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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

American journal of medical genetics, 2003-06, Vol.119A (3), p.279-282

2003

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Trinucleotide repeat length instability and age of onset in Huntington's disease

Nature genetics, 1993-08, Vol.4 (4), p.387-392

1993

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Neurology, 2012-03, Vol.78 (10), p.690

2012

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Reduced Penetrance of the Huntington's Disease Mutation

Human molecular genetics, 1997-05, Vol.6 (5), p.775-779

1997

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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I

American journal of human genetics, 1994-06, Vol.54 (6), p.959-965

1994

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The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

Brain (London, England : 1878), 1994-08, Vol.117 (4), p.645-649

1994

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Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

American journal of human genetics, 1996-07, Vol.59 (1), p.16-22

1996

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Cavernous angiomas of the nervous system in Italy: clinical and genetic study

Neurological sciences, 2000-06, Vol.21 (3), p.129-134

2000

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The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

American journal of human genetics, 1993-08, Vol.53 (2), p.391-400

1993

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The HbA/HbA2 ratio in newborns and its correlation with fetal maturity

British journal of haematology, 1984-03, Vol.56 (3), p.465-471

1984

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Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster

Annals of human genetics, 1991-01, Vol.55 (1), p.7-15

1991

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Family and molecular data for a fine analysis of age at onset in Huntington disease

American journal of medical genetics, 2000-12, Vol.95 (4), p.366-373

2000

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Predictive testing for Huntington's disease: ten years' experience in two Italian centres

Italian journal of neurological sciences, 1998-04, Vol.19 (2), p.68-74

1998

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Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

Human molecular genetics, 1994-07, Vol.3 (7), p.1129-1132

1994

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Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families

Human heredity, 1984-01, Vol.34 (4), p.197

1984

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Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Human genetics, 1994-10, Vol.94 (4), p.367-374

1994

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Epidemiological and linkage studies on huntington's disease in Italy

Human genetics, 1990-07, Vol.85 (2), p.165-170

1990

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Frequency and types of deletional α+-thalassemia in Northern Sardinia

Human genetics, 1985, Vol.71 (2), p.147-149

1985

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A further case of G gamma-beta + hereditary persistence of Hb F associated to the -202 C----G mutation in the G gamma promoter region

Hemoglobin, 1987, Vol.11 (4), p.389-393

1987

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Prevalence of metabolic syndrome and its relationship with clinically prevalent cardiovascular disease in the Veneto region, northeastern Italy

Metabolic syndrome and related disorders, 2012-02, Vol.10 (1), p.56

2012

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The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset

Annals of human genetics, 2007-05, Vol.71 (3), p.295-301

2007

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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease

Biochemical and biophysical research communications, 2012-08, Vol.424 (3), p.404-408

2012

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Degree of control of physician-diagnosed asthma and COPD in Italy

Monaldi archives for chest disease, 2007-03, Vol.67 (1), p.15-22

2007

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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

Trinucleotide repeat length instability and age of onset in Huntington's disease

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Reduced Penetrance of the Huntington's Disease Mutation

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

The HbA/HbA2 ratio in newborns and its correlation with fetal maturity

Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster

Family and molecular data for a fine analysis of age at onset in Huntington disease

Predictive testing for Huntington's disease: ten years' experience in two Italian centres

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Epidemiological and linkage studies on huntington's disease in Italy

Frequency and types of deletional α+-thalassemia in Northern Sardinia

A further case of G gamma-beta + hereditary persistence of Hb F associated to the -202 C----G mutation in the G gamma promoter region

Prevalence of metabolic syndrome and its relationship with clinically prevalent cardiovascular disease in the Veneto region, northeastern Italy

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease

Degree of control of physician-diagnosed asthma and COPD in Italy

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