E-LIB Suche - Ergebnisse für: Stendel, Claudia

1

Clinical, Imaging, Genetic, and Disease Course Characterist..:

Kern, Jan ; Böhringer, Judith ; Timmann, Dagmar...
Neurology. 102 (2024) 1 - p. , 2024

2

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1098-1109 , 2023

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

3

Evolution of Clinical Outcome Measures and Biomarkers in Sp..:

Oender, Demet ; Faber, Jennifer ; Wilke, Carlo...
Movement Disorders. 38 (2023) 4 - p. 654-664 , 2023

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

4

Longitudinal changes of SARA scale in Friedreich ataxia: St..:

Porcu, Luca ; Fichera, Mario ; Nanetti, Lorenzo...
Annals of Clinical and Translational Neurology. 10 (2023) 11 - p. 2000-2012 , 2023

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

5

Mitochondriale Erkrankungen – Ein Update zu Klinik, Diagnos..:

Stendel, Claudia ; Neuhofer, Christiane Michaela ; Klopstock, Thomas
Neurologie up2date. 5 (2022) 1 - p. 73-96 , 2022

Link: https://doi.org/10.1055/..

6

Mast Syndrome Outside the Amish Community: SPG21 in Europe:

Amprosi, Matthias ; Indelicato, Elisabetta ; Nachbauer, Wolfgang...
Frontiers in Neurology. 12 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Prediction of the disease course in Friedreich ataxia:

Hohenfeld, Christian ; Terstiege, Ulrich ; Dogan, Imis...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

8

Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐As..:

Roeben, Benjamin ; Bültmann, Eva ; Stendel, Claudia.
Annals of Neurology. 91 (2022) 3 - p. 438-440 , 2022

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

9

Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS):..:

Schischlevskij, Pavel ; Cordts, Isabell ; Günther, René...
Brain Sciences. 11 (2021) 6 - p. 748 , 2021

Link: https://doi.org/10.3390/..

10

Association of A Novel Splice Site Mutation in P/Q-Type Cal..:

Stendel, Claudia ; D'Adamo, Maria Cristina ; Wiessner, Manuela...
International Journal of Molecular Sciences. 21 (2020) 11 - p. 3810 , 2020

Link: https://doi.org/10.3390/..

11

PRDM12 Is Required for Initiation of the Nociceptive Neuron..:

Bartesaghi, Luca ; Wang, Yiqiao ; Fontanet, Paula...
Cell Reports. 26 (2019) 13 - p. 3484-3492.e4 , 2019

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

12

MT-ATP6mitochondrial disease variants: Phenotypic and bioch..:

Ganetzky, Rebecca D. ; Stendel, Claudia ; McCormick, Elizabeth M....
Human Mutation. 40 (2019) 5 - p. 499-515 , 2019

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

13

Nonataxia symptoms in Friedreich Ataxia: Report from the Re..:

Reetz, Kathrin ; Dogan, Imis ; Hohenfeld, Christian...
Neurology. 91 (2018) 10 - p. , 2018

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

14

Hereditary spastic paraplegia type 5: natural history, biom..:

Schöls, Ludger ; Rattay, Tim W ; Martus, Peter...
Brain. 140 (2017) 12 - p. 3112-3127 , 2017

Link: https://doi.org/10.1093/..

15

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

Minnerop, Martina ; Kurzwelly, Delia ; Rattay, Tim W...
Brain. 141 (2017) 1 - p. e2-e2 , 2017

Link: https://doi.org/10.1093/..