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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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LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S91-S91

2016

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Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S235-S235

2015

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Desminopathy in Chile, first cases reported

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S114-S114

2016

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

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S95-S96

2016

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Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

Neurología (Barcelona, Spain), 2017-07, Vol.32 (6), p.377-385

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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G.P.25

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.802-802

2014

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Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S300-S300

2015

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Symptomatic dysferlin gene mutation carriers: characterization of two cases

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

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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G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.835-836

2012

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P.2.14 Isolated cognitive abnormalities associated to DMD mutations

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.753-753

2013

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

Neurología (Barcelona, English ed. ), 2017-07, Vol.32 (6), p.377-385

2017

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P1.20 Complete X-inactivation of the maternally X-chromosome in a girl with Duchenne muscular dystrophy and severe mental retardation

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.647-647

2011

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P2.30 Caveolinopathy: Further clinical heterogeneity

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.669-669

2011

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HEREDITARY NEUROPATHIES & ALS: P.106 Novel PLEKHG5 mutations in a lower motor neuron disease patient

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S77-S77

2020

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HEREDITARY NEUROPATHIES & ALS

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S77

2020

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P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.615-615

2010

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P.02 Mild nemaline myopathy 10 caused by a novel missense homozygous mutation in LMOD3: broadening the phenotype-genotype correlation

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S45

2022

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

LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene

Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia

Desminopathy in Chile, first cases reported

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

Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

A new phenotype of dysferlinopathy with congenital onset

G.P.25

Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

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

G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

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

P1.20 Complete X-inactivation of the maternally X-chromosome in a girl with Duchenne muscular dystrophy and severe mental retardation

P2.30 Caveolinopathy: Further clinical heterogeneity

HEREDITARY NEUROPATHIES & ALS: P.106 Novel PLEKHG5 mutations in a lower motor neuron disease patient

HEREDITARY NEUROPATHIES & ALS

P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients

P.02 Mild nemaline myopathy 10 caused by a novel missense homozygous mutation in LMOD3: broadening the phenotype-genotype correlation

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

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