Search Results - "Hehr, Ute"

International consensus recommendations on the diagnostic work-up for malformations of cortical development by 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

“…Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place…”
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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons by 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

“…Huntington’s disease (HD) is a neurodegenerative disorder caused by poly-Q expansion in the Huntingtin (HTT) protein. Here, we delineate elevated mutant HTT…”
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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy by Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T, Popp, Bernt

“…The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main…”
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Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance by Gökdere, Sare, Schneider, Holm, Hehr, Ute, Willen, Laure, Schneider, Pascal, Maier-Wohlfart, Sigrun

“…Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition…”
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A by 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

“…Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns…”
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome 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

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
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Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells by 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

“…Induced pluripotent stem (iPS) cells have an enormous potential for physiological studies. A novel protocol was developed combining the derivation of iPS from…”
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Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood by Dadak, Mete, Pul, Refik, Lanfermann, Heinrich, Hartmann, Hans, Hehr, Ute, Donnerstag, Frank, Michels, Dirk, Tryc, Anita Blanka

“…Purpose The brain imaging findings in children with neurological complications associated with influenza A infections are presented and analyzed and…”
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders by 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

“…The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1-related disorders belong to the…”
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Further evidence for POMK as candidate gene for WWS with meningoencephalocele by 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

“…Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes…”
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Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease by 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

“…Genetic variants of GBA1 can cause the lysosomal storage disorder Gaucher disease and are among the highest genetic risk factors for Parkinson's disease (PD)…”
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Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation by Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia, Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute, Smitka, Martin

“…Abstract Acute necrotizing encephalopathy (ANE) is a rare disease presenting with rapidly progressing encephalopathy. It usually occurs in otherwise healthy…”
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Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression by 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

“…•We present an unusual case of a young COVID-19 patient presenting with hyperinflammation and severe liver injury.•The underlying causative events were sHLH,…”
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Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D by Mächtel, Rebecca, Dobert, Jan‐Philipp, Hehr, Ute, Weiss, Alexander, Kettwig, Matthias, Laugwitz, Lucia, Groeschel, Samuel, Schmidt, Manuel, Arnold, Philipp, Regensburger, Martin, Zunke, Friederike

“…Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset…”
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Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10 by Kurz, Bernadett, Koschitzki, Kevin-Thomas, Hehr, Ute, Germer, Ute, Schreml, Julia, Langhammer, Florian, Schreml, Stephan

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LIS1 -associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs by 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

“…Abstract Background Patients with LIS1 -associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy…”
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CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review by Müller, Sebastian J, Khadhraoui, Eya, Allam, Ibrahim, Argyriou, Loukas, Hehr, Ute, Liman, Jan, Hasenfuß, Gerd, Bähr, Mathias, Riedel, Christian H, Koch, Jan C

“…Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive…”
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Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia by 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

“…Objective Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of neurodegenerative disorders resulting in progressive spasticity of the lower…”
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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly by Muenke, Maximilian, Wallis, Deeann E, Roessler, Erich, Hehr, Ute, Nanni, Luisa, Wiltshire, Tim, Richieri-Costa, Antonio, Gillessen-Kaesbach, Gabriele, Zackai, Elaine H, Rommens, Johanna

“…Holoprosencephaly (HPE) is a common, severe malformation of the brain that involves separation of the central nervous system into left and right halves. Mild…”
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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease by 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

“…Muscle-eye-brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural…”
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