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E Bertini

Showing results (171-180 of 205) with videos related to

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Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.
American Journal of Human Genetics|September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlationD Rodriguez, F Gauthier, E Bertini, et al.
European Journal of Neurology|October 22, 2020
Clinical and radiological profile of patients with spinal muscular atrophy type 4P V S Souza, W B V R Pinto, A Ricarte, et al.
Neuromuscular Disorders : NMD|May 18, 2004
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)E Bertini, V Biancalana, A Bolino, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
American Journal of Human Genetics|December 5, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyV Tiranti, K Hoertnagel, R Carrozzo, et al.
Nature Genetics|August 31, 2001
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1K Grohmann, M Schuelke, A Diers, et al.
European Journal of Neurology|October 4, 2020
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersenV A Sansone, G Coratti, M C Pera, et al.
Neuromuscular Disorders : NMD|October 6, 2005
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The NetherlandsE Bertini, A Burghes, K Bushby, et al.
Neurology|May 23, 2007
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesiaM K Bruno, H-Y Lee, G W J Auburger, et al.
Pageof 21

Showing results (171-180 of 205) with videos related to

Sort By:
Pageof 21
Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.
American Journal of Human Genetics|September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlationD Rodriguez, F Gauthier, E Bertini, et al.
European Journal of Neurology|October 22, 2020
Clinical and radiological profile of patients with spinal muscular atrophy type 4P V S Souza, W B V R Pinto, A Ricarte, et al.
Neuromuscular Disorders : NMD|May 18, 2004
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)E Bertini, V Biancalana, A Bolino, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
American Journal of Human Genetics|December 5, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyV Tiranti, K Hoertnagel, R Carrozzo, et al.
Nature Genetics|August 31, 2001
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1K Grohmann, M Schuelke, A Diers, et al.
European Journal of Neurology|October 4, 2020
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersenV A Sansone, G Coratti, M C Pera, et al.
Neuromuscular Disorders : NMD|October 6, 2005
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The NetherlandsE Bertini, A Burghes, K Bushby, et al.
Neurology|May 23, 2007
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesiaM K Bruno, H-Y Lee, G W J Auburger, et al.
Pageof 21