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Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02114-0
By:
- Stavsky, Alexandra;
- Stoler, Ohad;
- Kostic, Marko;
- Katoshevsky, Tomer;
- Assali, Essam A.;
- Savic, Ivana;
- Amitai, Yael;
- Prokisch, Holger;
- Leiz, Steffen;
- Daumer-Haas, Cornelia;
- Fleidervish, Ilya;
- Perocchi, Fabiana;
- Gitler, Daniel;
- Sekler, Israel
Publication type:
Article
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Published in:
2021
By:
- Stavsky, Alexandra;
- Stoler, Ohad;
- Kostic, Marko;
- Katoshevsky, Tomer;
- Assali, Essam A.;
- Savic, Ivana;
- Amitai, Yael;
- Prokisch, Holger;
- Leiz, Steffen;
- Daumer-Haas, Cornelia;
- Fleidervish, Ilya;
- Perocchi, Fabiana;
- Gitler, Daniel;
- Sekler, Israel
Publication type:
Correction Notice
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02114-0
By:
- Stavsky, Alexandra;
- Stoler, Ohad;
- Kostic, Marko;
- Katoshevsky, Tomer;
- Assali, Essam A.;
- Savic, Ivana;
- Amitai, Yael;
- Prokisch, Holger;
- Leiz, Steffen;
- Daumer-Haas, Cornelia;
- Fleidervish, Ilya;
- Perrochi, Fabiana;
- Gitler, Daniel;
- Sekler, Israel
Publication type:
Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
By:
- Dauwerse, Johannes G.;
- Dixon, Jill;
- Seland, Saskia;
- Ruivenkamp, Claudia A. L.;
- van Haeringen, Arie;
- Hoefsloot, Lies H.;
- Peters, Dorien J. M.;
- Boers, Agnes Clement-de;
- Daumer-Haas, Cornelia;
- Maiwald, Robert;
- Zweier, Christiane;
- Kerr, Bronwyn;
- Cobo, Ana M.;
- Toral, Joaquín F.;
- Hoogeboom, A. Jeannette M.;
- Lohmann, Dietmar R.;
- Hehr, Ute;
- Dixon, Michael J.;
- Breuning, Martijn H.;
- Wieczorek, Dagmar
Publication type:
Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Published in:
Human Genetics, 2012, v. 131, n. 11, p. 1761, doi. 10.1007/s00439-012-1197-8
By:
- Fischer, Björn;
- Dimopoulou, Aikaterini;
- Egerer, Johannes;
- Gardeitchik, Thatjana;
- Kidd, Alexa;
- Jost, Dominik;
- Kayserili, Hülya;
- Alanay, Yasemin;
- Tantcheva-Poor, Iliana;
- Mangold, Elisabeth;
- Daumer-Haas, Cornelia;
- Phadke, Shubha;
- Peirano, Reto;
- Heusel, Julia;
- Desphande, Charu;
- Gupta, Neerja;
- Nanda, Arti;
- Felix, Emma;
- Berry-Kravis, Elisabeth;
- Kabra, Madhulika
Publication type:
Article
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 555, doi. 10.1007/s00439-010-0797-4
By:
- Hehr, Ute;
- Pineda-Alvarez, Daniel E.;
- Uyanik, Goekhan;
- Ping Hu;
- Zhou, Nan;
- Hehr, Andreas;
- Schell-Apacik, Chayim;
- Altus, Carola;
- Daumer-Haas, Cornelia;
- Meiner, Annechristin;
- Steuernagel, Peter;
- Roessler, Erich;
- Winkler, Juergen;
- Muenke, Maximilian
Publication type:
Article

Found: 6

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.

Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.