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- Mole, Sara E
- Storch, Stephan 4
- Berkovic, Samuel F 2
- Braulke, Thomas 2
- Cooper, Jonathan D 2
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10 Einträge gefunden
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The Batten disease protein CLN3 is important for stress granules dynamics and translational activity
- Relton, Emily L
- Roth, Nicolas J
- Yasa, Seda
- Kaleem, Abuzar
- Hermey, Guido
- Minnis, Christopher J
- Mole, Sara E
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
- Mole, Sara E
- Schulz, Angela
- Badoe, Eben
- Berkovic, Samuel F
- de Los Reyes, Emily C
- Dulz, Simon
- Gissen, Paul
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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
- Mole, Sara E
- Anderson, Glenn
- Band, Heather A
- Berkovic, Samuel F
- Cooper, Jonathan D
- Kleine Holthaus, Sophia-Martha
- McKay, Tristan R
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Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
- Danyukova, Tatyana
- Ariunbat, Khandsuren
- Thelen, Melanie
- Brocke-Ahmadinejad, Nahal
- Mole, Sara E
- Storch, Stephan
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
- Fietz, Michael
- AlSayed, Moeenaldeen
- Burke, Derek
- Cohen-Pfeffer, Jessica
- Cooper, Jonathan D
- Dvořáková, Lenka
- Giugliani, Roberto
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Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
- Lebrun, Anne-Hélène
- Moll-Khasrawi, Parisa
- Pohl, Sandra
- Makrypidi, Georgia
- Storch, Stephan
- Kilian, Dirk
- Streichert, Thomas
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Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
- Kurze, Anna-Katharina
- Galliciotti, Giovanna
- Heine, Claudia
- Mole, Sara E
- Quitsch, Arne
- Braulke, Thomas
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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
- Poët, Mallorie
- Kornak, Uwe
- Schweizer, Michaela
- Zdebik, Anselm A
- Scheel, Olaf
- Hoelter, Sabine
- Wurst, Wolfgang