Search Results - Assmann, Birgit

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  1. 1
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    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency by Julià-Palacios, Natalia (Author) , Kuseyri Hübschmann, Oya (Author) , Olivella, Mireia (Author) , Pons, Roser (Author) , Horvath, Gabriella (Author) , Lücke, Thomas (Author) , Fung, Cheuk-Wing (Author) , Wong, Suet-Na (Author) , Cortès-Saladelafont, Elisenda (Author) , Rovira-Remisa, M. Mar (Author) , Yıldız, Yılmaz (Author) , Mercimek-Andrews, Saadet (Author) , Assmann, Birgit (Author) , Stevanović, Galina (Author) , Manti, Filippo (Author) , Brennenstuhl, Heiko (Author) , Jung-Klawitter, Sabine (Author) , Jeltsch, Kathrin (Author) , Sivri, H. Serap (Author) , Garbade, Sven (Author) , García-Cazorla, Àngels (Author) , Opladen, Thomas (Author) ,


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  2. 2
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    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 by Saffari, Afshin (Author) , Kellner, Melanie (Author) , Jordan, Catherine (Author) , Rosengarten, Helena (Author) , Mo, Alisa (Author) , Zhang, Bo (Author) , Strelko, Oleksandr (Author) , Neuser, Sonja Anna (Author) , Davis, Marie Y (Author) , Yoshikura, Nobuaki (Author) , Futamura, Naonobu (Author) , Takeuchi, Tomoya (Author) , Nabatame, Shin (Author) , Ishiura, Hiroyuki (Author) , Tsuji, Shoji (Author) , Aldeen, Huda Shujaa (Author) , Cali, Elisa (Author) , Rocca, Clarissa (Author) , Houlden, Henry (Author) , Efthymiou, Stephanie (Author) , Assmann, Birgit (Author) , Yoon, Grace (Author) , Trombetta, Bianca A (Author) , Kivisäkk, Pia (Author) , Eichler, Florian (Author) , Nan, Haitian (Author) , Takiyama, Yoshihisa (Author) , Tessa, Alessandra (Author) , Santorelli, Filippo M (Author) , Sahin, Mustafa (Author) , Blackstone, Craig (Author) , Yang, Edward (Author) , Schüle-Freyer, Rebecca (Author) , Ebrahimi-Fakhari, Darius (Author) ,


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  3. 3
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    β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity by Dobritzsch, Doreen (Author) , Meijer, Judith (Author) , Meinsma, Rutger (Author) , Maurer, Dirk (Author) , Monavari, Ardeshir A. (Author) , Gummesson, Anders (Author) , Reims, Annika (Author) , Cayuela, Jorge A. (Author) , Kuklina, Natalia (Author) , Benoist, Jean-François (Author) , Perrin, Laurence (Author) , Assmann, Birgit (Author) , Hoffmann, Georg F. (Author) , Bierau, Jörgen (Author) , Kaindl, Angela M. (Author) , van Kuilenburg, André B. P. (Author) ,


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  4. 4
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    Early-onset phenotype of bi-allelic GRN mutations by Neuray, Caroline (Author) , Sultan, Tipu (Author) , Alvi, Javeira Raza (Author) , Franca, Marcondes C, Jr (Author) , Assmann, Birgit (Author) , Wagner, Matias (Author) , Canafoglia, Laura (Author) , Franceschetti, Silvana (Author) , Rossi, Giacomina (Author) , Santana, Isabel (Author) , Macario, Maria C (Author) , Almeida, Maria R (Author) , Kamate, Mahesh (Author) , Parikh, Sumit (Author) , Elloumi, Houda Zghal (Author) , Murphy, David (Author) , Efthymiou, Stephanie (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) ,


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  5. 5
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    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Kuseyri Hübschmann, Oya (Author) , Horvath, Gabriella (Author) , Cortès-Saladelafont, Elisenda (Author) , Yıldız, Yılmaz (Author) , Pons, Roser (Author) , Friedman, Jennifer (Author) , Mercimek-Andrews, Saadet (Author) , Wong, Suet-Na (Author) , Pearson, Toni S. (Author) , Zafeiriou, Dimitrios I. (Author) , Kulhánek, Jan (Author) , Kurian, Manju A. (Author) , López-Laso, Eduardo (Author) , Oppebøen, Mari (Author) , Kılavuz, Sebile (Author) , Wassenberg, Tessa (Author) , Goez, Helly (Author) , Scholl-Bürgi, Sabine (Author) , Porta, Francesco (Author) , Honzík, Tomáš (Author) , Santer, René (Author) , Burlina, Alberto (Author) , Sivri, H. Serap (Author) , Leuzzi, Vincenzo (Author) , Hoffmann, Georg F. (Author) , Jeltsch, Kathrin (Author) , Hübschmann, Daniel (Author) , Garbade, Sven F. (Author) , Assmann, Birgit (Author) , Fung, Cheuk-Wing (Author) , Guder, Philipp (Author) , Hong, Stacey Tay Kiat (Author) , Karall, Daniela (Author) , Kato, Mitsuhiro (Author) , Kavecan, Ivana (Author) , Koht, Jeanette Aimee (Author) , Kuster, Alice (Author) , Lücke, Thomas (Author) , Manti, Filippo (Author) , Mir, Pablo (Author) , Mühlhausen, Chris (Author) , Önenli Mungan, Halise Neslihan (Author) , Palacios, Natalia Alexandra Julia (Author) , Ramos, Joaquín Alejandro Fernández (Author) , Steel, Dora (Author) , Stevanović, Galina (Author) , Sykut-Cegielska, Jolanta (Author) , Verbeek, Marcel M. (Author) , García-Cazorla, Angeles (Author) , Opladen, Thomas (Author) ,


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  6. 6
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    Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec by Opladen, Thomas (Author) , Brennenstuhl, Heiko (Author) , Kuseyri Hübschmann, Oya (Author) , Call, Debora (Author) , Green, Kim (Author) , Schara, Ulrike (Author) , Rascher, Wolfgang (Author) , Hövel, Annegret (Author) , Assmann, Birgit (Author) , Kölker, Stefan (Author) , Westhoff, Jens (Author) , Walter, Magdalena (Author) , Ziegler, Andreas (Author) , Hoffmann, Georg F. (Author) , Kiening, Karl (Author) ,


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  7. 7
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    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  8. 8
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    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  9. 9
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    Succinic semialdehyde dehydrogenase deficiency: in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 by Brennenstuhl, Heiko (Author) , Didiášová, Miroslava (Author) , Assmann, Birgit (Author) , Bertoldi, Mariarita (Author) , Molla, Gianluca (Author) , Jung-Klawitter, Sabine (Author) , Kuseyri Hübschmann, Oya (Author) , Schröter, Julian (Author) , Opladen, Thomas (Author) , Tikkanen, Ritva (Author) ,


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  10. 10
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    Monogenic variants in dystonia: an exome-wide sequencing study by Zech, Michael (Author) , Wolf, Marc (Author) , Assmann, Birgit (Author) , Staufner, Christian (Author) , Opladen, Thomas (Author) ,


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  11. 11
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    Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment by Brennenstuhl, Heiko (Author) , Jung-Klawitter, Sabine (Author) , Assmann, Birgit (Author) , Opladen, Thomas (Author) ,


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  12. 12
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    Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia by Dafsari, Hormos Salimi (Author) , Sprute, Rosanne (Author) , Wunderlich, Gilbert (Author) , Daimagüler, Hülya-Sevcan (Author) , Karaca, Ezgi (Author) , Contreras, Adriana (Author) , Becker, Kerstin (Author) , Schulze-Rhonhof, Mira (Author) , Kiening, Karl (Author) , Karakulak, Tülay (Author) , Kloss, Manja (Author) , Horn, Annette (Author) , Pauls, Amande (Author) , Nürnberg, Peter (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Assmann, Birgit (Author) , Koy, Anne (Author) , Cirak, Sebahattin (Author) ,


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  13. 13
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    Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia by Dafsari, Hormos Salimi (Author) , Sprute, Rosanne (Author) , Wunderlich, Gilbert (Author) , Daimagüler, Hülya-Sevcan (Author) , Karaca, Ezgi (Author) , Contreras, Adriana (Author) , Becker, Kerstin (Author) , Schulze-Rhonhof, Mira (Author) , Kiening, Karl (Author) , Karakulak, Tülay (Author) , Kloss, Manja (Author) , Horn, Annette (Author) , Pauls, Amande (Author) , Nürnberg, Peter (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Assmann, Birgit (Author) , Koy, Anne (Author) , Cirak, Sebahattin (Author) ,


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  14. 14
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    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency by Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Hoffmann, Georg F. (Author) , Assmann, Birgit (Author) , Blau, Nenad (Author) , Opladen, Thomas (Author) ,


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  15. 15
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    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision by Boy, Nikolas (Author) , Heringer-Seifert, Jana (Author) , Assmann, Birgit (Author) , Burgard, Peter (Author) , Harting, Inga (Author) , Hoffmann, Georg F. (Author) , Okun, Jürgen G. (Author) , Opladen, Thomas (Author) , Posset, Roland (Author) , Sahm, Katja (Author) , Kölker, Stefan (Author) ,


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  16. 16
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    A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia by Lange, Lara (Author) , Assmann, Birgit (Author) ,


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  17. 17
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    Diagnosis of CoPAN by whole exome sequencing: waking up a sleeping tiger's eye by Evers, Christina (Author) , Seitz, Angelika (Author) , Assmann, Birgit (Author) , Opladen, Thomas (Author) , Karch, Stephanie (Author) , Hinderhofer, Katrin (Author) , Granzow, Martin (Author) , Paramasivam, Nagarajan (Author) , Eils, Roland (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author) ,


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  18. 18
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    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency by Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Hoffmann, Georg F. (Author) , Assmann, Birgit (Author) , Blau, Nenad (Author) , Opladen, Thomas (Author) ,

    BioMed Central 18 January 2017

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  19. 19
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    Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy by Colin, Estelle (Author) , Assmann, Birgit (Author) , Christ, Stine (Author) , Hoffmann, Georg F. (Author) ,


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  20. 20
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    Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force by Marras, Connie (Author) , Lang, Anthony (Author) , Warrenburg, Bart P. van de (Author) , Sue, Carolyn M. (Author) , Tabrizi, Sarah J. (Author) , Bertram, Lars (Author) , Mercimek‐Mahmutoglu, Saadet (Author) , Ebrahimi-Fakhari, Darius (Author) , Warner, Thomas T. (Author) , Durr, Alexandra (Author) , Assmann, Birgit (Author) , Lohmann, Katja (Author) , Kostic, Vladimir (Author) , Klein, Christine (Author) ,


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