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M.C. Patrosso

National Research Council

13

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330

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Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

2008 Clinical Genetics
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A compound heterozygous patient for two TTR mutations, affected with isolated restrictive amyloidotic cardiomyopathy

1996 Neuromuscular Disorders
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Citations (1)
Two new mutations in the transthyretin gene, leading to polyneuropathy and cardiomyopathy in two unrelated ITalian families

1996 Neuromuscular Disorders
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Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

1995 American Journal of Medical Genetics
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Citations (47)
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

1995 Annals of Neurology
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Citations (52)
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

1994 Human Mutation
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C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

1994 Human Mutation
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Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.

1994 Genomics
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The Exon-Intron Organization of the Human X-Linked Gene (FLN1) Encoding Actin-Binding Protein 280

1994 Genomics
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Citations (29)
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.

1992 The FASEB Journal
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Citations (38)