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

J Pouget

Showing results (211-220 of 227) with videos related to

Pageof 23
Sort By:
Journal of Medical Genetics|March 4, 2005
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genesP Aubourg, M Krahn, R Bernard, et al.
Diabetes Care|November 14, 1997
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case reportB H Vialettes, V Paquis-Flucklinger, J F Pelissier, et al.
Neurogenetics|March 25, 2000
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French populationP Latour, N Lévy, M Paret, et al.
Revue Neurologique|September 7, 2013
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe diseaseP Laforêt, K Laloui, B Granger, et al.
Revue Neurologique|April 4, 2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic diseaseA Béhin, C Acquaviva-Bourdain, S Souvannanorath, et al.
Neuropathology and Applied Neurobiology|April 29, 2020
Novel CAPN3 variant associated with an autosomal dominant calpainopathyM Cerino, E Campana-Salort, A Salvi, et al.
Revue Neurologique|December 21, 2005
[Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic strategy. Guidelines of the French CIDP study group]J C Antoine, J P Azulay, P Bouche, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Mitochondrion|December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth, V Procaccio, C Rouzier, et al.
Neurology|December 10, 2008
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North AfricaP Richard, K Gaudon, H Haddad, et al.
Pageof 23

Showing results (211-220 of 227) with videos related to

Sort By:
Pageof 23
Journal of Medical Genetics|March 4, 2005
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genesP Aubourg, M Krahn, R Bernard, et al.
Diabetes Care|November 14, 1997
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case reportB H Vialettes, V Paquis-Flucklinger, J F Pelissier, et al.
Neurogenetics|March 25, 2000
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French populationP Latour, N Lévy, M Paret, et al.
Revue Neurologique|September 7, 2013
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe diseaseP Laforêt, K Laloui, B Granger, et al.
Revue Neurologique|April 4, 2016
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic diseaseA Béhin, C Acquaviva-Bourdain, S Souvannanorath, et al.
Neuropathology and Applied Neurobiology|April 29, 2020
Novel CAPN3 variant associated with an autosomal dominant calpainopathyM Cerino, E Campana-Salort, A Salvi, et al.
Revue Neurologique|December 21, 2005
[Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic strategy. Guidelines of the French CIDP study group]J C Antoine, J P Azulay, P Bouche, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Mitochondrion|December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth, V Procaccio, C Rouzier, et al.
Neurology|December 10, 2008
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North AfricaP Richard, K Gaudon, H Haddad, et al.
Pageof 23