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List of works by Eugen Boltshauser

47 patients with FLNA associated periventricular nodular heterotopia

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

Acute ataxia in children: approach to clinical presentation and role of additional investigations

scientific article published on 19 December 2012

Acute ischemic stroke in children versus young adults

scientific article

Anaplastic Ganglioglioma: A Very Rare Intramedullary Spinal Cord Tumor ⬇️

scientific article published on August 21, 2012

Apparent diffusion coefficient of pediatric cerebellar tumors: a biomarker of tumor grade?

scientific article

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

scientific article published in February 2014

Bannayan-Riley-Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis

Basilar artery stroke in childhood ⬇️

scientific article published on November 20, 2012

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

scientific article published on 04 January 2008

Brainstem disconnection: two additional patients and expansion of the phenotype

scientific article published on 11 February 2015

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern

scientific article published on 2 November 2015

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

scientific article

Cerebellar and Brainstem Malformations

scientific article

Cerebellar cysts in children: a pattern recognition approach

scientific article

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

scientific article published on 16 May 2014

Cerebellar hypoplasias

scientific article

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions

scientific article published in May 2004

Cerebral sinus venous thrombosis in Swiss children

scientific article

Cervical myelomeningocele—follow-up of five patients ⬇️

scientific article published on January 1, 2003

Chiari Malformations and Syringohydromyelia in Children

scientific article

Chudley-McCullough Syndrome: Case Report and Review of the Neuroimaging Spectrum ⬇️

scientific article published on March 19, 2012

Clinical and biochemical spectrum of D-bifunctional protein deficiency

scientific article published in January 2006

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

scientific article published on 10 January 2018

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement

scientific article

Clinical utility gene card for: Joubert syndrome

scientific article published on 30 March 2011

Clinical utility gene card for: Joubert syndrome--update 2013.

scientific article published on 13 February 2013

Cognitive outcome in children with rhombencephalosynapsis

scientific article published on 14 April 2008

Congenital abnormalities of the posterior fossa

scientific article

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations

scientific article published on July 2014

Crossed cerebro-cerebellar diaschisis

scientific article

Delay in the diagnosis of paediatric brain tumours

scientific article published on 8 November 2002

Delayed diagnosis of acute ischemic stroke in children - a registry-based study in Switzerland

scientific article published on 19 October 2011

Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness

article

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Differential diagnosis of cerebellar atrophy in childhood

scientific article published on 14 September 2007

Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI.

scientific article

Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination?

scientific article

Diffusion tensor imaging in progressive multifocal leukoencephalopathy: early predictor for demyelination?

scientific article

Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome

scientific article published on 3 January 2008

Disruption of cerebellar development: potential complication of extreme prematurity.

scientific article published in August 2005

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

scientific article

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

Does diagnostic delay result in decreased survival in paediatric brain tumours?

scientific article

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

scientific article

Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified In Utero

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

scientific article

Facial nerve palsy-an unusual complication after evacuation of a subdural haematoma or hygroma in children

scientific article

Factors affecting cognitive outcome in early pediatric stroke

scientific article published on 31 January 2014

Fetal Diagnosis of Rhombencephalosynapsis

scientific article published on 4 November 2015

Forced-use therapy for children with cerebral palsy in the community setting: A single-blinded randomized controlled pilot trial ⬇️

scientific article published on January 1, 2012

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

article

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis

scientific article

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria

scientific article

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations

scientific article

Horizontal head titubation in infants with Joubert syndrome: a new finding

scientific article

Incidental findings of mass lesions on neuroimages in children ⬇️

scientific article published on December 1, 2011

Isolated intraspinal juvenile xanthogranuloma in an infant presenting as acute paraplegia

scientific article published on 19 December 2012

Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation

scientific article published in May 2002

Long-term complications and quality of life in children with intraspinal tumors

scientific article published in April 2008

Long-term outcome of ten children with opsoclonus-myoclonus syndrome

scientific article published on 7 November 2006

Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions ⬇️

scientific article published on December 29, 2010

Longitudinally extensive myelopathy in children

scientific article

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

MR Neuroimaging: Brain, Spine, Peripheral Nerves

scientific article published on 3 May 2017

Macrocerebellum: significance and pathogenic considerations

scientific article published in December 2012

Magnetic toys: forbidden for pediatric patients with certain programmable shunt valves?

scientific article published on 5 December 2008

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

scientific journal article

Morphological spectrum of prenatal cerebellar disruptions

scientific article published on 22 October 2008

Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum

scientific article published on 31 December 2013

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Nationwide survey of Arima syndrome: a note of doubt

scientific article published on 17 September 2013

Natural history of a medulloblastoma: 30 months of wait and see in a child with a cerebellar incidentaloma ⬇️

scientific article published on March 16, 2013

Natural history of twin disruption sequence

scientific article published in June 2004

Neonatal neuroimaging findings in inborn errors of metabolism

scientific article published on 07 May 2012

Neural tube defects in Switzerland from 2001 to 2007: are periconceptual folic acid recommendations being followed?

scientific article

Neuroendocrine Disorders in Children

scientific article

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

scientific article

Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies

scientific article

Neuropsychological long-term sequelae after posterior fossa tumour resection during childhood

scientific article

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

scientific article published on 23 January 2015

Non-traumatic spinal cord ischaemia in childhood – Clinical manifestation, neuroimaging and outcome ⬇️

scientific article published on October 4, 2012

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

scientific article published on 29 July 2016

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Optic nerve sheath meningiomas in patients with neurofibromatosis type 2.

scientific article

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life.

scientific article

Outcome of craniopharyngioma in children: long-term complications and quality of life

scientific article published in April 2004

Outcome of severe unilateral cerebellar hypoplasia

scientific article published on 23 October 2009

Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?

scientific article published on 06 October 2012

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Pituitary duplication and nasopharyngeal teratoma in a newborn: CT, MRI, US and correlative histopathological findings

scientific article published on 8 June 2005

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature

scientific article published on 20 December 2016

Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings

scientific article published on 22 February 2007

Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities

scientific article

Prediction of the Clinical Outcome of Cavernous Sinus Lesions in Children ⬇️

scientific article published on April 6, 2013

Prenatal Brainstem Disruptions: Small Lesions-Big Problems

scientific article published in June 2017

Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury

scientific article

Preterm birth and disruptive cerebellar development: assessment of perinatal risk factors

scientific article published on 28 January 2008

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child

scientific article

Proven startle-provoked epileptic seizures in childhood: semiologic and electrophysiologic variability

scientific article published in June 2006

Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?

scientific article

Quality of life after paediatric ischaemic stroke

scientific article published on 21 October 2016

Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1.

scientific article published in September 2006

Severe neurological impairment in hereditary methaemoglobinaemia type 2.

scientific article published on 18 February 2004

Siblings with infantile cerebral stroke and delayed multivessel involvement--a new hereditary vasculopathy?

scientific article

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder

scientific article published in March 2006

Spontaneous intracranial haemorrhage in children: aetiology, presentation and outcome

scientific article published in September 2003

Sub-aponeurotic fluid collections: a delayed-onset self-limiting cerebrospinal fluid fistula in young infants

scientific article published on 3 December 2007

Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach

scientific article

Symptomatic SUNCT in an eleven-year-old girl

scientific article

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

scientific article published on 19 September 2015

Terminology in morphological anomalies of the cerebellum does matter

scientific article published on 7 July 2015

The molar tooth sign is pathognomonic for Joubert syndrome!

scientific article published on 14 November 2013

Transsphenoidal extension of heterotopic glioneuronal tissue: pathoanatomic considerations in symptomatic neonates

scientific article published on 6 November 2010

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

Vanishing cerebellum in myelomeningocoele

scientific article published in January 2002

eIF2B-related disorders: antenatal onset and involvement of multiple organs

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

“Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13–q32.3”: Where is the molar tooth sign?

“Rhombencephalosynapsis Associated with Dandy-Walker Malformation” is a Molar Tooth Malformation

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