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

Antonio Toscano

Showing results (181-190 of 223) with videos related to

Pageof 23
Sort By:
European Journal of Neurology|August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scaleHarmke A van Kooten, Mike C Horton, Stephan Wenninger, et al.
Archives of Neurology|May 10, 2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca Crippa, Chris Panzeri, Andrea Martinuzzi, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Orphanet Journal of Rare Diseases|November 25, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Renata S Scalco, Alejandro Lucia, Alfredo Santalla, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
microRNAs as biomarkers in Pompe diseaseAntonietta Tarallo, Annamaria Carissimo, Francesca Gatto, et al.
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Neurology|October 3, 2014
LMNA-associated myopathies: the Italian experience in a large cohort of patientsLorenzo Maggi, Adele D'Amico, Antonella Pini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 23

Showing results (181-190 of 223) with videos related to

Sort By:
Pageof 23
European Journal of Neurology|August 29, 2024
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scaleHarmke A van Kooten, Mike C Horton, Stephan Wenninger, et al.
Archives of Neurology|May 10, 2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca Crippa, Chris Panzeri, Andrea Martinuzzi, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Orphanet Journal of Rare Diseases|November 25, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Renata S Scalco, Alejandro Lucia, Alfredo Santalla, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
microRNAs as biomarkers in Pompe diseaseAntonietta Tarallo, Annamaria Carissimo, Francesca Gatto, et al.
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Neurology|October 3, 2014
LMNA-associated myopathies: the Italian experience in a large cohort of patientsLorenzo Maggi, Adele D'Amico, Antonella Pini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 23