E-LIB Suche - Ergebnisse für: Stendel, C.

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Risikogene bei Myopathien und mitochondrialen Erkrankungen:

Stendel, C. ; Walter, M. C. ; Klopstock, T.
Der Nervenarzt. 88 (2017) 7 - p. 736-743 , 2017

Link: https://doi.org/10.1007/..

2

G.O.5 A new autosomal dominant distal vacuolar myopathy ass..:

Senderek, J. ; Garvey, S.M. ; Krieger, M....
Neuromuscular Disorders. 19 (2009) 8-9 - p. 599 , 2009

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

3

P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a..:

Senderek, J. ; Krieger, M. ; Stendel, C....
Neuromuscular Disorders. 16 (2006) 9-10 - p. 683 , 2006

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

4

Spine deformities in Charcot-Marie-Tooth 4C caused bySH3TC2..:

Azzedine, H. ; Ravisé, N. ; Verny, C....
Neurology. 67 (2006) 4 - p. 602-606 , 2006

Link: https://doi.org/10.1212/..

5

Prediction of the disease course in Friedreich ataxia:

Hohenfeld, C ; Terstiege, U ; Dogan, I...
https://discovery.ucl.ac.uk/id/eprint/10160294/1/s41598-022-23666-z.pdf. , 2022

Link: https://discovery.ucl.ac..

6

Progression characteristics of the European Friedreich's At..:

Reetz, K ; Dogan, I ; Hilgers, R-D...
https://discovery.ucl.ac.uk/id/eprint/10126201/1/Giunti_20201214_EFACTS_4y_manuscript-highlighted.pdf. , 2021

Link: https://discovery.ucl.ac..

7

NfL and pNfH are increased in Friedreich's ataxia:

Hayer, SN ; Liepelt, I ; Barro, C...
https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf. , 2020

Link: https://discovery.ucl.ac..

8

Delineating MT-ATP6-associated disease:

Stendel, C ; Neuhofer, C ; Floride, E...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXG.0000000000000393. , 2020

Link: https://push-zb.helmholt..

9

Reply: POLR3A variants in hereditary spastic paraplegia and..:

Minnerop, Martina ; Kurzwelly, D ; Rattay, T. W...
info:eu-repo/semantics/altIdentifier/issn/0006-8950. , 2018

Link: https://juser.fz-juelich..

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SYNE1 ataxia is a common recessive ataxia with major non-ce..:

Synofzik, M ; Smets, K ; Mallaret, M...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/aww079. , 2016

Link: https://push-zb.helmholt..

11

International Paediatric Mitochondrial Disease Scale:

Koene, S ; Hendriks, JCM ; Dirks, I...
Koene , S , Hendriks , JCM , Dirks , I , Boer , L , de Vries , MC , Janssen , MCH , Smuts , I , Fung , C W , Wong , V C N , Coo , IFM , Vill , K , Stendel , C , Klopstock , T , Falk , MJ , McCormick , E M , McFarland , R , de Groot , IJM & Smeitink , JAM 2016 , ' International Paediatric Mitochondrial Disease Scale ' , Journal of Inherited Metabolic Disease , vol. 39 , no. 5 , pp. 705-712 . https://doi.org/10.1007/s10545-016-9948-7. , 2016

Link: https://pure.eur.nl/en/p..

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