Zobrazeno 1 - 10
of 421
pro vyhledávání: '"Eugen Boltshauser"'
Autor:
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract 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 as a nosological entity by som
Externí odkaz:
https://doaj.org/article/ceff460c817f43bdbaa50221fb814e9a
Autor:
Livja Mertiri, Eugen Boltshauser, Stephen F. Kralik, Nilesh K. Desai, Maarten H. Lequin, Thierry A. G. M. Huisman
Publikováno v:
Children, Vol 11, Iss 6, p 627 (2024)
Objectives: 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 cohort of pediatric patients with confirmed tuberous
Externí odkaz:
https://doaj.org/article/d8fa45f0e8674b13b54ee54d13f919ce
Autor:
Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr, Thomas Arnesen
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as causative of genetic d
Externí odkaz:
https://doaj.org/article/27b4b3c30e91454e8be7e2d1f8050d7b
Autor:
Michal, Gafner, Eugen, Boltshauser, Fulvio, D'Abrusco, Roberta, Battini, Romina, Romaniello, Stefano, D'Arrigo, Ginevra, Zanni, Zvi, Leibovitz, Keren, Yosovich, Tally, Lerman-Sagie, Francesco, Nicita
Publikováno v:
Developmental Medicine & Child Neurology. 65:544-550
To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.In this international multicentre retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8a236e360171e7c02d7b1819771680
https://doi.org/10.1111/dmcn.15419
https://doi.org/10.1111/dmcn.15419
Publikováno v:
Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9082059cdf0ae323c362835ad176af67
https://europepmc.org/articles/PMC10136014/
https://europepmc.org/articles/PMC10136014/
Autor:
Eugen Boltshauser
Publikováno v:
Essentials of Cerebellum and Cerebellar Disorders ISBN: 9783031150692
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac28ea09738043eae7f2e65e9fbab38b
https://doi.org/10.1007/978-3-031-15070-8_80
https://doi.org/10.1007/978-3-031-15070-8_80
Autor:
Nihaal Reddy, Mary Doyle, Prasad Hanagandi, Ajay Taranath, Hisham Dahmoush, Pradeep Krishnan, Ozgur Oztekin, Eugen Boltshauser, Manohar Shroff, Kshitij Mankad
Publikováno v:
Journal of Child Neurology. 37:151-167
Aim: Periventricular leukomalacia (PVL) is a term reserved to describe white matter injury in the premature brain. In this review article, the authors highlight the common and rare pathologies mimicking the chronic stage of PVL and propose practical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621ab9227df8f97dfce69b8cb856a71
https://doi.org/10.1177/08830738211026052
https://doi.org/10.1177/08830738211026052
Publikováno v:
Neuropediatrics. 53:195-199
We report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01ed58a498954957459491fdb1e07353
https://doi.org/10.1055/s-0041-1732310
https://doi.org/10.1055/s-0041-1732310
Publikováno v:
Movement Disorders. 37:1774-1776
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d2dad639be8fc1652bdfd6f2bd4fda
https://doi.org/10.1002/mds.29054
https://doi.org/10.1002/mds.29054
Autor:
Ethiraj Ravindran, Hao Hu, Scott A Yuzwa, Luis R Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D Miller, Thomas F Wienker, Christoph Hübner, Angela M Kaindl
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006746 (2017)
Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are key for co
Externí odkaz:
https://doaj.org/article/5b284e26306f4ccab2416e2e9381e227