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List of works by Pilar Camaño

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

scientific article published on 01 August 2006

Clinical features of facioscapulohumeral muscular dystrophy 2.

scientific article

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.

scientific article published on 22 September 2008

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

scientific article published on 18 March 2015

Hybridization analysis of D4Z4 repeat arrays linked to FSHD.

scientific article published on 28 November 2006

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

scientific article published on 2 February 2005

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

scientific article

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

scientific article published on 8 November 2012

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

scientific article published on 7 October 2011

Rapidly Reversible Winging Scapula

scientific article published on 01 September 2015

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 ⬇️

scientific article

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