Eugen Boltshauser
Overview
Explore the profile of Eugen Boltshauser including associated specialties, affiliations and a list of published articles.
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195
Citations
3550
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Recent Articles
1.
DAbrusco F, Serpieri V, Taccagni C, Garau J, Cattaneo L, Boggioni M, et al.
Eur J Hum Genet
. 2024 Oct;
33(1):72-79.
PMID: 39394465
Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to increase the diagnostic yield by uncovering cryptic variants through...
2.
Siegert S, Grisold A, Pal-Handl K, Lilja S, Kepa S, Silvaieh S, et al.
Pediatr Neurol
. 2024 Aug;
160:38-44.
PMID: 39181021
Background: Biallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and...
3.
Mertiri L, Boltshauser E, Kralik S, Desai N, Lequin M, Huisman T
Children (Basel)
. 2024 Jun;
11(6).
PMID: 38929207
The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a...
4.
5.
Wortmann S, Feichtinger R, Abela L, van Gemert L, Aubart M, Dufeu-Berat C, et al.
Neurol Genet
. 2024 Apr;
10(2):e200146.
PMID: 38617198
Background And Objectives: Hexokinase 1 (encoded by ) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic variants causing a neurodevelopmental disorder (NDD) have...
6.
Gafner M, Haddad L, Gupta R, Leibovitz Z, Zilberman Ron I, Ben-Sira L, et al.
Dev Med Child Neurol
. 2024 Jan;
66(7):948-957.
PMID: 38247023
Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype....
7.
Bicciato G, Gennari A, Oertel M, Dunner C, Krayenbuhl N, Boltshauser E, et al.
Epileptic Disord
. 2023 Aug;
25(6):880-885.
PMID: 37584626
Cerebellar lesional epilepsy is rare, commonly manifesting in early life and posing diagnostic and treatment challenges. Seizure semiology may be subtle, with repetitive eye blinking, face twitching, and irregular breathing,...
8.
Schroder S, Yigit G, Li Y, Altmuller J, Buttel H, Fiedler B, et al.
Orphanet J Rare Dis
. 2023 May;
18(1):101.
PMID: 37131188
Background: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded...
9.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, et al.
J Med Genet
. 2023 Feb;
60(9):885-893.
PMID: 36788019
Background: Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases. Methods:...
10.
Chanda G, Reddy N, Konanki R, Boltshauser E, Lingappa L
Neurology
. 2022 Dec;
100(17):840-841.
PMID: 36564212
No abstract available.