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E Bertini

Showing results (111-120 of 205) with videos related to

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Neurology|March 17, 1999
Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophyD Restuccia, V Di Lazzaro, M Valeriani, et al.
Biochemical and Biophysical Research Communications|May 18, 1999
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathyG Pepe, B Giusti, E Bertini, et al.
The Journal of Pediatrics|December 1, 1992
Fatal infantile liver failure associated with mitochondrial DNA depletionM R Mazziotta, E Ricci, E Bertini, et al.
Clinical Genetics|April 11, 2016
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxiaS Barresi, M Niceta, P Alfieri, et al.
Neuromuscular Disorders : NMD|January 24, 2007
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locusL Hartley, M Kinali, R Knight, et al.
American Journal of Human Genetics|June 19, 1998
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.
Cell Death and Differentiation|July 23, 2016
Autophagy regulates satellite cell ability to regenerate normal and dystrophic musclesE Fiacco, F Castagnetti, V Bianconi, et al.
American Journal of Medical Genetics|April 1, 1992
Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infectionsE Bertini, R Cusmai, G de Saint Basile, et al.
Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 21, 2018
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues"V A Sansone, M Pane, S Messina, et al.
Pageof 21

Showing results (111-120 of 205) with videos related to

Sort By:
Pageof 21
Neurology|March 17, 1999
Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophyD Restuccia, V Di Lazzaro, M Valeriani, et al.
Biochemical and Biophysical Research Communications|May 18, 1999
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathyG Pepe, B Giusti, E Bertini, et al.
The Journal of Pediatrics|December 1, 1992
Fatal infantile liver failure associated with mitochondrial DNA depletionM R Mazziotta, E Ricci, E Bertini, et al.
Clinical Genetics|April 11, 2016
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxiaS Barresi, M Niceta, P Alfieri, et al.
Neuromuscular Disorders : NMD|January 24, 2007
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locusL Hartley, M Kinali, R Knight, et al.
American Journal of Human Genetics|June 19, 1998
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.
Cell Death and Differentiation|July 23, 2016
Autophagy regulates satellite cell ability to regenerate normal and dystrophic musclesE Fiacco, F Castagnetti, V Bianconi, et al.
American Journal of Medical Genetics|April 1, 1992
Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infectionsE Bertini, R Cusmai, G de Saint Basile, et al.
Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 21, 2018
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues"V A Sansone, M Pane, S Messina, et al.
Pageof 21