Search

Author/Creator Klopstock, Thomas

2. 14.45 Maintenance of idebenone treatment results in continued improvement in LHON patients. Issue 12 (14th November 2019)

Authors:
Lloria, Xavier; Silva, Magda; Lawrence-, Catherine; Rudolph, Guenther; Lob, Felice; Livonius, Bettina von; Catarino, Claudia; Klopstock, Thomas
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 12(2019)
Page Start:
e6
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Issue 9 (1st September 2000)

Authors:
Scharfe, Curt; Hauschild, Michael; Klopstock, Thomas; Janssen, Antoon J M; Heidemann, Peter H; Meitinger, Thomas; Jaksch, Michaela
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 9(2000)
Page Start:
669
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration. Issue 2 (22nd January 2019)

Authors:
Marshall, Randall D.; Collins, Abigail; Escolar, Maria L.; Jinnah, H.A.; Klopstock, Thomas; Kruer, Michael C.; Videnovic, Aleksandar; Robichaux‐Viehoever, Amy; Swett, Laura; Revicki, Dennis A.; Bender, Randall H.; Lenderking, William R.
Journal:
Movement disorders clinical practice
Issue:
Volume 6:Issue 2(2019)
Page Start:
139
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders. (25th July 2014)

Authors:
Blanco, Sandra; Dietmann, Sabine; Flores, Joana V; Hussain, Shobbir; Kutter, Claudia; Humphreys, Peter; Lukk, Margus; Lombard, Patrick; Treps, Lucas; Popis, Martyna; Kellner, Stefanie; Hölter, Sabine M; Garrett, Lillian; Wurst, Wolfgang; Becker, Lore; Klopstock, Thomas; Fuchs, Helmut; Gailus‐Durn...
Journal:
EMBO journal
Issue:
Volume 33:Number 18(2014)
Page Start:
2020
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin. Issue 8 (14th June 2022)

Authors:
Cordts, Isabell; Önder, Demet; Traschütz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiß, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Raut...
Journal:
Movement disorders
Issue:
Volume 37:Issue 8(2022)
Page Start:
1707
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 1 (28th October 2013)

Authors:
Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
149
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 8 (28th May 2013)

Authors:
Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo...
Journal:
Human mutation
Issue:
Volume 34:Issue 8(2013:Aug.)
Page Start:
1160
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Antibodies inhibit transmission and aggregation of C9orf72 poly‐GA dipeptide repeat proteins. Issue 5 (28th March 2017)

Authors:
Zhou, Qihui; Lehmer, Carina; Michaelsen, Meike; Mori, Kohji; Alterauge, Dominik; Baumjohann, Dirk; Schludi, Martin H; Greiling, Johanna; Farny, Daniel; Flatley, Andrew; Feederle, Regina; May, Stephanie; Schreiber, Franziska; Arzberger, Thomas; Kuhm, Christoph; Klopstock, Thomas; Hermann, Andreas;...
Journal:
EMBO molecular medicine
Issue:
Volume 9:Issue 5(2017)
Page Start:
687
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗