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- 0000-0001-5403-3092
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Cognitive outcomes in Susac syndrome : a 2-year neuropsychological follow-up study
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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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- Conference Paper
- open access
Causal evidence of anterior cingulate cortex function: an experimental study in patients with stroke in the frontal lobe
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- Journal Article
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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- Journal Article
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Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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- Journal Article
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
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- Journal Article
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- open access
Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort
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Identifying the source of the reward positivity : two patient studies involving cortical lesions and intracranial recording
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Ibrutinib-associated symptomatic intracerebral haemorrhage following IV thrombolysis for acute ischaemic stroke
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- Journal Article
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- open access
Moyamoya disease emerging as an immune-related angiopathy
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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)