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Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Neuropathology and applied neurobiology, 2021-02, Vol.47 (2), p.283-296

2021

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Acidification-induced cellular changes in Symbiodinium isolated from Mussismilia braziliensis

PloS one, 2019-08, Vol.14 (8), p.e0220130-e0220130

2019

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Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Neurology, 2010-07, Vol.75 (4), p.316

2010

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Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders

Neurologia (Barcelona, Spain), 2018-01, Vol.33 (1), p.35-46

2018

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Informe de la Fundación Del Cerebro sobre el impacto social de la esclerosis lateral amiotrófica y las enfermedades neuromusculares

Neurología (Barcelona, Spain), 2018-01, Vol.33 (1), p.35-46

2018

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Diversity of Secondary Metabolites in the Liverwort Syzygiella rubricaulis (Nees) Stephani (Jamesoniellaceae, Marchantiophyta) from Neotropical High Mountains

Chemistry & biodiversity, 2018-09, Vol.15 (9), p.e1800239-n/a

2018

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Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Acta neuropathologica communications, 2019-03, Vol.7 (1), p.30-30, Article 30

2019

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Pathology of criocopharyngeal muscles in oculopharyngeal muscular dystrophy (OPMD): A quantitative histological and histochemical study

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S140-S140

2016

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Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S92-S92

2016

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A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.828-836

2018

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Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

Clinical genetics, 2013-06, Vol.83 (6), p.565-570

2013

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Traffic of secondary metabolites to cell surface in the red alga Laurencia dendroidea depends on a two-step transport by the cytoskeleton

PloS one, 2013-05, Vol.8 (5), p.e63929

2013

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Acute paraparesis following intravenous steroid therapy in a case of dural spinal arteriovenous fistula

Journal of neurology, 2008-09, Vol.255 (9), p.1432-1433

2008

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Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders

Neurología (Barcelona, English ed. ), 2018-01, Vol.33 (1), p.35-46

2018

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Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S200-S201

2016

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Quantifiable diagnosis of neuromuscular diseases through network analysis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S243-S243

2015

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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S5-S6

2018

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Utrophin immunohistochemical expression in neuromuscular disorders

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S206-S206

2016

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A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S90-S90

2016

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Clinical outcome study for dysferlinopathy: One-year follow-up

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S92-S93

2016

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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

2007

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Protocolo diagnóstico de la mononeuritis y multineuritis

Medicine - programa de formación médica continuada acreditado, 2015-05, Vol.11 (78), p.4715-4719

2015

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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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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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Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Acidification-induced cellular changes in Symbiodinium isolated from Mussismilia braziliensis

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders

Informe de la Fundación Del Cerebro sobre el impacto social de la esclerosis lateral amiotrófica y las enfermedades neuromusculares

Diversity of Secondary Metabolites in the Liverwort Syzygiella rubricaulis (Nees) Stephani (Jamesoniellaceae, Marchantiophyta) from Neotropical High Mountains

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Pathology of criocopharyngeal muscles in oculopharyngeal muscular dystrophy (OPMD): A quantitative histological and histochemical study

Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

Traffic of secondary metabolites to cell surface in the red alga Laurencia dendroidea depends on a two-step transport by the cytoskeleton

Acute paraparesis following intravenous steroid therapy in a case of dural spinal arteriovenous fistula

Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders

Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

Quantifiable diagnosis of neuromuscular diseases through network analysis

Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Utrophin immunohistochemical expression in neuromuscular disorders

A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss

Clinical outcome study for dysferlinopathy: One-year follow-up

A new phenotype of dysferlinopathy with congenital onset

Symptomatic dysferlin gene mutation carriers: characterization of two cases

Protocolo diagnóstico de la mononeuritis y multineuritis

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

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

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