E-LIB Suche - Ergebnisse für: Boltshauser, Eugen

1

Hydrocephalus associated with a molar tooth sign: A distinc..:

Gafner, Michal ; Haddad, Leila ; Gupta, Rachna...
Developmental Medicine & Child Neurology. 66 (2024) 7 - p. 948-957 , 2024

Link: https://doi.org/10.1111/..

2

Incidence and Characteristics of Cerebellar Atrophy/Volume ..:

Mertiri, Livja ; Boltshauser, Eugen ; Kralik, Stephen F....
Children. 11 (2024) 6 - p. 627 , 2024

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

3

The genetic spectrum of congenital ocular motor apraxia typ..:

Schröder, Simone ; Yigit, Gökhan ; Li, Yun...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023

Link: https://doi.org/10.1136/..

5

Teaching NeuroImage:ROBO3Mutation Causing Horizontal Gaze P..:

Chanda, Geetha ; Reddy, Nihaal ; Konanki, Ramesh..
Neurology. 100 (2023) 17 - p. 840-841 , 2023

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

6

Overview of Ataxia in Childhood:

, In: Essentials of Cerebellum and Cerebellar Disorders,

Boltshauser, Eugen - p. 531-535 , 2023

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

7

Laser interstitial thermal therapy in pediatric cerebellar ..:

Bicciato, Giulio ; Gennari, Antonio Giulio ; Oertel, Markus Florian...
Epileptic Disorders. 25 (2023) 6 - p. 880-885 , 2023

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

8

Radiologic and clinical outcome of isolated fourth ventricl..:

Salman, Rida ; Huisman, Thierry A. G. M. ; Kralik, Stephen...
Child's Nervous System. , 2022

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

9

Neuroimaging in cerebellar ataxia in childhood: A review:

Serrallach, Bettina L. ; Orman, Gunes ; Boltshauser, Eugen...
Journal of Neuroimaging. 32 (2022) 5 - p. 825-851 , 2022

Link: https://doi.org/10.1111/..

10

A De Novo Missense NPTX1 Variant in an Individual with Infa..:

Schöggl, Johanna ; Siegert, Sandy ; Boltshauser, Eugen..
Movement Disorders. 37 (2022) 8 - p. 1774-1776 , 2022

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

11

Ketogenic Diet Treatment of Defects in the Mitochondrial Ma..:

Bölsterli, Bigna K. ; Boltshauser, Eugen ; Palmieri, Luigi...
Nutrients. 14 (2022) 17 - p. 3605 , 2022

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

12

Expanding the natural history of CASK‐related disorders to ..:

Gafner, Michal ; Boltshauser, Eugen ; D'Abrusco, Fulvio...
Developmental Medicine & Child Neurology. 65 (2022) 4 - p. 544-550 , 2022

Link: https://doi.org/10.1111/..

13

Neuroradiological Mimics of Periventricular Leukomalacia:

Reddy, Nihaal ; Doyle, Mary ; Hanagandi, Prasad...
Journal of Child Neurology. 37 (2021) 2 - p. 151-167 , 2021

Link: https://doi.org/10.1177/..

14

Heterozygous truncating variants in SUFU cause congenital o..:

Schröder, Simone ; Li, Yun ; Yigit, Gökhan...
Genetics in Medicine. 23 (2021) 2 - p. 341-351 , 2021

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

15

Identification of LAMA1 mutations ends diagnostic odyssey a..:

Powell, Laura ; Olinger, Eric ; Wedderburn, Sarah...
Brain Communications. 3 (2021) 3 - p. , 2021

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