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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Neurology, 2012-03, Vol.78 (12), p.897-903

2012

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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182

2011

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta neuropathologica, 2020-03, Vol.139 (3), p.565-582

2020

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HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe

Journal of the neurological sciences, 2020-07, Vol.414, p.116875-116875, Article 116875

2020

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Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

Neuropathology and applied neurobiology, 2021-02, Vol.47 (2), p.352-356

2021

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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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MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Neurology, 2010-08, Vol.75 (8), p.732-741

2010

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Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Brain (London, England : 1878), 2008-11, Vol.131 (11), p.3051-3061

2008

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Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients

Neurology, 2011-01, Vol.76 (2), p.172-178

2011

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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.548-553

2015

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Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.789-795

2016

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Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia

Journal of neurology, 2012-05, Vol.259 (5), p.851-854

2012

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Long-term follow up of patients with dystrophin deficiency and isolated hyperCKemia

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S198-S199

2015

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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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PP09.7 – 2375: Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE1267delG mutation. A long-term follow-up

European journal of paediatric neurology, 2015-05, Vol.19, p.S66-S66

2015

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G.P.143

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.844-844

2014

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.473-480

2016

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Gestión de la tutoría telemática en educación a distancia

Cuadernos de investigación educativa, 2018-03, Vol.1 (6), p.11-24

2018

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Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

Clinical genetics, 2012-05, Vol.81 (5), p.491-494

2012

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Ultrasonic characterization of pork meat salting

IOP conference series. Materials Science and Engineering, 2012-01, Vol.42 (1), p.12043-4

2012

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EP.100Impact of NGS on HyperCKemia diagnosis

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S181-S182

2019

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APPLICATION OF NEXT GENERATION TECHNOLOGIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S145-S146

2021

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APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.315 Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S145-S146

2021

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P37 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S16-S17

2012

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DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S99

2018

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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe

Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

Molecular characterization of congenital myasthenic syndromes in Spain

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia

Long-term follow up of patients with dystrophin deficiency and isolated hyperCKemia

Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia

PP09.7 – 2375: Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE1267delG mutation. A long-term follow-up

G.P.143

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Gestión de la tutoría telemática en educación a distancia

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

Ultrasonic characterization of pork meat salting

EP.100Impact of NGS on HyperCKemia diagnosis

APPLICATION OF NEXT GENERATION TECHNOLOGIES

APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.315 Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood

P37 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

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