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Author Details

Eugen Boltshauser
Children's University Hospital
1975
407
59
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36175354Expanding the natural history of CASK-related disorders to the prenatal period.Dev Med Child Neurol2023
37591769Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.AJNR Am J Neuroradiol2023
37584626Laser interstitial thermal therapy in pediatric cerebellar epilepsy.Epileptic Disord2023
37131188The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet J Rare Dis2023
36788019Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.J Med Genet2023
36564212Teaching NeuroImage: <i>ROBO3</i> Mutation Causing Horizontal Gaze Palsy and Brainstem Malformation.Neurology2023
36822823Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.AJNR Am J Neuroradiol2023
34674207Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.Neuropediatrics2022
35560436A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.Mov Disord2022
35749078Neuroimaging in cerebellar ataxia in childhood: A review.J Neuroimaging2022
36137655Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.AJNR Am J Neuroradiol2022
35863333Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome".Neuropediatrics2022
36079864Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.Nutrients2022
35038753How to Detect Isolated PEX10-Related Cerebellar Ataxia?Neuropediatrics2022
34937403Neuroradiological Mimics of Periventricular Leukomalacia.J Child Neurol2022
35305115Radiologic and clinical outcome of isolated fourth ventricle following post-hemorrhagic hydrocephalus in children.Childs Nerv Syst2022
34675124<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.J Med Genet2022
33005949Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.J Clin Endocrinol Metab2021
33511591Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1.Neuropediatrics2021
34423300Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.Brain Commun2021
34593381Can MRI Differentiate between Infectious and Immune-Related Acute Cerebellitis? A Retrospective Imaging Study.AJNR Am J Neuroradiol2021
34255731Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity.AJNR Am J Neuroradiol2021
33024317Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.Genet Med2021
32410094Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum2020
31710777Healthcare recommendations for Joubert syndrome.Am J Med Genet A2020
31942658Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.Clin Neuroradiol2020
32918381Evidence of pathogenicity for the leaky splice variant c.1066-6T&gt;Gâ¿¿in ATM.Am J Med Genet A2020
32820246Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.Genet Med2020
32698785Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.BMC Med Genet2020
30873288Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla.Cerebellum Ataxias2019
30066250The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.Eur Radiol2019
31261436VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern.Neuropediatrics2019
31481303A clinical diagnostic algorithm for early onset cerebellar ataxia.Eur J Paediatr Neurol2019
31332433SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.Brain2019
30799093Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.Eur J Paediatr Neurol2019
30797593Area Postrema: Fetal Maturation, Tumors, Vomiting Center, Growth, Role in Neuromyelitis Optica.Pediatr Neurol2019
30913568Clinical Pathways in Neuro-Ophthalmology.Neuropediatrics2019
30939598Cranial Neuroimaging and Clinical Neuroanatomy.Neuropediatrics2019
30875699Aicardi's Diseases of the Nervous System in Childhood.Neuropediatrics2019
30847875RadCases Plus Q&amp;A Neuro Imaging.Neuropediatrics2019
29186744Pediatric Spinal Deformities.Neuropediatrics2018
29913530Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia.Neuropediatrics2018
29891079Nonprogressive congenital ataxias.Handb Clin Neurol2018
29891072Drug treatment.Handb Clin Neurol2018
29903445Laboratory investigations.Handb Clin Neurol2018
29852511Rhoton's Atlas of Head, Neck, and Brain.Neuropediatrics2018
29791933Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity.Neuropediatrics2018
29486503Torcular Pseudomass.Neuropediatrics2018
29482253Brain Arteriovenous Malformations and Arteriovenous Fistulas.Neuropediatrics2018
29757724Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.Radiographics2018
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Collaborators

Children's University Hospital, Bern University Hospital, University of Bern
Co-authored papers 44
University of Pavia
Co-authored papers 31
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 18
University of California
Co-authored papers 14
University Children's Hospital
Co-authored papers 14
Co-authored papers 12
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 12
IRCCS Mondino Foundation
Co-authored papers 10
University of California
Co-authored papers 9
University of Pavia
Co-authored papers 9
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 6
University of Washington
Co-authored papers 6
University Children's Hospital, Paracelsus Medical University
Co-authored papers 6
Istanbul University
Co-authored papers 5
Albert Szent-Gyorgyi Medical School, University of Szeged
Co-authored papers 5
Fondazione IRCCS Casa Sollievo della Sofferenza,71013
Co-authored papers 5
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 5
Sapienza University of Rome
Co-authored papers 4
Boston Children's Hospital
Co-authored papers 4
Co-authored papers 4
University of Wisconsin
Co-authored papers 4
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 4
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 3
Medical University of Vienna
Co-authored papers 3
Co-authored papers 3
University of Virginia
Co-authored papers 3
Soonchunhyang University College of Medicine, Bucheon Hospital
Co-authored papers 3
University of Oslo
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 3