N Nardocci

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. doi request reprint Myoclonus-dystonia syndrome
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy
    Handb Clin Neurol 100:563-75. 2011
  2. pmc Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
    Filippo Maria Santorelli
    Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy
    Orphanet J Rare Dis 8:19. 2013
  3. doi request reprint Axonal dystrophies
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Electronic address
    Handb Clin Neurol 113:1919-24. 2013
  4. ncbi request reprint Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
    N Nardocci
    Department of Child Neurology, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
    Neurology 60:335-7. 2003
  5. ncbi request reprint Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy
    Mov Disord 23:28-34. 2008
  6. doi request reprint The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration
    L Chiapparini
    Department of Neuroradiology, IRCCS Neurological Institute Carlo Besta, Milano, Italy
    Neuropediatrics 42:159-62. 2011
  7. doi request reprint Polymyography in the diagnosis of childhood onset movement disorders
    C Canavese
    UO Neuropsichiatria Infantile, Fondazione I R C C S Istituto Neurologico Carlo Besta, Milano, Italy
    Eur J Paediatr Neurol 12:480-3. 2008
  8. ncbi request reprint Persistent fixed torticollis due to Atlanto-axial rotatory fixation: report of 4 pediatric cases
    L Chiapparini
    Department of Neuroradiology, National Neurological Institute C Besta, Milano, Italy
    Neuropediatrics 36:45-9. 2005
  9. ncbi request reprint GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations
    B Garavaglia
    Unità Operativa di Neurogenetica Molecolare, Istituto Nazionale Neurologico IRCCS Carlo Besta, via L Temolo 4, 20126 Milano, Italy
    J Inherit Metab Dis 27:455-63. 2004
  10. doi request reprint Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis
    L Chiapparini
    Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Neurol Sci 32:473-7. 2011

Collaborators

Detail Information

Publications16

  1. doi request reprint Myoclonus-dystonia syndrome
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy
    Handb Clin Neurol 100:563-75. 2011
    ....
  2. pmc Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
    Filippo Maria Santorelli
    Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy
    Orphanet J Rare Dis 8:19. 2013
    ..To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations...
  3. doi request reprint Axonal dystrophies
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Electronic address
    Handb Clin Neurol 113:1919-24. 2013
    ..Atypical NAD refers to all patients who differ from the classical phenotype in term of age at onset and disease progression. Mutations in PLA2G6 gene are found both in classic and atypical INAD patients...
  4. ncbi request reprint Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
    N Nardocci
    Department of Child Neurology, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
    Neurology 60:335-7. 2003
    ..Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene...
  5. ncbi request reprint Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families
    Nardo Nardocci
    Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy
    Mov Disord 23:28-34. 2008
    ..The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases...
  6. doi request reprint The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration
    L Chiapparini
    Department of Neuroradiology, IRCCS Neurological Institute Carlo Besta, Milano, Italy
    Neuropediatrics 42:159-62. 2011
    ..Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN...
  7. doi request reprint Polymyography in the diagnosis of childhood onset movement disorders
    C Canavese
    UO Neuropsichiatria Infantile, Fondazione I R C C S Istituto Neurologico Carlo Besta, Milano, Italy
    Eur J Paediatr Neurol 12:480-3. 2008
    ..Aim of the study was to verify the contribution of polymyography in the classification of these movement disorders and in their aetiological definition...
  8. ncbi request reprint Persistent fixed torticollis due to Atlanto-axial rotatory fixation: report of 4 pediatric cases
    L Chiapparini
    Department of Neuroradiology, National Neurological Institute C Besta, Milano, Italy
    Neuropediatrics 36:45-9. 2005
    ..AARF must be considered in all the patients with persistent painful torticollis...
  9. ncbi request reprint GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations
    B Garavaglia
    Unità Operativa di Neurogenetica Molecolare, Istituto Nazionale Neurologico IRCCS Carlo Besta, via L Temolo 4, 20126 Milano, Italy
    J Inherit Metab Dis 27:455-63. 2004
    ..Complementation analysis in yeast is a useful tool for confirming the pathogenetic effect of GCH1 mutations...
  10. doi request reprint Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis
    L Chiapparini
    Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Neurol Sci 32:473-7. 2011
    ..Bone marrow transplantation was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic findings, thus avoiding a delay in diagnosis...
  11. doi request reprint EFNS guidelines on diagnosis and treatment of primary dystonias
    A Albanese
    Istituto Neurologico Carlo Besta, Milan, Italy Università Cattolica del Sacro Cuore, Milan, Italy
    Eur J Neurol 18:5-18. 2011
    ..to provide a revised version of earlier guidelines published in 2006...
  12. ncbi request reprint Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases
    S Franceschetti
    Neurological Institute C Besta, Milan, Italy
    Acta Neurol Scand 87:219-23. 1993
    ..Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others...
  13. doi request reprint Impaired body movement representation in DYT1 mutation carriers
    M Fiorio
    Department of Neurological and Vision Sciences, Section of Rehabilitative Neurology, University of Verona, Via Casorati 43, 37131 Verona, Italy
    Clin Neurophysiol 119:1864-9. 2008
    ..Our aim was to investigate whether the DYT1 mutation impairs the inner simulation of movements, a fundamental function for motor planning and execution, which relies upon cortical and subcortical systems, dysfunctional in dystonia...
  14. ncbi request reprint Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis
    N Cannelli
    Molecular Medicine and Neurology, IRCCS Bambino Gesù Children s Hospital, Rome, Italy
    Neuropediatrics 38:46-9. 2007
    ..We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset...
  15. ncbi request reprint Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
    T D Taylor
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA
    Nat Genet 14:479-81. 1996
    ..The HSS gene maps to an interval flanked by D20S906 and D20S116 on chromosome 20p12.3-p13. Linkage was confirmed in nine additional families of diverse ethnic backgrounds...
  16. doi request reprint Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72086 Tübingen, Germany
    Neurology 70:2261-2. 2008