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E Bertini

Showing results (161-170 of 205) with videos related to

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Minerva Pediatrica|November 26, 2009
[Multidisciplinary approach]A Bartuli, E Bertini, F Callea, et al.
Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.
Clinical Genetics|February 20, 2018
Expanding the histopathological spectrum of CFL2-related myopathiesF Fattori, C Fiorillo, C Rodolico, et al.
Neurology|April 27, 2005
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 childrenM Henneke, N Preuss, V Engelbrecht, et al.
Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Neuromuscular Disorders : NMD|March 8, 2013
Duchenne muscular dystrophy and epilepsyM Pane, S Messina, C Bruno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2026
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature reviewD Diodato, L Bosco, M Catteruccia, et al.
Clinical Genetics|July 28, 2016
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7M Di Nottia, M Masciullo, D Verrigni, et al.
Annals of Human Genetics|January 31, 2006
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophiesC Vaurs-Barriere, M-N Bonnet-Dupeyron, P Combes, et al.
Pageof 21

Showing results (161-170 of 205) with videos related to

Sort By:
Pageof 21
Minerva Pediatrica|November 26, 2009
[Multidisciplinary approach]A Bartuli, E Bertini, F Callea, et al.
Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.
Clinical Genetics|February 20, 2018
Expanding the histopathological spectrum of CFL2-related myopathiesF Fattori, C Fiorillo, C Rodolico, et al.
Neurology|April 27, 2005
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 childrenM Henneke, N Preuss, V Engelbrecht, et al.
Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Neuromuscular Disorders : NMD|March 8, 2013
Duchenne muscular dystrophy and epilepsyM Pane, S Messina, C Bruno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2026
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature reviewD Diodato, L Bosco, M Catteruccia, et al.
Clinical Genetics|July 28, 2016
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7M Di Nottia, M Masciullo, D Verrigni, et al.
Annals of Human Genetics|January 31, 2006
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophiesC Vaurs-Barriere, M-N Bonnet-Dupeyron, P Combes, et al.
Pageof 21