Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

O Musumeci

Showing results (21-30 of 39) with videos related to

Pageof 4
Sort By:
Clinical Genetics|January 11, 2011
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutationsA Arnoldi, C Crimella, E Tenderini, et al.
Human Mutation|May 18, 2006
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGLS Lucchiari, S Pagliarani, S Salani, et al.
Neurology|December 17, 2008
Management and treatment of glycogenosis type IIB Bembi, E Cerini, C Danesino, et al.
Neurology|December 17, 2008
Diagnosis of glycogenosis type IIB Bembi, E Cerini, C Danesino, et al.
Archives of Neurology|February 19, 2000
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseR Fernández, C Navarro, A L Andreu, et al.
Neurology|June 27, 2001
Surprises of genetic engineering: a possible model of polyglucosan body diseaseN Raben, M Danon, N Lu, et al.
Cell Biochemistry and Function|August 26, 2016
MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2BM Aguennouz, C Lo Giudice, N Licata, et al.
Neurology|April 11, 2001
Familial cerebellar ataxia with muscle coenzyme Q10 deficiencyO Musumeci, A Naini, A E Slonim, et al.
Journal of Medical Genetics|February 7, 2009
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumC Crimella, A Arnoldi, F Crippa, et al.
European Journal of Neurology|April 9, 2010
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseasesV A Sansone, M Panzeri, M Montanari, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Clinical Genetics|January 11, 2011
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutationsA Arnoldi, C Crimella, E Tenderini, et al.
Human Mutation|May 18, 2006
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGLS Lucchiari, S Pagliarani, S Salani, et al.
Neurology|December 17, 2008
Management and treatment of glycogenosis type IIB Bembi, E Cerini, C Danesino, et al.
Neurology|December 17, 2008
Diagnosis of glycogenosis type IIB Bembi, E Cerini, C Danesino, et al.
Archives of Neurology|February 19, 2000
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseR Fernández, C Navarro, A L Andreu, et al.
Neurology|June 27, 2001
Surprises of genetic engineering: a possible model of polyglucosan body diseaseN Raben, M Danon, N Lu, et al.
Cell Biochemistry and Function|August 26, 2016
MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2BM Aguennouz, C Lo Giudice, N Licata, et al.
Neurology|April 11, 2001
Familial cerebellar ataxia with muscle coenzyme Q10 deficiencyO Musumeci, A Naini, A E Slonim, et al.
Journal of Medical Genetics|February 7, 2009
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumC Crimella, A Arnoldi, F Crippa, et al.
European Journal of Neurology|April 9, 2010
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseasesV A Sansone, M Panzeri, M Montanari, et al.
Pageof 4