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R Biancheri

Showing results (21-30 of 36) with videos related to

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Human Mutation|June 29, 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1V Ricci, M Stroppiano, F Corsolini, et al.
Clinical Genetics|July 18, 2002
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseR Biancheri, E Verbeek, A Rossi, et al.
Neuropediatrics|September 3, 2005
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disordersM Di Rocco, A Rossi, G Parenti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2013
Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathyM Mirabelli-Badenier, R Biancheri, G Morana, et al.
Neuropediatrics|June 24, 2010
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11L Siri, F M Battaglia, A Tessa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 11, 2007
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathyS Orcesi, A Pessagno, R Biancheri, et al.
Neurogenetics|June 25, 2014
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onsetL Armstrong, R Biancheri, C Shyr, et al.
Neurogenetics|September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseR Biancheri, A Rossi, H A Verbeek, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
Neurology|May 24, 2006
Expanding the clinical spectrum of POMT1 phenotypeA D'Amico, A Tessa, C Bruno, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Human Mutation|June 29, 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1V Ricci, M Stroppiano, F Corsolini, et al.
Clinical Genetics|July 18, 2002
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseR Biancheri, E Verbeek, A Rossi, et al.
Neuropediatrics|September 3, 2005
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disordersM Di Rocco, A Rossi, G Parenti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2013
Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathyM Mirabelli-Badenier, R Biancheri, G Morana, et al.
Neuropediatrics|June 24, 2010
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11L Siri, F M Battaglia, A Tessa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 11, 2007
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathyS Orcesi, A Pessagno, R Biancheri, et al.
Neurogenetics|June 25, 2014
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onsetL Armstrong, R Biancheri, C Shyr, et al.
Neurogenetics|September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseR Biancheri, A Rossi, H A Verbeek, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
Neurology|May 24, 2006
Expanding the clinical spectrum of POMT1 phenotypeA D'Amico, A Tessa, C Bruno, et al.
Pageof 4