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The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders
Author / Creator:Bacon, Claire ; Rappold, Gudrun A.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2012-11, Vol.131 (11), p.1687-1698
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Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity
Author / Creator:Francelle, Laetitia ; Outeiro, Tiago F. ; Rappold, Gudrun A.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-04, Vol.10 (1), p.6064, Article 6064
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Author / Creator:Berkel, Simone ; Marshall, Christian R ; Weiss, Birgit ; Howe, Jennifer ; Roeth, Ralph ; Moog, Ute ; Endris, Volker ; Roberts, Wendy ; Szatmari, Peter ; Pinto, Dalila ; Bonin, Michael ; Riess, Angelika ; Engels, Hartmut ; Sprengel, Rolf ; Scherer, Stephen W ; Rappold, Gudrun A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-06, Vol.42 (6), p.489-491
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Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex
Author / Creator:Li, Xue ; Xiao, Jian ; Fröhlich, Henning ; Tu, Xiaomeng ; Li, Lianlian ; Xu, Yue ; Cao, Huateng ; Qu, Jia ; Rappold, Gudrun A. ; Chen, Jie-Guang
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-05, Vol.10 (5), p.e0127671-e0127671
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Height matters—from monogenic disorders to normal variation
Author / Creator:Durand, Claudia ; Rappold, Gudrun A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2013-03, Vol.9 (3), p.171-177
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SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells
Author / Creator:Unsicker, Christine ; Cristian, Flavia-Bianca ; von Hahn, Manja ; Eckstein, Volker ; Rappold, Gudrun A. ; Berkel, Simone
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-01, Vol.11 (1), p.2128-2128, Article 2128
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Parkinson mice show functional and molecular changes in the gut long before motoric disease onset
Author / Creator:Gries, Manuela ; Christmann, Anne ; Schulte, Steven ; Weyland, Maximilian ; Rommel, Stephanie ; Martin, Monika ; Baller, Marko ; Röth, Ralph ; Schmitteckert, Stefanie ; Unger, Marcus ; Liu, Yang ; Sommer, Frederik ; Mühlhaus, Timo ; Schroda, Michael ; Timmermans, Jean-Pierre ; Pintelon, Isabel ; Rappold, Gudrun A. ; Britschgi, Markus ; Lashuel, Hilal ; Menger, Michael D. ; Laschke, Matthias W. ; Niesler, Beate ; Schäfer, Karl-Herbert
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2021-06, Vol.16 (1), p.34-34, Article 34
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Author / Creator:Werren, Elizabeth A. ; Peirent, Emily R. ; Jantti, Henna ; Guxholli, Alba ; Srivastava, Kinshuk Raj ; Orenstein, Naama ; Narayanan, Vinodh ; Wiszniewski, Wojciech ; Dawidziuk, Mateusz ; Gawlinski, Pawel ; Umair, Muhammad ; Khan, Amjad ; Khan, Shahid Niaz ; Geneviève, David ; Lehalle, Daphné ; van Gassen, K. L. I. ; Giltay, Jacques C. ; Oegema, Renske ; van Jaarsveld, Richard H. ; Rafiullah, Rafiullah ; Rappold, Gudrun A. ; Rabin, Rachel ; Pappas, John G. ; Wheeler, Marsha M. ; Bamshad, Michael J. ; Tsan, Yao-Chang ; Johnson, Matthew B. ; Keegan, Catherine E. ; Srivastava, Anshika ; Bielas, Stephanie L.
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-05, Vol.15 (5), p.379-15, Article 379
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Sex Hormones Regulate SHANK Expression
Author / Creator:Berkel, Simone ; Eltokhi, Ahmed ; Fröhlich, Henning ; Porras-Gonzalez, Diana ; Rafiullah, Rafiullah ; Sprengel, Rolf ; Rappold, Gudrun A.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2018-09, Vol.11, p.337-337
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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Author / Creator:Mederer, Tanja ; Schmitteckert, Stefanie ; Volz, Julia ; Martínez, Cristina ; Röth, Ralph ; Thumberger, Thomas ; Eckstein, Volker ; Scheuerer, Jutta ; Thöni, Cornelia ; Lasitschka, Felix ; Carstensen, Leonie ; Günther, Patrick ; Holland-Cunz, Stefan ; Hofstra, Robert ; Brosens, Erwin ; Rosenfeld, Jill A. ; Schaaf, Christian P. ; Schriemer, Duco ; Ceccherini, Isabella ; Rusmini, Marta ; Tilghman, Joseph ; Luzón-Toro, Berta ; Torroglosa, Ana ; Borrego, Salud ; Sze-man Tang, Clara ; Garcia-Barceló, Mercè ; Tam, Paul ; Paramasivam, Nagarajan ; Bewerunge-Hudler, Melanie ; De La Torre, Carolina ; Gretz, Norbert ; Rappold, Gudrun A. ; Romero, Philipp ; Niesler, Beate
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-11, Vol.16 (11), p.e1009106-e1009106
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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
Author / Creator:Simm, Franziska ; Griesbeck, Anne ; Choukair, Daniela ; Weiß, Birgit ; Paramasivam, Nagarajan ; Klammt, Jürgen ; Schlesner, Matthias ; Wiemann, Stefan ; Martinez, Cristina ; Hoffmann, Georg F. ; Pfäffle, Roland W. ; Bettendorf, Markus ; Rappold, Gudrun A.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-07, Vol.20 (7), p.728-736
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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Author / Creator:Montalbano, Antonino ; Juergensen, Lonny ; Fukami, Maki ; Thiel, Christian T ; Hauer, Nadine H ; Roeth, Ralph ; Weiss, Birgit ; Naiki, Yasuhiro ; Ogata, Tsutomu ; Hassel, David ; Rappold, Gudrun A.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1113-1120
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Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants
Author / Creator:Khan, Amjad ; Miao, Zhichao ; Umair, Muhammad ; Ullah, Amir ; Alshabeeb, Mohammad A. ; Bilal, Muhammad ; Ahmad, Farooq ; Rappold, Gudrun A. ; Ansar, Muhammad ; Carapito, Raphael
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-08, Vol.11 (9), p.1021
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Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability
Author / Creator:Mittal, Kirti ; Rafiq, Muhammad A ; Rafiullah, Rafiullah ; Harripaul, Ricardo ; Ali, Hazrat ; Ayaz, Muhammad ; Aslam, Muhammad ; Naeem, Farooq ; Amin-ud-din, Muhammad ; Waqas, Ahmed ; So, Joyce ; Rappold, Gudrun A ; Vincent, John B ; Ayub, Muhammad
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-10, Vol.61 (10), p.867-872
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A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders
Author / Creator:de Sena Cortabitarte, Ana ; Berkel, Simone ; Cristian, Flavia-Bianca ; Fischer, Christine ; Rappold, Gudrun A.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2018-04, Vol.10 (1), p.15-11, Article 15
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Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder
Author / Creator:Niesler, Beate ; Rappold, Gudrun A.
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2021-05, Vol.26 (5), p.1442-1444
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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Author / Creator:Montalbano, Antonino ; Juergensen, Lonny ; Roeth, Ralph ; Weiss, Birgit ; Fukami, Maki ; Fricke‐Otto, Susanne ; Binder, Gerhard ; Ogata, Tsutomu ; Decker, Eva ; Nuernberg, Gudrun ; Hassel, David ; Rappold, Gudrun A
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2016-12, Vol.8 (12), p.1455-1469
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Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model
Author / Creator:Beiser, Katja U. ; Glaser, Anne ; Kleinschmidt, Kerstin ; Scholl, Isabell ; Röth, Ralph ; Li, Li ; Gretz, Norbert ; Mechtersheimer, Gunhild ; Karperien, Marcel ; Marchini, Antonio ; Richter, Wiltrud ; Rappold, Gudrun A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-06, Vol.9 (6), p.e98543-e98543
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Europe’s Roma people are vulnerable to poor practice in genetics
Author / Creator:Lipphardt, Veronika ; Surdu, Mihai ; Ellebrecht, Nils ; Pfaffelhuber, Peter ; Wienroth, Matthias ; Rappold, Gudrun A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2021-11, Vol.599 (7885), p.368-371
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Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome
Author / Creator:Wang, Jing ; Fröhlich, Henning ; Torres, Felipe Bodaleo ; Silva, Rangel Leal ; Poschet, Gernot ; Agarwal, Amit ; Rappold, Gudrun A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2022-02, Vol.119 (8), p.1-11
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Showing 1 to 20 of 61 results

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The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

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Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

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Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex

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Height matters—from monogenic disorders to normal variation

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SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

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Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

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Sex Hormones Regulate SHANK Expression

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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

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Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

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Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

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A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

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Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder

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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

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Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model

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Europe’s Roma people are vulnerable to poor practice in genetics

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Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

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