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F L Conforti

Showing results (11-20 of 37) with videos related to

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Human Genetics|June 29, 2007
Gene symbol: NOTCH3R Mazzei, F L Conforti, C Ungaro, et al.
Human Genetics|June 29, 2007
Gene symbol: NOTCH3R Mazzei, F L Conforti, C Ungaro, et al.
Human Genetics|November 28, 2006
Gene symbol: MECP2. Disease: Rett syndromeF L Conforti, R Mazzei, A Patitucci, et al.
European Journal of Neurology|January 3, 2013
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegiaA Magariello, C Tortorella, A Patitucci, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 10, 2004
An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 geneD Guidetti, B Casali, R L Mazzei, et al.
Acta Neurologica Scandinavica|May 4, 1999
Hyperekplexia in a patient with a brainstem vascular anomalyA Gambardella, P Valentino, G Annesi, et al.
European Journal of Neurology|February 13, 2014
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosumA Magariello, L Citrigno, S Zuchner, et al.
Neurology|August 29, 2001
Juvenile Huntington's disease presenting as progressive myoclonic epilepsyA Gambardella, M Muglia, A Labate, et al.
Journal of Neuroscience Research|November 14, 2008
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 geneC Ungaro, R Mazzei, F L Conforti, et al.
Clinical Genetics|March 14, 2008
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2M Muglia, A Magariello, L Citrigno, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Human Genetics|June 29, 2007
Gene symbol: NOTCH3R Mazzei, F L Conforti, C Ungaro, et al.
Human Genetics|June 29, 2007
Gene symbol: NOTCH3R Mazzei, F L Conforti, C Ungaro, et al.
Human Genetics|November 28, 2006
Gene symbol: MECP2. Disease: Rett syndromeF L Conforti, R Mazzei, A Patitucci, et al.
European Journal of Neurology|January 3, 2013
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegiaA Magariello, C Tortorella, A Patitucci, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 10, 2004
An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 geneD Guidetti, B Casali, R L Mazzei, et al.
Acta Neurologica Scandinavica|May 4, 1999
Hyperekplexia in a patient with a brainstem vascular anomalyA Gambardella, P Valentino, G Annesi, et al.
European Journal of Neurology|February 13, 2014
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosumA Magariello, L Citrigno, S Zuchner, et al.
Neurology|August 29, 2001
Juvenile Huntington's disease presenting as progressive myoclonic epilepsyA Gambardella, M Muglia, A Labate, et al.
Journal of Neuroscience Research|November 14, 2008
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 geneC Ungaro, R Mazzei, F L Conforti, et al.
Clinical Genetics|March 14, 2008
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2M Muglia, A Magariello, L Citrigno, et al.
Pageof 4