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R Mazzei

Showing results (31-40 of 53) with videos related to

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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.
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.
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.
Neurology|August 29, 2001
Juvenile Huntington's disease presenting as progressive myoclonic epilepsyA Gambardella, M Muglia, A Labate, 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.
Neurology|April 27, 2005
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)P Valentino, F L Conforti, D Pirritano, et al.
Journal of Neurology|October 17, 1998
CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocityA Gambardella, G Annesi, F Bono, et al.
Annals of Neurology|November 18, 1998
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron geneA Gambardella, R Mazzei, A Toscano, et al.
Journal of the Neurological Sciences|June 19, 2014
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafnessM Muglia, L Citrigno, E D'Errico, et al.
Acta Neurologica Scandinavica|January 7, 2004
Gene conversion events in adult-onset spinal muscular atrophyR Mazzei, A Gambardella, F L Conforti, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
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.
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.
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.
Neurology|August 29, 2001
Juvenile Huntington's disease presenting as progressive myoclonic epilepsyA Gambardella, M Muglia, A Labate, 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.
Neurology|April 27, 2005
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)P Valentino, F L Conforti, D Pirritano, et al.
Journal of Neurology|October 17, 1998
CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocityA Gambardella, G Annesi, F Bono, et al.
Annals of Neurology|November 18, 1998
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron geneA Gambardella, R Mazzei, A Toscano, et al.
Journal of the Neurological Sciences|June 19, 2014
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafnessM Muglia, L Citrigno, E D'Errico, et al.
Acta Neurologica Scandinavica|January 7, 2004
Gene conversion events in adult-onset spinal muscular atrophyR Mazzei, A Gambardella, F L Conforti, et al.
Pageof 6