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
  • 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
  • 2017-12 In Memoriam Andrea Poretti in THE CEREBELLUM
  • 2016-12 Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement in CEREBELLUM & ATAXIAS
  • 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
  • 2015 Entwicklungsstörungen des Nervensystems in PÄDIATRIE
  • 2015-01 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? in HUMAN GENETICS
  • 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
  • 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
  • 2012-12 Macrocerebellum: Significance and Pathogenic Considerations in THE CEREBELLUM
  • 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
  • 2010-12 Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria in EUROPEAN JOURNAL OF PEDIATRICS
  • 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
  • 2005-08 Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene in EUROPEAN JOURNAL OF PEDIATRICS
  • 2002-12 Delay in the diagnosis of paediatric brain tumours in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-11 Neonatal Escherichia coli meningitis: spinal adhesions as a late complication in EUROPEAN JOURNAL OF PEDIATRICS
  • 1997-02 Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-05 Cerebellomedullary compression in recessive craniometaphyseal dysplasia in NEURORADIOLOGY
  • 1994-04 Transient bifrontal solitary periventricular cysts in term neonates in NEURORADIOLOGY
  • 1993-01 Prenatal brain atrophy due to a giant vein of Galen malformation in NEURORADIOLOGY
  • 1992-10 Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992 Messung des Vibrationssinns im Kindesalter: Normwerte und erste Erfahrungen bei Polyneuropathie in AKTUELLE NEUROPÄDIATRIE 1991
  • 1991-12 43 MRI IN HEMIPLEGIC CEREBRAL PALSY: CORRELATION WITH THE SEVERITY OF MOTOR AND DEVELOPMENTAL ABNORMALITY in PEDIATRIC RESEARCH
  • 1991-12 59 MRI FOLLOWING SEVERE PERINATAL ASPHYXIA in PEDIATRIC RESEARCH
  • 1991-05 MR imaging of intracranial hemorrhage in neonates and infants at 2.35 Tesla in NEURORADIOLOGY
  • 1990-05 Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure in PEDIATRIC RADIOLOGY
  • 1989 Hypomelanosis Ito — ein weniger bekanntes neurokutanes Syndrom: Beobachtungen bei 3 Patienten von 5, 20 und 31 Jahren in AKTUELLE NEUROPÄDIATRIE 1988
  • 1989 Hirntumoren bei Kindern mit Neurofibromatose in AKTUELLE NEUROPÄDIATRIE 1988
  • 1989-01 Magnetic resonance imaging of the brain in congenital cytomegalovirus infection in PEDIATRIC RADIOLOGY
  • 1988 Das Kind mit neuromuskulärer Krankheit — Übersicht in ZAK MÜNCHEN 1987
  • 1984-11 Familial X-linked Addison's disease (AD) without neurological symptoms as an expression of adrenoleukodystrophy (ALD) in PEDIATRIC RESEARCH
  • 1981-10 Computed tomography in Pelizaeus-Merzbacher disease in NEURORADIOLOGY
  • 1981-08 Permanent flaccid paraplegia in children with thoracic spinal cord injury in SPINAL CORD
  • 1978 Computed Tomography in Neurodegenerative Disorders in Childhood in PROCEEDINGS OF THE XI. SYMPOSIUM NEURORADIOLOGICUM
  • 1975-06 Triploidie als Ursache von Schwangerschaftsgestose im 2. Trimenon in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
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