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Author Details

Marisol Mirabelli-Badenier
Istituto G. Gaslini
2010
19
13
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
31481303A clinical diagnostic algorithm for early onset cerebellar ataxia.Eur J Paediatr Neurol2019
25156245A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.Metab Brain Dis2015
26052347Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.Mol Cytogenet2015
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
25686202Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?Neuropediatrics2015
23953644Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.Eur J Paediatr Neurol2014
25478008Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.Mol Cytogenet2014
24293309Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia.J Child Neurol2014
23564332EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.J Neurol2013
21470160Statins in the treatment of acute ischemic stroke.Curr Pharm Biotechnol2012
23035971Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.BMC Med Genet2012
22723063The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.AJNR Am J Neuroradiol2012
22507885Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia.Arch Neurol2012
22248042Pathophysiological role of inflammatory molecules in paediatric ischaemic brain injury.Eur J Clin Invest2012
21737325Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments.Eur J Paediatr Neurol2012
21174009CC and CXC chemokines are pivotal mediators of cerebral injury in ischaemic stroke.Thromb Haemost2011
21932301Movement lateralization and bimanual coordination in children with Tourette syndrome.Mov Disord2011
21457564Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.Orphanet J Rare Dis2011
20105645Anti-N-methyl-D-aspartate-receptor encephalitis in a four-year-old girl.J Pediatr2010
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Collaborators

Eugen Boltshauser
Children's University Hospital
Co-authored papers 2
Enza Maria Valente
University of Pavia
Co-authored papers 2
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
Maja Steinlin
Children's University Hospital, Bern University Hospital, University of Bern
Co-authored papers 2
Susanne Roosing
Radboud University Medical Center
Co-authored papers 1
Jennifer L Silhavy
University of California
Co-authored papers 1
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Marta Romani
Sapienza University of Rome
Co-authored papers 1
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 1
Francesco Emma
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 1
Joanne M Drautz
University of New Mexico
Co-authored papers 1
Elide Miccinilli
Fondazione IRCCS Casa Sollievo della Sofferenza
Co-authored papers 1
Pedro Aza-Blanc
Sanford-Burnham-Prebys Medical Discovery Institute
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Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
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Brian D Dynlacht
New York University Cancer Institute, New York University School of Medicine
Co-authored papers 1
Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Co-authored papers 1
Rose-Mary Boustany
American University of Beirut Medical Center
Co-authored papers 1
Petter Str??mme
University of Oslo
Co-authored papers 1
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 1
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 1
William B Dobyns
University of Minnesota
Co-authored papers 1
Ji Eun Lee
Soonchunhyang University College of Medicine, Bucheon Hospital
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Joon Kim
Korea Advanced Institute of Science and Technology (KAIST)
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Faruk Incecik
Cukurova University Faculty of Medicine
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Susanne Heynen-Genel
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