain volumes (brainstem, caudate nucleus, putamen, hippocampus, globus pallidus, thalamus,...
4.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
5.
Oexle K, Zech M, Stuhn L, Siegert S, Brunet T, Schmidt W, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1032-1039.
PMID: 37365401
DNA methylation classifiers ("episignatures") help to determine the pathogenicity of variants of uncertain significance (VUS). However, their sensitivity is limited due to their training on unambiguous cases with strong-effect variants...
6.
Harrer P, Mirza-Schreiber N, Mandel V, Roeber S, Stefani A, Naher S, et al.
Mov Disord
. 2023 May;
38(8):1410-1418.
PMID: 37212434
Background: As opposed to other neurobehavioral disorders, epigenetic analyses and biomarkers are largely missing in the case of idiopathic restless legs syndrome (RLS). Objectives: Our aims were to develop a...
7.
Eising E, Mirza-Schreiber N, de Zeeuw E, Wang C, Truong D, Allegrini A, et al.
Proc Natl Acad Sci U S A
. 2022 Aug;
119(35):e2202764119.
PMID: 35998220
The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30...
8.
Lam D, Nikolic A, Zhao C, Mirza-Schreiber N, Krezel W, Oexle K, et al.
Hum Mol Genet
. 2021 Dec;
31(11):1733-1746.
PMID: 34888668
A highly evolutionarily conserved myeloid ecotropic viral integration site 1 (MEIS1) intronic region is strongly associated with restless legs syndrome (RLS) and insomnia. To understand its regulatory function, we dissected...
9.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, et al.
Brain
. 2021 Sep;
145(2):644-654.
PMID: 34590685
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is reported for histone lysine methyltransferase (KMT2B)-deficient dystonia, a...
10.
Gergei I, Zheng J, Andlauer T, Brandenburg V, Mirza-Schreiber N, Muller-Myhsok B, et al.
Hum Mol Genet
. 2021 Sep;
31(5):792-802.
PMID: 34542150
The protein α-Klotho acts as transmembrane co-receptor for fibroblast growth factor 23 (FGF23) and is a key regulator of phosphate homeostasis. However, α-Klotho also exists in a circulating form, with...