Search Results - "Reich, Selina"

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia by Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca

“…Alterations of Ca 2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca 2+ efflux from the endoplasmic reticulum into the…”
Get full text

Prominent Oncogenic Roles of EVI1 in Breast Carcinoma by Wang, Hui, Schaefer, Thorsten, Konantz, Martina, Braun, Martin, Varga, Zsuzsanna, Paczulla, Anna M, Reich, Selina, Jacob, Francis, Perner, Sven, Moch, Holger, Fehm, Tanja N, Kanz, Lothar, Schulze-Osthoff, Klaus, Lengerke, Claudia

“…Overexpression of the EVI1 oncogene is associated typically with aggressive myeloid leukemia, but is also detectable in breast carcinoma where its…”
Get full text

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans by Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.

Get full text

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias by Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D, Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A, Heinzmann, Anna, Horvath, Rita, de Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H, Santorelli, Filippo M, Schirinzi, Tommaso, Sival, Deborah A, Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, van de Warrenburg, Bart P, Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, Synofzik, Matthis

“…Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and…”
Get full text

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans by Collier, Jack J, Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M, Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M, Alsaif, Hessa S, Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A, Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S, Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G, Koenig, Michel, Taylor, Robert W

“…Autophagy is a cellular process through which toxic aggregates, pathogens, and damaged organelles are disposed of and essential metabolites recycled. This…”
Get full text

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease by Traschütz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M., Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A., Sturm, Marc, Haack, Tobias B., Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P., Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A. Nazli, Synofzik, Matthis

“…To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor…”
Get full text

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX) by Beichert, Lukas, Ilg, Winfried, Kessler, Christoph, Traschütz, Andreas, Reich, Selina, Santorelli, Filippo M., Başak, Ayşe Nazli, Gagnon, Cynthia, Schüle, Rebecca, Synofzik, Matthis

“…Background With treatment trials on the horizon, this study aimed to identify candidate digital‐motor gait outcomes for autosomal recessive spastic ataxia of…”
Get full text

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients by Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, Jonghe, Peter, Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Hélène, Synofzik, Matthis

“…Objective To foster trial‐readiness of coenzyme Q8A (COQ8A)‐ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A‐ataxia in a large…”
Get full text

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype by Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis

“…Background Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants…”
Get full text

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations by Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis

“…CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis…”
Get full text

CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells by Kizner, Valeria, Naujock, Maximilian, Fischer, Sandra, Jäger, Stefan, Reich, Selina, Schlotthauer, Ines, Zuckschwerdt, Kai, Geiger, Tobias, Hildebrandt, Tobias, Lawless, Nathan, Macartney, Thomas, Dorner-Ciossek, Cornelia, Gillardon, Frank

“…The human KCTD13 gene is located within the 16p11.2 locus and copy number variants of this locus are associated with a high risk for neuropsychiatric diseases…”
Get full text

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation by Fazal, Sarah, Danzi, Matt C, van Kuilenburg, André B P, Reich, Selina, Traschütz, Andreas, Bender, Benjamin, Leen, René, Toro, Camilo, Usdin, Karen, Hayward, Bruce, Adams, David R, van Karnebeek, Clara D M, Ferreira, Carlos R, D'Sousa, Precilla, Network, Undiagnosed Diseases, Tekin, Mustafa, Züchner, Stephan, Synofzik, Matthis

“…Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5'UTR of the glutaminase (GLS) gene…”
Get full text

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

“…The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes…”
Get full text

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family by Roeben, Benjamin, Schüle, Rebecca, Ruf, Susanne, Bender, Benjamin, Alhaddad, Bader, Benkert, Tanja, Meitinger, Thomas, Reich, Selina, Böhringer, Judith, Langhans, Claus-Dieter, Vaz, Frédéric M, Wortmann, Saskia B, Marquardt, Thorsten, Haack, Tobias B, Krägeloh-Mann, Ingeborg, Schöls, Ludger, Synofzik, Matthis

“…To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP)…”
Get more information

Abstract 2015: Novel oncogenic roles of EVI1 in breast carcinoma by Wang, Hui, Schaefer, Thorsten, Konantz, Martina, Reich, Selina, Braun, Martin, Perner, Sven, Varga, Zsuszanna, Moch, Holger, Fehm, Tanja, Kanz, Lothar, Schulze-Osthoff, Klaus, Lengerke, Claudia

“…Abstract Ecotropic viral integration site1 (EVI1) is a transcriptional regulator that is essential for the maintenance of hematopoietic stem cells and, when…”
Get full text

Abstract A45: EVI1 – a novel oncogene in breast carcinoma by Wang, Hui, Schäfer, Thorsten, Konantz, Martina, Reich, Selina, Braun, Martin, Perner, Sven, Varga, Zsuzsanna, Moch, Holger, Kanz, Lothar, Schulze-Osthoff, Klaus, Lengerke, Claudia

“…Abstract Ecotropic viral integration site 1 (EVI1) is a nuclear transcription factor essential for the maintenance of hematopoietic stem cells. Aberrant…”
Get full text

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

Get full text