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Pauly, Martje G.
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1

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Not to Miss: Intronic Variants, Treatment, and Review of th..:

Pauly, Martje G. ; Brüggemann, Norbert ; Efthymiou, Stephanie...
International Journal of Molecular Sciences.  24 (2023)  3 - p. 1874 , 2023
Link: https://doi.org/10.3390/..
 
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3

Subthalamic nucleus conditioning reduces premotor-motor int..:

Pauly, Martje G. ; Barlage, Magdalena ; Hamami, Feline...
Parkinsonism & Related Disorders.  96 (2022)  - p. 6-12 , 2022
Link: https://doi.org/10.1016/..
 
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4

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Beijer, Danique...
Movement Disorders.  37 (2022)  6 - p. 1175-1186 , 2022
Link: https://doi.org/10.1002/..
 
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5

Time estimation and arousal responses in dopa-responsive dy..:

Becker, Leonie F. ; Tunc, Sinem ; Murphy, Peter...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

Cerebellar transcranial current stimulation – An intraindiv..:

Herzog, Rebecca ; Berger, Till M. ; Pauly, Martje G....
Frontiers in Neuroscience.  16 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

NPTX1 mutations trigger endoplasmic reticulum stress and ca..:

Coutelier, Marie ; Jacoupy, Maxime ; Janer, Alexandre...
Brain.  145 (2021)  4 - p. 1519-1534 , 2021
Link: https://doi.org/10.1093/..
 
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8

Ventral Telencephalic Patterning Protocols for Induced Plur..:

Krajka, Victor ; Naujock, Maximilian ; Pauly, Martje G....
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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9

Multimodal Longitudinal Neurophysiological Investigations i..:

Weissbach, Anne ; Steinmeier, Annika ; Pauly, Martje G....
Movement Disorders.  36 (2021)  8 - p. 1986-1987 , 2021
Link: https://doi.org/10.1002/..
 
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10

Cerebellar rTMS and PAS effectively induce cerebellar plast..:

Pauly, Martje G. ; Steinmeier, Annika ; Bolte, Christina...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Relationship of Genotype, Phenotype, and Treatment in Dopa‐..:

Weissbach, Anne ; Pauly, Martje G. ; Herzog, Rebecca...
Movement Disorders.  37 (2021)  2 - p. 237-252 , 2021
Link: https://doi.org/10.1002/..
 
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12

Compound Heterozygous DARS2 Mutations as a Mimic of Heredit..:

Pauly, Martje G. ; Hellenbroich, Yorck ; Grundmann‐Hauser, Kathrin...
Movement Disorders Clinical Practice.  8 (2021)  6 - p. 972-976 , 2021
Link: https://doi.org/10.1002/..
 
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13

Expanding Data Collection for the MDSGene Database: X‐linke..:

Pauly, Martje G. ; Ruiz López, Marta ; Westenberger, Ana...
Movement Disorders.  35 (2020)  11 - p. 1933-1938 , 2020
Link: https://doi.org/10.1002/..
 
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14

Severe Scratching in Spinocerebellar Ataxia 17: Another Cas:

Pauly, Martje G. ; Münchau, Alexander ; Brüggemann, Norbert
Tremor and Other Hyperkinetic Movements.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.5334/..
 
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15

EIF2AK2 Missense Variants Associated with Early Onset Gener..:

Kuipers, Demy J. S. ; Mandemakers, Wim ; Lu, Chin‐Song...
Annals of Neurology.  89 (2020)  3 - p. 485-497 , 2020
Link: https://doi.org/10.1002/..
 
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