Publications by authors named "Birgit Assmann"

Claim this Profile
C
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S Pearson, Birgit Assmann

J Inherit Metab Dis· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Birgit Assmann

Brain· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Gaofeng Zhu, Blaise Didry-Barca, Luis Seabra, Gillian I Rice, Carolina Uggenti, Birgit Assmann

Lancet Neurol· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horvath, Birgit Assmann

J Inherit Metab Dis· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-phenotype correlation and treatment effects in young patients with -associated disorders.
Moritz Thiel, Daniel Bamborschke, Wibke G Janzarik, Birgit Assmann, Simone Zittel

J Neurol Neurosurg Psychiatry· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Birgit Assmann

Brain· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Î
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A Monavari, Birgit Assmann

Mol Genet Metab· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Early-onset phenotype of bi-allelic GRN mutations.
Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C Franca, Birgit Assmann

Brain· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Monogenic variants in dystonia: an exome-wide sequencing study.
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Birgit Assmann

Lancet Neurol· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of .
Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla

Int J Mol Sci· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S Pearson, H Serap Sivri, Birgit Assmann

Orphanet J Rare Dis· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S Pearson, H Serap Sivri, Birgit Assmann

Orphanet J Rare Dis· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, Hülya-Sevcan Daimagüler, Ezgi Karaca, Birgit Assmann

J Hum Genet· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, Hülya-Sevcan Daimagüler, Ezgi Karaca, Birgit Assmann

J Hum Genet· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.
Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen

Neuropediatrics· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
Lara M Lange, Sinem Tunc, Stephanie Tennstedt, Alexander Münchau, Christine Klein, Birgit Assmann

Mov Disord· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch

Am J Med Genet A· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
Connie Marras, Anthony Lang, Bart P van de Warrenburg, Carolyn M Sue, Sarah J Tabrizi, Birgit Assmann

Mov Disord· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann

J Inherit Metab Dis· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann

Orphanet J Rare Dis· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
Christine Klein, Anthony Lang, Bart P van de Warrenburg, Carolyn M Sue, Sarah J Tabrizi, Birgit Assmann

Mov Disord· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Birgit Assmann

Am J Hum Genet· September 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Connie Marras, Anthony Lang, Bart P van de Warrenburg, Carolyn M Sue, Sarah J Tabrizi, Birgit Assmann

Mov Disord· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.
Darius Ebrahimi-Fakhari, Bianca Maas, Christian Haneke, Tim Niehues, Katrin Hinderhofer, Birgit E Assmann

Pediatr Neurol· January 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Child Neurology: PRRT2-associated movement disorders and differential diagnoses.
Darius Ebrahimi-Fakhari, Keun-Sun Kang, Urania Kotzaeridou, Juergen Kohlhase, Christine Klein, Birgit E Assmann

Neurology· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis