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A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionFriedreich's ataxia: point mutations and clinical presentation of compound heterozygotesLate onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.Splicing: is there an alternative contribution to Parkinson's disease?An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's diseaseIsolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.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.Determinants of onset age in Friedreich's ataxia.Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.Expanding the global prevalence of spinocerebellar ataxia type 42.Why do some Friedreich's ataxia patients retain tendon reflexes?Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalyAtaxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosisLarge Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very RareMutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEPFrataxin fracasA dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1Evidence of a genetic marker associated with early onset in Friedreich's ataxiaIntrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria: A Customized aCGH for the Analysis of Copy Number Variations in Neurological DisordersClinical features and genetic analysis of two siblings with startle disease in an Italian family: a case reportAccuracy of clinical diagnostic criteria for Friedreich's ataxiaBroadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
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հետազոտող
@hy
name
Francesca Cavalcanti
@af
Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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Francesca Cavalcanti
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type
label
Francesca Cavalcanti
@af
Francesca Cavalcanti
@an
Francesca Cavalcanti
@ast
Francesca Cavalcanti
@bar
Francesca Cavalcanti
@bm
Francesca Cavalcanti
@br
Francesca Cavalcanti
@ca
Francesca Cavalcanti
@co
Francesca Cavalcanti
@cs
Francesca Cavalcanti
@cy
prefLabel
Francesca Cavalcanti
@af
Francesca Cavalcanti
@an
Francesca Cavalcanti
@ast
Francesca Cavalcanti
@bar
Francesca Cavalcanti
@bm
Francesca Cavalcanti
@br
Francesca Cavalcanti
@ca
Francesca Cavalcanti
@co
Francesca Cavalcanti
@cs
Francesca Cavalcanti
@cy
P1053
I-3651-2014
P106
P21
P31
P3829
P496
0000-0001-5769-4582