Lack of sequence variations in THAP1 gene and THAP1 binding sites in TOR1A promotor of European DYT1 dystonia patients

Autor: Palada, V, Stirn, S, Glöckle, N, Gómez Garre, P, Carrillo, F, Mir, P, Szczaluba, K, Tinazzi, M, Ajena, D, Romani, M, Valente, Enza Maria, Müller, U, Riess, O, Ott, T, Grundmann, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c6d6e11dc8beb145c6ccea7f5c5e89b4
http://hdl.handle.net/11570/2366028

P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype

Autor: Dohrn, M.F., Glöckle, N., Mulahasanovic, L., Sprecher, A., Biskup, S., Claeys, K.G., Schulz, J.B., Gess, B.

Publikováno v: In Clinical Neurophysiology October 2017 128(10):e352-e352

A new mutation in enhanced S-cone syndrome.

Autor: Termühlen J; Department of Ophthalmology, University Medical Center, Muenster, Germany., Alex AF; Department of Ophthalmology, University Medical Center, Muenster, Germany., Glöckle N; CeGaT GmbH, Tuebingen, Germany., Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, Siegburg, Germany., Fiedler B; Department of Neuropediatrics, University Children's Hospital, Muenster, Germany., Eter N; Department of Ophthalmology, University Medical Center, Muenster, Germany., Uhlig CE; Department of Ophthalmology, University Medical Center, Muenster, Germany.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2018 Jun; Vol. 96 (4), pp. e539-e540. Date of Electronic Publication: 2016 Aug 29.

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.

Autor: Chan, Jacqueline¹ (AUTHOR), Holdstock, Jolyon¹ (AUTHOR), Shovelton, John¹ (AUTHOR), Reid, James¹ (AUTHOR), Speight, Graham¹ (AUTHOR), Molha, Duarte¹ (AUTHOR), Pullabhatla, Venu¹ (AUTHOR), Carpenter, Stephanie¹ (AUTHOR), Uddin, Ezam¹ (AUTHOR), Washio, Takanori^2,3 (AUTHOR), Sato, Hiroko² (AUTHOR), Izumi, Yuuki⁴ (AUTHOR), Watanabe, Reiko⁵ (AUTHOR), Niiro, Hayato⁵ (AUTHOR), Fukushima, Yoshiyuki⁵ (AUTHOR), Ashida, Naoko⁵ (AUTHOR), Hirose, Takashi⁵ (AUTHOR), Maeda, Akiko⁶ (AUTHOR) akiko.maeda@vcct.jp

Publikováno v: PLoS ONE. 6/13/2024, Vol. 19 Issue 6, p1-19. 19p.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Autor: Dohrn MF; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany., Glöckle N; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Mulahasanovic L; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Heller C; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Mohr J; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Bauer C; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Riesch E; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Becker A; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Battke F; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Hörtnagel K; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany., Hornemann T; Institute for Clinical Chemistry, University Hospital Zürich, Zurich, Switzerland., Suriyanarayanan S; Institute for Clinical Chemistry, University Hospital Zürich, Zurich, Switzerland., Blankenburg M; Department of Pediatric Neurology Klinikum Stuttgart, Olgahospital, Stuttgart, Germany.; Faculty of Health, Witten/Herdecke University, Witten, Germany., Schulz JB; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany., Claeys KG; Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium., Gess B; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany., Katona I; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany., Ferbert A; Department of Neurology, Klinikum Kassel, Kassel, Germany., Vittore D; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany., Grimm A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany., Wolking S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany., Schöls L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany., Korenke GC; Department of Neuropediatrics, Children's Hospital Oldenburg, Oldenburg, Germany., Fischer D; Department of Neurology, University of Basel Hospital, Basel, Switzerland., Schrank B; Department of Neurology, Deutsche Klinik für Diagnostik, Wiesbaden, Germany., Kotzaeridou U; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Germany., Kurlemann G; Department of Neuropediatrics, University Hospital Münster, Muenster, Germany., Dräger B; Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Muenster, Germany., Schirmacher A; Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Muenster, Germany., Young P; Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Muenster, Germany., Schlotter-Weigel B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany., Biskup S; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.

Publikováno v: Journal of neurochemistry [J Neurochem] 2017 Dec; Vol. 143 (5), pp. 507-522. Date of Electronic Publication: 2017 Nov 07.