Search Results - "Assmann, Birgit"

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Authors: Zech, Michael Dzinovic, Ivana Skorvanek, Matej et al.

Source: Brain: A Journal of Neurology; Aug2025, Vol. 148 Issue 8, p2827-2846, 20p

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors: Opladen, Thomas López-Laso, Eduardo Cortès-Saladelafont, Elisenda et al.

Source: Orphanet Journal of Rare Diseases. 8/5/2020, Vol. 15 Issue 1, p1-5. 5p.

Scoping Review on ADCY5‐Related Movement Disorders.

Authors: Menon, Poornima Jayadev Nilles, Christelle Silveira‐Moriyama, Laura et al.

Source: Movement Disorders Clinical Practice. Jul2023, Vol. 10 Issue 7, p1048-1059. 12p.

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.

Authors: Brennenstuhl, Heiko Didiasova, Miroslava Assmann, Birgit et al.

Source: International Journal of Molecular Sciences. 11/15/2020, Vol. 21 Issue 22, p8578. 1p.

Early-onset phenotype of bi-allelic GRN mutations.

Authors: Neuray, Caroline Sultan, Tipu Alvi, Javeira Raza et al.

Source: Brain: A Journal of Neurology; Feb2021, Vol. 144 Issue 2, pe22-e22, 1p

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Authors: Wassenberg, Tessa Molero-Luis, Marta Jeltsch, Kathrin et al.

Source: Orphanet Journal of Rare Diseases. 1/18/2017, Vol. 12, p1-21. 21p.

Abstracts.

Source: Journal of inherited metabolic disease Aug2022 Supplement S1; Vol. 45.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0141-8955

[Model for personalized diagnostics and treatment in neurology-German Academy for Rare Neurological Diseases].

Transliterated Title: Model für personalisierte Diagnostik und Therapie in der Neurologie – Deutsche Akademie für Seltene Neurologische Erkrankungen.

Authors: Münchau A Schöls L Klein C et al.

Source: Der Nervenarzt [Nervenarzt] 2019 Aug; Vol. 90 (8), pp. 796-803.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0400773 Publication Model: Print Cited Medium: Internet ISSN: 1433-0407 (Electronic) Linking ISSN: 00282804 NLM ISO Abbreviation: Nervenarzt Subsets: MEDLINE