Lista de obras - Francesca Cavalcanti - Dominio Público Uruguay

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

artículo científico publicado en 2018

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease

artículo científico publicado en 2016

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1

artículo científico publicado en 1993

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

artículo científico publicado en 1998

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

artículo científico publicado en 2000

An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

scientific article published on January 2009

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

artículo científico publicado en 1997

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

article

Determinants of onset age in Friedreich's ataxia

artículo científico publicado en 1998

Evidence of a genetic marker associated with early onset in Friedreich's ataxia

artículo científico publicado en 1993

Expanding the global prevalence of spinocerebellar ataxia type 42.

artículo científico publicado en 2018

Frataxin fracas

artículo científico publicado en 1997

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

artículo científico publicado en 1996

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

artículo científico publicado en 1999

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

artículo científico publicado en 1995

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

artículo científico publicado en 1991

Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.

artículo científico publicado en 1994

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

artículo científico publicado en 2018

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

artículo científico publicado en 1994

Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity

scientific article published on 01 January 1993

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

artículo científico publicado en 2013

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

artículo científico publicado en 1998

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy

article

Splicing: is there an alternative contribution to Parkinson's disease?

artículo científico publicado en 2015

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

artículo científico publicado en 1997

Lista de obras de Francesca Cavalcanti

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Determinants of onset age in Friedreich's ataxia

Evidence of a genetic marker associated with early onset in Friedreich's ataxia

Expanding the global prevalence of spinocerebellar ataxia type 42.

Frataxin fracas

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy

Splicing: is there an alternative contribution to Parkinson's disease?

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sj�gren syndrome

Why do some Friedreich's ataxia patients retain tendon reflexes?