Michael Freilinger

Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice

Reginald E. Bittner, Christian Schöfer, Klara Weipoltshammer et al. · Anatomy and Embryology · 1999 · 440 citations

Regenerative Medicine, Mechanobiology, Cardiac Muscle +13

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke et al. · Human Mutation · 2006 · 166 citations

Possible Pde, Molecular Pharmacology, Molecular Characterization +14

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo‐Kyung Chung, Jean-François Vanbellinghen, Jonathan G.L. Mullins et al. · Journal of Neuroscience · 2010 · 122 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +16

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 120 citations · Full text

Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy—The Austrian experience

Anastasia Dressler, Benjamin Stöcklin, Eva Reithofer et al. · Seizure · 2010 · 102 citations

Long-term Outcome, Nutrition, Pediatrics +1