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A Ferlini

Showing results (61-70 of 88) with videos related to

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Annals of Neurology|August 1, 1995
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)M Ragno, E Tournier-Lasserve, M G Fiori, et al.
Clinical Genetics|June 14, 2000
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47A Ferlini, L Obici, E Manzati, et al.
Clinical Genetics|January 1, 1996
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findingsA Ferlini, F Salvi, A Uncini, et al.
Human Mutation|January 1, 1992
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosisM R Almeida, A Ferlini, A Forabosco, et al.
Human Genetics|September 1, 1995
Haplotype analysis of common transthyretin mutationsM R Almeida, N Aoyama-Oishi, Y Sakaki, et al.
Neurology|December 2, 2009
Autosomal recessive Bethlem myopathyF Gualandi, A Urciuolo, E Martoni, et al.
Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Human Molecular Genetics|December 1, 2001
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathyC Bastianutto, J A Bestard, K Lahnakoski, et al.
Gene|January 28, 2006
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin geneF Gualandi, P Rimessi, C Trabanelli, et al.
Human Genetics|December 1, 1988
Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian originM J Saraiva, P P Costa, M do R Almeida, et al.
Pageof 9

Showing results (61-70 of 88) with videos related to

Sort By:
Pageof 9
Annals of Neurology|August 1, 1995
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)M Ragno, E Tournier-Lasserve, M G Fiori, et al.
Clinical Genetics|June 14, 2000
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47A Ferlini, L Obici, E Manzati, et al.
Clinical Genetics|January 1, 1996
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findingsA Ferlini, F Salvi, A Uncini, et al.
Human Mutation|January 1, 1992
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosisM R Almeida, A Ferlini, A Forabosco, et al.
Human Genetics|September 1, 1995
Haplotype analysis of common transthyretin mutationsM R Almeida, N Aoyama-Oishi, Y Sakaki, et al.
Neurology|December 2, 2009
Autosomal recessive Bethlem myopathyF Gualandi, A Urciuolo, E Martoni, et al.
Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Human Molecular Genetics|December 1, 2001
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathyC Bastianutto, J A Bestard, K Lahnakoski, et al.
Gene|January 28, 2006
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin geneF Gualandi, P Rimessi, C Trabanelli, et al.
Human Genetics|December 1, 1988
Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian originM J Saraiva, P P Costa, M do R Almeida, et al.
Pageof 9