International consensus recommendations on the diagnostic work-up for malformations of cortical development
Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E, Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M, Zaki, Maha S, Mirzaa, Ghayda, Dobyns, William B, Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T, Hehr, Ute, Leventer, Richard J, Jansen, Anna C, Mancini, Grazia M S, Di Donato, Nataliya
Published in Nature reviews. Neurology (01.11.2020)
Published in Nature reviews. Neurology (01.11.2020)
Get full text
Journal Article
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons
Krach, Florian, Stemick, Judith, Boerstler, Tom, Weiss, Alexander, Lingos, Ioannis, Reischl, Stephanie, Meixner, Holger, Ploetz, Sonja, Farrell, Michaela, Hehr, Ute, Kohl, Zacharias, Winner, Beate, Winkler, Juergen
Published in Nature communications (10.11.2022)
Published in Nature communications (10.11.2022)
Get full text
Journal Article
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T, Popp, Bernt
Published in Orphanet journal of rare diseases (11.02.2019)
Published in Orphanet journal of rare diseases (11.02.2019)
Get full text
Journal Article
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
Gökdere, Sare, Schneider, Holm, Hehr, Ute, Willen, Laure, Schneider, Pascal, Maier-Wohlfart, Sigrun
Published in Frontiers in genetics (18.07.2022)
Published in Frontiers in genetics (18.07.2022)
Get full text
Journal Article
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
Get full text
Journal Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
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
Published in Nature genetics (01.01.2011)
Published in Nature genetics (01.01.2011)
Get full text
Journal Article
Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells
Fuerstenau-Sharp, Maya, Zimmermann, Martina E, Stark, Klaus, Jentsch, Nico, Klingenstein, Melanie, Drzymalski, Marzena, Wagner, Stefan, Maier, Lars S, Hehr, Ute, Baessler, Andrea, Fischer, Marcus, Hengstenberg, Christian
Published in PloS one (13.05.2015)
Published in PloS one (13.05.2015)
Get full text
Journal Article
Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood
Dadak, Mete, Pul, Refik, Lanfermann, Heinrich, Hartmann, Hans, Hehr, Ute, Donnerstag, Frank, Michels, Dirk, Tryc, Anita Blanka
Published in Clinical neuroradiology (Munich) (01.06.2020)
Published in Clinical neuroradiology (Munich) (01.06.2020)
Get full text
Journal Article
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike
Published in Orphanet journal of rare diseases (16.07.2019)
Published in Orphanet journal of rare diseases (16.07.2019)
Get full text
Journal Article
Further evidence for POMK as candidate gene for WWS with meningoencephalocele
Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J, Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma
Published in Orphanet journal of rare diseases (09.09.2020)
Published in Orphanet journal of rare diseases (09.09.2020)
Get full text
Journal Article
Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease
Dobert, Jan Philipp, Bub, Simon, Mächtel, Rebecca, Januliene, Dovile, Steger, Lisa, Regensburger, Martin, Wilfling, Sibylle, Chen, Jia‐Xuan, Dejung, Mario, Plötz, Sonja, Hehr, Ute, Moeller, Arne, Arnold, Philipp, Zunke, Friederike
Published in Advanced science (01.07.2024)
Published in Advanced science (01.07.2024)
Get full text
Journal Article
Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation
Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia, Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute, Smitka, Martin
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Get full text
Journal Article
Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression
Lubnow, Matthias, Schmidt, Barbara, Fleck, Martin, Salzberger, Bernd, Müller, Thomas, Peschel, Georg, Schneckenpointner, Roland, Lange, Tobias, Hitzenbichler, Florian, Kieninger, Martin, Lunz, Dirk, Graf, Bernhard, Brochhausen, Christoph, Weber, Florian, Lüke, Florian, Peterhoff, David, Schuster, Philipp, Hiergeist, Andreas, Offner, Robert, Hehr, Ute, Wallner, Stefan, Hanses, Frank, Schmid, Stephan, Weigand, Kilian, Geismann, Florian, Poeck, Hendrik, Pukrop, Tobias, Evert, Matthias, Gessner, Andre, Burkhardt, Ralph, Herr, Wolfgang, Maier, Lars S., Heudobler, Daniel
Published in International journal of infectious diseases (01.02.2021)
Published in International journal of infectious diseases (01.02.2021)
Get full text
Journal Article
Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D
Mächtel, Rebecca, Dobert, Jan‐Philipp, Hehr, Ute, Weiss, Alexander, Kettwig, Matthias, Laugwitz, Lucia, Groeschel, Samuel, Schmidt, Manuel, Arnold, Philipp, Regensburger, Martin, Zunke, Friederike
Published in Annals of clinical and translational neurology (01.07.2024)
Published in Annals of clinical and translational neurology (01.07.2024)
Get full text
Journal Article
LIS1 -associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs
Herbst, Saskia M, Proepper, Christiane R, Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J, Schuierer, Gerhard, Hehr, Ute
Published in Brain & development (Tokyo. 1979) (01.04.2016)
Published in Brain & development (Tokyo. 1979) (01.04.2016)
Get full text
Journal Article
CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review
Müller, Sebastian J, Khadhraoui, Eya, Allam, Ibrahim, Argyriou, Loukas, Hehr, Ute, Liman, Jan, Hasenfuß, Gerd, Bähr, Mathias, Riedel, Christian H, Koch, Jan C
Published in Clinical and Translational Neuroscience (01.01.2020)
Published in Clinical and Translational Neuroscience (01.01.2020)
Get full text
Book Review
Journal Article
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
Hehr, Ute, Bauer, Peter, Winner, Beate, Schule, Rebecca, Olmez, Akguen, Koehler, Wolfgang, Uyanik, Goekhan, Engel, Anna, Lenz, Daniela, Seibel, Andrea, Hehr, Andreas, Ploetz, Sonja, Gamez, Josep, Rolfs, Arndt, Weis, Joachim, Ringer, Thomas M., Bonin, Michael, Schuierer, Gerhard, Marienhagen, Joerg, Bogdahn, Ulrich, Weber, Bernhard H. F., Topaloglu, Haluk, Schols, Ludger, Riess, Olaf, Winkler, Juergen
Published in Annals of neurology (01.12.2007)
Published in Annals of neurology (01.12.2007)
Get full text
Journal Article
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Muenke, Maximilian, Wallis, Deeann E, Roessler, Erich, Hehr, Ute, Nanni, Luisa, Wiltshire, Tim, Richieri-Costa, Antonio, Gillessen-Kaesbach, Gabriele, Zackai, Elaine H, Rommens, Johanna
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
Get full text
Journal Article
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
HEHR, Ute, UYANIK, Goekhan, SCHUIERER, Gerhard, TOPALOGLU, Haluk, AIGNER, Ludwig, LOCHMÜLLER, Hanns, WINKLER, Jürgen, GROSS, Claudia, WALTER, Maggie C, BOHRING, Axel, COHEN, Monika, OEHL-JASCHKOWITZ, Barbara, BIRD, Lynne M, SHAMDEEN, Ghiat M, BOGDAHN, Ulrich
Published in Neurogenetics (01.11.2007)
Published in Neurogenetics (01.11.2007)
Get full text
Journal Article