Eugen Boltshauser


Ontology type: schema:Person     


Person Info

NAME

Eugen

SURNAME

Boltshauser

Publications in SciGraph latest 50 shown

  • 2019-02 The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis in EUROPEAN RADIOLOGY
  • 2019 Entwicklungsstörungen des zentralen Nervensystems in KLINISCHE NEUROLOGIE
  • 2019 Nervensystem in PÄDIATRIE
  • 2018-02 Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018 Entwicklungsstörungen des zentralen Nervensystems in KLINISCHE NEUROLOGIE
  • 2017-12 Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation in EUROPEAN RADIOLOGY
  • 2017-12 Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation in EUROPEAN RADIOLOGY
  • 2017-12 In Memoriam Andrea Poretti in THE CEREBELLUM
  • 2016-12 Cerebellar Bottom-of-Fissure Dysplasia—a Novel Cerebellar Gray Matter Neuroimaging Pattern in THE CEREBELLUM
  • 2016-12 Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement in CEREBELLUM & ATAXIAS
  • 2016-12 Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-09 Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features in GENETICS IN MEDICINE
  • 2016-05 Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? in CHILD'S NERVOUS SYSTEM
  • 2016-02 Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities in THE CEREBELLUM
  • 2016 Overview of Ataxias in Children in ESSENTIALS OF CEREBELLUM AND CEREBELLAR DISORDERS
  • 2015-12 Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1 in THE CEREBELLUM
  • 2015-12 Terminology in morphological anomalies of the cerebellum does matter in CEREBELLUM & ATAXIAS
  • 2015-12 47 patients with FLNA associated periventricular nodular heterotopia in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-06 Cerebellar Cysts in Children: a Pattern Recognition Approach in THE CEREBELLUM
  • 2015-02 Longitudinally extensive myelopathy in children in PEDIATRIC RADIOLOGY
  • 2015-01 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? in HUMAN GENETICS
  • 2015 Entwicklungsstörungen des Nervensystems in PÄDIATRIE
  • 2014-12 Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy in EUROPEAN JOURNAL OF PEDIATRICS
  • 2014-02 Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? in THE CEREBELLUM
  • 2014 Entwicklungsstörungen des Nervensystems in PÄDIATRIE
  • 2013-10 Clinical utility gene card for: Joubert Syndrome - update 2013 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-10 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-07 Natural history of a medulloblastoma: 30 months of wait and see in a child with a cerebellar incidentaloma in CHILD'S NERVOUS SYSTEM
  • 2013-02 Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection? in CHILD'S NERVOUS SYSTEM
  • 2012-12 Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-12 Macrocerebellum: Significance and Pathogenic Considerations in THE CEREBELLUM
  • 2012-02 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium in NATURE GENETICS
  • 2011-09 Clinical utility gene card for: Joubert syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-07 Increased cerebellar volume in the early stage of fucosidosis: a case control study in NEURORADIOLOGY
  • 2011-06 Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions in CHILD'S NERVOUS SYSTEM
  • 2011-05 Transsphenoidal extension of heterotopic glioneuronal tissue: pathoanatomic considerations in symptomatic neonates in CHILD'S NERVOUS SYSTEM
  • 2010-12 Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria in EUROPEAN JOURNAL OF PEDIATRICS
  • 2010-07 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes in NATURE GENETICS
  • 2010-02 Ophthalmological findings in Joubert syndrome in EYE
  • 2009-09 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies in NATURE GENETICS
  • 2009-07 Intrauterine subdural hemorrhage in a preterm neonate possibly associated with maternal low-molecular weight heparin treatment in JOURNAL OF PERINATOLOGY
  • 2009-03 Does diagnostic delay result in decreased survival in paediatric brain tumours? in EUROPEAN JOURNAL OF PEDIATRICS
  • 2009-02 Magnetic toys: forbidden for pediatric patients with certain programmable shunt valves? in CHILD'S NERVOUS SYSTEM
  • 2008-12 Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life in CHILD'S NERVOUS SYSTEM
  • 2008-10 Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome in EUROPEAN JOURNAL OF PEDIATRICS
  • 2007-04 Long-term outcome of ten children with opsoclonus-myoclonus syndrome in EUROPEAN JOURNAL OF PEDIATRICS
  • 2006-06 Facial nerve palsy—an unusual complication after evacuation of a subdural haematoma or hygroma in children in CHILD'S NERVOUS SYSTEM
  • 2006-06 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome in NATURE GENETICS
  • 2006-04 Conservative management of significant epidural haematomas in children in CHILD'S NERVOUS SYSTEM
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