Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Silvia Lindlar"'
Autor:
Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Abstract Objective The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing
Externí odkaz:
https://doaj.org/article/4fb452d9a8a04925b6c0834c25eac553
Autor:
Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K. Lim, Meng-Miao Tsai, Boyan K. Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J. Guillemin, Simone Fulda, Christine M. Freitag, Andreas G. Chiocchetti
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-17 (2018)
Abstract Background Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. Of the 29 genes withi
Externí odkaz:
https://doaj.org/article/ce0cb06f639d43dd818685fcf52ff225
Autor:
Sarah Martin, Adam Strzelczyk, Silvia Lindlar, Kristina Krause, Philipp S. Reif, Katja Menzler, Andreas G. Chiocchetti, Felix Rosenow, Susanne Knake, Karl Martin Klein
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus ep
Externí odkaz:
https://doaj.org/article/fdcb6be1b505437c8cb9367ba78e47de
Autor:
Sophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
OBJECTIVE: The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ab6a82573bccbe0b148f2e820a5a7b
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
Autor:
L de la Torre-Ubieta, T Rothämel, Enrico Cocchi, Andreas G. Chiocchetti, Denise Haslinger, Regina Waltes, Christine M. Freitag, Simone Fulda, Daniel H. Geschwind, Silvia Lindlar, Jason L. Stein
Publikováno v:
Translational psychiatry, vol 6, iss 8
Translational Psychiatry
Translational Psychiatry
Genes for autism spectrum disorders (ASDs) are also implicated in fragile X syndrome (FXS), intellectual disabilities (ID) or schizophrenia (SCZ), and converge on neuronal function and differentiation. The SH-SY5Y neuroblastoma cell line, the most wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf1502f9cbff24dd301a7979c36d56
https://escholarship.org/uc/item/7zz3f8gb
https://escholarship.org/uc/item/7zz3f8gb
Autor:
Martin Schulte-Rüther, Anette Voran, Sven Cichon, Denise Haslinger, Sabine M. Klauck, Regina Waltes, Markus M. Nöthen, Andreas G. Chiocchetti, Ina Koch, Silvia Lindlar, Eftichia Duketis, Stephan Kupferschmid, Jörg Ackermann, Michael Sachse, Christine M. Freitag, Monica Biscaldi
Publikováno v:
European Neuropsychopharmacology. 27:S375-S376
Background Autism spectrum disorders (ASD) are a group of genetically and phenotypically heterogeneous neurodevelopmental disorders. Common genetic variants are currently estimated to account for over 50% of ASD liability, and are also suggested to c
Autor:
Guillaume Huguet, Tomasz A. Jarczok, Christine M. Freitag, Jobst Meyer, Sven Bölte, Anette Voran, Michael Sachse, Gabriele Schmötzer, Sabine M. Klauck, Sabine Schlitt, Tina Kleinböck, Thomas Bourgeron, Laura M. Kämpfer, Regina Waltes, Eftichia Duketis, Richard Anney, Michael Knapp, Ellen Huy, Fritz Poustka, Andreas G. Chiocchetti
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, Springer Verlag, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
International audience; Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910dc5b6317dc7490dc60cbef7f6dc18
https://hal-pasteur.archives-ouvertes.fr/pasteur-01579800
https://hal-pasteur.archives-ouvertes.fr/pasteur-01579800