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Author/Creator Assmann, Birgit

1. Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!. Issue 11 (13th September 2016)

Authors:
Klein, Christine; Lang, Anthony; van de Warrenburg, Bart P.; Sue, Carolyn M.; Tabrizi, Sarah J.; Bertram, Lars; Mercimek‐Mahmutoglu, Saadet; Ebrahimi‐Fakhari, Darius; Warner, Thomas T.; Durr, Alexandra; Assmann, Birgit; Kostic, Vladimir; Lohmann, Katja; Marras, Connie
Journal:
Movement disorders
Issue:
Volume 31:Issue 11(2016)
Page Start:
1760
Record Type:
Journal Article
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2. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Issue 1 (16th November 2016)

Authors:
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Rol...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 1(2017)
Page Start:
75
Record Type:
Journal Article
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3. Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow‐up parameters. Issue 3 (13th September 2012)

Authors:
Boy, Nikolas; Haege, Gisela; Heringer, Jana; Assmann, Birgit; Mühlhausen, Chris; Ensenauer, Regina; Maier, Esther M.; Lücke, Thomas; Hoffmann, Georg F.; Müller, Edith; Burgard, Peter; Kölker, Stefan
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 3(2013)
Page Start:
525
Record Type:
Journal Article
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4. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. Issue 5 (May 2017)

Authors:
Marras, Connie; Lang, Anthony; van de Warrenburg, Bart P.; Sue, Carolyn M.; Tabrizi, Sarah J.; Bertram, Lars; Mercimek-Mahmutoglu, Saadet; Ebrahimi-Fakhari, Darius; Warner, Thomas T.; Durr, Alexandra; Assmann, Birgit; Lohmann, Katja; Kostic, Vladimir; Klein, Christine
Other Names:
Silber Michael H. guestEditor.; Iranzo Alex guestEditor.
Journal:
Movement disorders
Issue:
Volume 32:Issue 5(2017)
Page Start:
724
Record Type:
Journal Article
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5. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. Issue 7 (10th May 2017)

Authors:
Evers, Christina; Seitz, Angelika; Assmann, Birgit; Opladen, Thomas; Karch, Stephanie; Hinderhofer, Katrin; Granzow, Martin; Paramasivam, Nagarajan; Eils, Roland; Diessl, Nicolle; Bartram, Claus R.; Moog, Ute
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1878
Record Type:
Journal Article
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6. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020)

Authors:
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,...
Journal:
Lancet neurology
Issue:
Volume 19:Issue 11(2020)
Page Start:
908
Record Type:
Journal Article
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8. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Issue 4 (15th April 2016)

Authors:
Marras, Connie; Lang, Anthony; van de Warrenburg, Bart P.; Sue, Carolyn M.; Tabrizi, Sarah J.; Bertram, Lars; Mercimek‐Mahmutoglu, Saadet; Ebrahimi‐Fakhari, Darius; Warner, Thomas T.; Durr, Alexandra; Assmann, Birgit; Lohmann, Katja; Kostic, Vladimir; Klein, Christine
Journal:
Movement disorders
Issue:
Volume 31:Issue 4(2016)
Page Start:
436
Record Type:
Journal Article
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9. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Issue 1 (December 2017)

Authors:
Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip; Lee, Wang; Kurian, Manju; Heales, Simon; Flint, Lisa; Verbeek, Marcel;...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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