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Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Journal of Neuromuscular Diseases|November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Eclinicalmedicine|November 3, 2025
Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in AustriaOmar Keritam, Marcus Erdler, Bernhard Fasching, et al.
Journal of Neuromuscular Diseases|September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling studyBenedikt Becker, Isabell Cordts, Jutta Becker, et al.
Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
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