10 Einträge gefunden

1. The Batten disease protein CLN3 is important for stress granules dynamics and translational activity

   1. Relton, Emily L
   2. Roth, Nicolas J
   3. Yasa, Seda
   4. Kaleem, Abuzar
   5. Hermey, Guido
   6. Minnis, Christopher J
   7. Mole, Sara E

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

   1. Mole, Sara E
   2. Schulz, Angela
   3. Badoe, Eben
   4. Berkovic, Samuel F
   5. de Los Reyes, Emily C
   6. Dulz, Simon
   7. Gissen, Paul

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

   1. Mole, Sara E
   2. Anderson, Glenn
   3. Band, Heather A
   4. Berkovic, Samuel F
   5. Cooper, Jonathan D
   6. Kleine Holthaus, Sophia-Martha
   7. McKay, Tristan R

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
4. Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

   1. Danyukova, Tatyana
   2. Ariunbat, Khandsuren
   3. Thelen, Melanie
   4. Brocke-Ahmadinejad, Nahal
   5. Mole, Sara E
   6. Storch, Stephan

   2018 - Forschungsinformationssystem des UKE
5. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

   1. Fietz, Michael
   2. AlSayed, Moeenaldeen
   3. Burke, Derek
   4. Cohen-Pfeffer, Jessica
   5. Cooper, Jonathan D
   6. Dvořáková, Lenka
   7. Giugliani, Roberto

   2016 - Forschungsinformationssystem des UKE
6. Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.

   1. Lebrun, Anne-Hélène
   2. Moll-Khasrawi, Parisa
   3. Pohl, Sandra
   4. Makrypidi, Georgia
   5. Storch, Stephan
   6. Kilian, Dirk
   7. Streichert, Thomas

   2011 - Forschungsinformationssystem des UKE - frei zugänglich
7. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

   1. Kurze, Anna-Katharina
   2. Galliciotti, Giovanna
   3. Heine, Claudia
   4. Mole, Sara E
   5. Quitsch, Arne
   6. Braulke, Thomas

   2010 - Forschungsinformationssystem des UKE
8. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

   1. Lebrun, Anne-Hélène
   2. Storch, Stephan
   3. Rüschendorf, Franz
   4. Schmiedt, Mia-Lisa
   5. Kyttälä, Aija
   6. Mole, Sara E
   7. Kitzmüller, Claudia

   2009 - Forschungsinformationssystem des UKE
9. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

   1. Heine, Claudia
   2. Quitsch, Arne
   3. Storch, Stephan
   4. Martin, Yella
   5. Lonka, Liina
   6. Lehesjoki, Anna-Elina
   7. Mole, Sara E

   2007 - Forschungsinformationssystem des UKE
10. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

    1. Poët, Mallorie
    2. Kornak, Uwe
    3. Schweizer, Michaela
    4. Zdebik, Anselm A
    5. Scheel, Olaf
    6. Hoelter, Sabine
    7. Wurst, Wolfgang

    2006 - Forschungsinformationssystem des UKE