Marisol Mirabelli-Badenier

Summary

Publications

  1. doi Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy
    M Mirabelli-Badenier
    Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy Electronic address
    Eur J Paediatr Neurol 18:72-4. 2014
  2. doi Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia
    Marisol Mirabelli-Badenier
    Units of Child Neuropsychiatry, Giannina Gaslini Institute, Genoa, Italy
    Arch Neurol 69:1064-6. 2012
  3. pmc Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
    Valeria Capra
    Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
    BMC Med Genet 13:93. 2012
  4. doi Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia
    Elisa De Grandis
    Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children s Sciences, University of Genoa, Genoa, Italy
    J Child Neurol 29:1479-85. 2014
  5. doi Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
    Marisol Mirabelli-Badenier
    Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G Gaslini, Genoa, Italy
    Neuropediatrics 46:104-9. 2015
  6. doi A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
    Marisol Mirabelli-Badenier
    UO Neuropsichiatria Istituto Giannina Gaslini, Genoa, Italy
    Metab Brain Dis 30:681-6. 2015
  7. doi EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta Biancheri
    Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
    J Neurol 260:1866-70. 2013

Collaborators

Detail Information

Publications7

  1. doi Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy
    M Mirabelli-Badenier
    Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy Electronic address
    Eur J Paediatr Neurol 18:72-4. 2014
    ..We suggest to re-evaluate the clinical history of all subjects with previous HE diagnosis in order to evaluate the possible diagnosis of anti-NMDAR encephalitis and plan the appropriate management of these patients...
  2. doi Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia
    Marisol Mirabelli-Badenier
    Units of Child Neuropsychiatry, Giannina Gaslini Institute, Genoa, Italy
    Arch Neurol 69:1064-6. 2012
    ..To expand the spectrum of the clinical presentation of anti-glutamic acid decarboxylase antibodies-related limbic encephalitis and to improve the recognition of this entity...
  3. pmc Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
    Valeria Capra
    Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
    BMC Med Genet 13:93. 2012
    ..abstract:..
  4. doi Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia
    Elisa De Grandis
    Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children s Sciences, University of Genoa, Genoa, Italy
    J Child Neurol 29:1479-85. 2014
    ....
  5. doi Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
    Marisol Mirabelli-Badenier
    Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G Gaslini, Genoa, Italy
    Neuropediatrics 46:104-9. 2015
    ..These patterns can be related to different etiologies, and do not suggest specific diagnoses. Primary ION lesion can be characterized by olivary swelling, and the differentiation from typical secondary HOD may be difficult. ..
  6. doi A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
    Marisol Mirabelli-Badenier
    UO Neuropsichiatria Istituto Giannina Gaslini, Genoa, Italy
    Metab Brain Dis 30:681-6. 2015
    ..Conventional and advanced MRI sequences, including diffusion tensor imaging and tractography, were used for the assessment of white matter involvement in the patient. ..
  7. doi EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta Biancheri
    Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
    J Neurol 260:1866-70. 2013
    ..These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia...