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Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.
Scientific Reports|May 14, 2020
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Cellular and Molecular Life Sciences : CMLS|November 18, 2015
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individualsLudwig Heesen, Michael Peitz, Laura Torres-Benito, et al.
Scientific Reports|May 23, 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Scientific Reports|July 4, 2018
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
American Journal of Human Genetics|August 9, 2016
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA PhenotypeSeyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres-Benito, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
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