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Molecular characterization of congenital myasthenic syndromes in Spain

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1087-1098

2017

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Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

Neurologia (Barcelona, Spain), 2017-07, Vol.32 (6), p.377

2017

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A new phenotype of dysferlinopathy with congenital onset

Neuromuscular disorders : NMD, 2009-01, Vol.19 (1), p.21-25

2009

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Symptomatic dysferlin gene mutation carriers: characterization of two cases

Neurology, 2007-04, Vol.68 (16), p.1284-1289

2007

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Calpainopathy—A Survey of Mutations and Polymorphisms

American journal of human genetics, 1999-06, Vol.64 (6), p.1524-1540

1999

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Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

European journal of neurology, 2011-07, Vol.18 (7), p.1021-1023

2011

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Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

Clinical genetics, 2012-12, Vol.82 (6), p.574-578

2012

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Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.69-76

2007

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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

The Journal of pediatrics, 2019-01, Vol.204, p.305-313.e14

2019

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LMNA mutation in progeroid syndrome in association with strokes

European journal of medical genetics, 2011-11, Vol.54 (6), p.e576-e579

2011

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Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

Neurology, 2000-03, Vol.54 (5), p.1075-1079

2000

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Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Annals of neurology, 2001-01, Vol.49 (1), p.130-134

2001

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A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

Prenatal diagnosis, 1984-11, Vol.4 (7), p.45-67

1984

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Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Journal of neurology, 1999-09, Vol.246 (9), p.825-829

1999

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Recommendations of good practices for molecular diagnosis of Huntington disease

Medicina clinica, 2012-05, Vol.138 (13), p.584

2012

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Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP

American journal of human genetics, 1989-05, Vol.44 (5), p.704-710

1989

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A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

Neuromuscular disorders : NMD, 2004-05, Vol.14 (5), p.321-324

2004

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Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene

European journal of pediatrics, 1994-07, Vol.153 (7), p.492-494

1994

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Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER

Medicina clinica, 2011-03, Vol.136 (7), p.303

2011

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Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres

Prenatal diagnosis, 1986-09, Vol.6 (5), p.315-350

1986

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HIGH PREVALENCE OF THE β‐THALASSAEMIA NONSENSE 37 MUTATION IN CATALONIANS FROM THE EBRO DELTA

British journal of haematology, 1992-05, Vol.81 (1), p.126-127

1992

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DMD carrier detection in a female with mosaic Turner's syndrome

Journal of medical genetics, 1991-03, Vol.28 (3), p.209-210

1991

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Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

Human genetics, 1989-09, Vol.83 (2), p.175-178

1989

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Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population

Archives of neurology (Chicago), 2005-08, Vol.62 (8), p.1256

2005

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Molecular characterization of congenital myasthenic syndromes in Spain

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

A new phenotype of dysferlinopathy with congenital onset

Symptomatic dysferlin gene mutation carriers: characterization of two cases

Calpainopathy—A Survey of Mutations and Polymorphisms

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

LMNA mutation in progeroid syndrome in association with strokes

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Recommendations of good practices for molecular diagnosis of Huntington disease

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene

Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER

Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres

HIGH PREVALENCE OF THE β‐THALASSAEMIA NONSENSE 37 MUTATION IN CATALONIANS FROM THE EBRO DELTA

DMD carrier detection in a female with mosaic Turner's syndrome

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population

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