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

Mirella Filocamo

Showing results (11-20 of 103) with videos related to

Pageof 11
Sort By:
Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Genetics|April 10, 2002
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severityStefano Regis, Fabio Corsolini, Marina Stroppiano, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patientStefano Regis, Fabio Corsolini, Verena Ricci, et al.
Molecular Genetics and Metabolism|September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 27, 2004
Genetic disorders affecting white matter in the pediatric ageMaja Di Rocco, Roberta Biancheri, Andrea Rossi, et al.
Blood Cells, Molecules & Diseases|November 19, 2016
UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher diseaseHila Braunstein, Gali Maor, Gaya Chicco, et al.
Epilepsia|August 27, 2004
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.
Orphanet Journal of Rare Diseases|September 12, 2013
Unfolded protein response in Gaucher disease: from human to DrosophilaGali Maor, Sigal Rencus-Lazar, Mirella Filocamo, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Pageof 11

Showing results (11-20 of 103) with videos related to

Sort By:
Pageof 11
Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Genetics|April 10, 2002
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severityStefano Regis, Fabio Corsolini, Marina Stroppiano, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patientStefano Regis, Fabio Corsolini, Verena Ricci, et al.
Molecular Genetics and Metabolism|September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 27, 2004
Genetic disorders affecting white matter in the pediatric ageMaja Di Rocco, Roberta Biancheri, Andrea Rossi, et al.
Blood Cells, Molecules & Diseases|November 19, 2016
UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher diseaseHila Braunstein, Gali Maor, Gaya Chicco, et al.
Epilepsia|August 27, 2004
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.
Orphanet Journal of Rare Diseases|September 12, 2013
Unfolded protein response in Gaucher disease: from human to DrosophilaGali Maor, Sigal Rencus-Lazar, Mirella Filocamo, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Pageof 11