E-LIB Suche - Ergebnisse für: Valletta, Lorella

1

Rare causes of early-onset dystonia-parkinsonism with cogni..:

Carecchio, Miryam ; Picillo, Marina ; Valletta, Lorella...
neurogenetics. 18 (2017) 3 - p. 175-178 , 2017

2

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atr..:

Heimer, Gali ; Kerätär, Juha M. ; Riley, Lisa G....
The American Journal of Human Genetics. 99 (2016) 6 - p. 1229-1244 , 2016

Link: https://doi.org/10.1016/..

3

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E....
Nature Communications. 7 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

4

Effective immuno-targeting of the IDH1 mutation R132H in a ..:

Pellegatta, Serena ; Valletta, Lorella ; Corbetta, Cristina...
Acta Neuropathologica Communications. 3 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

5

Exome Sequence Reveals Mutations in CoA Synthase as a Cause..:

Dusi, Sabrina ; Valletta, Lorella ; Haack, Tobias B....
The American Journal of Human Genetics. 94 (2014) 1 - p. 11-22 , 2014

Link: https://doi.org/10.1016/..

6

DNA Microarray Analysis Identifies CKS2 and LEPR as Potenti..:

Menghi, Francesca ; Orzan, Francesca N. ; Eoli, Marica...
The Oncologist. 16 (2011) 10 - p. 1440-1450 , 2011

Link: https://doi.org/10.1634/..

7

Reclassification of oligoastrocytomas by loss of heterozygo..:

Eoli, Marica ; Bissola, Lorena ; Bruzzone, Maria Grazia...
International Journal of Cancer. 119 (2006) 1 - p. 84-90 , 2006

Link: https://doi.org/10.1002/..

8

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
https://www.repository.cam.ac.uk/handle/1810/256294. , 2016

Link: https://www.repository.c..

9

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
http://sro.sussex.ac.uk/id/eprint/61189/1/nat%20comm%20paper%20js.pdf. , 2016

Link: http://sro.sussex.ac.uk/..

10

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894980/. , 2016

Link: http://www.ncbi.nlm.nih...

11

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atr..:

Heimer, Gali ; Kerätär, Juha M ; Riley, Lisa G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/. , 2016

Link: http://www.ncbi.nlm.nih...

12

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
Nature communications. , 2016

Link: https://ddd.uab.cat/reco..

13

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
Tuschl , K , Meyer , E , Valdivia , L E , Zhao , N , Dadswell , C , Abdul-Sada , A , Hung , C Y , Simpson , M A , Chong , W K , Jacques , T S , Woltjer , R L , Eaton , S , Gregory , A , Sanford , L , Kara , E , Houlden , H , Cuno , S M , Prokisch , H , Valletta , L , Tiranti , V , Younis , R , Maher , E R , Spencer , J , Straatman-Iwanowska , A , Gissen , P , Selim , L A M , Pintos-Morell , G , Coroleu-Lletget , W , Mohammad , S S , Yoganathan , S , Dale , R C , Thomas , M , Rihel , J , Bodamer , O A , Enns , C A , Hayflick , S J , Clayton , P T , Mills , P B , Kurian , M A & Wilson , S W 2016 , ' Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia ' , Nature Communications , vol. 7 , 11601 . https://doi.org/10.1038/ncomms11601. , 2016

Link: https://kclpure.kcl.ac.u..

14

Mutations in SLC39A14 disrupt manganese homeostasis and cau..:

Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E...
Tuschl , K , Meyer , E , Valdivia , L E , Zhao , N , Dadswell , C , Abdul-Sada , A , Hung , C Y , Simpson , M A , Chong , W K , Jacques , T S , Woltjer , R L , Eaton , S , Gregory , A , Sanford , L , Kara , E , Houlden , H , Cuno , S M , Prokisch , H , Valletta , L , Tiranti , V , Younis , R , Maher , E R , Spencer , J , Straatman-Iwanowska , A , Gissen , P , Selim , L A M , Pintos-Morell , G , Coroleu-Lletget , W , Mohammad , S S , Yoganathan , S , Dale , R C , Thomas , M , Rihel , J , Bodamer , O A , Enns , C A , Hayflick , S J , Clayton , P T , Mills , P B , Kurian , M A & Wilson , S W 2016 , ' Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia ' , Nature Communications , vol. 7 , 11601 . https://doi.org/10.1038/ncomms11601. , 2016

Link: https://kclpure.kcl.ac.u..

15

Effective immuno-targeting of the IDH1 mutation R132H in a ..:

Pellegatta, Serena ; Valletta, Lorella ; Corbetta, Cristina...
http://www.actaneurocomms.org/content/3/1/4. , 2015

Link: http://www.actaneurocomm..