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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Autor: Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin, Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Volume 22
Issue 12
International Journal of Molecular Sciences, Vol 22, Iss 6410, p 6410 (2021)

Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2a10189d5f7f7352678f7bd9d52af7bb
https://hal.sorbonne-universite.fr/hal-03278573/document

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A new phenotype?

Autor: Carstens, Per-Ole, Schwaibold, Eva Maria Christina, Schregel, Katharina, Obermaier, Carolin D., Wrede, Arne, Zechel, Sabrina, Pauli, Silke, Schmidt, Jens

Publikováno v: Neurology: Genetics

X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax, d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::17d133108de450811ed7d121577d8f1d
http://europepmc.org/articles/PMC6515939

Identification of the underlying mechanism of the c.192G>C mutation in the DJ-1 gene and functional characterisation in patient-based cellular models of Parkinson’s disease ex vivo

Autor: Obermaier, Carolin Dominique

Parkinson’s disease (PD) is the second most common neurodegenerative disease and characterised by a progressive loss of dopaminergic neurons in the substantia nigra pars compacta and in other brain regions. Homozygous loss-of-function mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1354b4fa40ae6b699571c38ffeadbfea
https://hdl.handle.net/10900/64912