Nuria C Bramswig

7PUBLICATIONS
130CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cellular nervous system
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Publications (7)

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Jul 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Mythily Ganapathi, Leticia S Matsuoka, Michael March

|Sep 01, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht

|Apr 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Nuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan

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Frequent Collaborators

4 joint publications

Benjamin Cogne

3 joint publications

Olfa Messaoud

3 joint publications

Caroline Nava

3 joint publications

Melanie C O'Leary