11 Result(s)

Article

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no con...

Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann… in Journal of Neurology (2024)

Article

Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany

Andreas Hahn, René Günther, Albert Ludolph… in Orphanet Journal of Rare Diseases (2022)

Article

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the trea...

Astrid Pechmann, Max Behrens, Katharina Dörnbrack… in Orphanet Journal of Rare Diseases (2022)

Article

Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany

The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) ...

Andreas Hahn, René Günther, Albert Ludolph… in Orphanet Journal of Rare Diseases (2022)

Article

Nuclear restriction of HIV-1 infection by SUN1

Overexpression of the human Sad-1-Unc-84 homology protein 2 (SUN2) blocks HIV-1 infection in a capsid-dependent manner. In agreement, we showed that overexpression of SUN1 (Sad1 and UNC-84a) also blocks HIV-1 inf...

Mirjana Persaud, Anastasia Selyutina, Cindy Buffone, Silvana Opp… in Scientific Reports (2021)

Article

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disabi...

Katharina Vill, Oliver Schwartz, Astrid Blaschek… in Orphanet Journal of Rare Diseases (2021)

Article

Seizures associated with antibodies against cell surface antigens are acute symptomatic and not indicative of epilepsy: insights from long-term data

Clinicians have questioned whether any disorder involving seizures and neural antibodies should be called “(auto)immune epilepsy.” The concept of “acute symptomatic seizures” may be more applicable in cases wi...

Anna Rada, Robert Birnbacher, Claudio Gobbi, Martin Kurthen… in Journal of Neurology (2021)

Article

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101

Die spinale Muskelatrophie (SMA) ist eine schwere, lebenslimitierende neurodegenerative Erkrankung. Seit Juli 2017 steht in Deutschland eine krankheitsmodifizierende und zugelassene Therapie mit Nusinersen zur...

Dr. Andreas Ziegler M.Sc., Ekkehard Wilichowski, Ulrike Schara… in Der Nervenarzt (2020)

Article

Proceedings of the Frontiers of Retrovirology Conference 2016

Oral presentations

Irena Zurnic, Sylvia Hütter, Ute Lehmann, Nicole Stanke, Juliane Reh… in Retrovirology (2016)