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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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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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The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim–Chester disease

European journal of radiology, 2015-08, Vol.84 (8), p.1586-1592

2015

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Varón diabético de 35 años con tumefacción espontánea de muslo izquierdo

Revista clínica espanõla, 2011-12, Vol.211 (11), p.587-590

2011

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Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy

Neurología (Barcelona, English ed. ), 2024-02

2024

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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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Sporadic late-onset nemaline myopathy in an aged patient

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S150-S150

2016

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DEVELOPMENTAL STUDY OF THE DISTRIBUTION OF HYPOXIA-INDUCED FACTOR-1 ALPHA AND MICRO TUBULE-ASSOCIATED PROTEIN 2 IN CHILDREN'S BRAINSTEM: COMPARISON BETWEEN CONTROLS AND CASES WITH SIGNS OF PERINATAL HYPOXIA

Neuroscience, 2014-06, Vol.271, p.77-98

2014

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Developmental study of the distribution of hypoxia-induced factor-1 alpha and microtubule-associated protein 2 in children’s brainstem: Comparison between controls and cases with signs of perinatal hypoxia

Neuroscience, 2014-06, Vol.271, p.77-98

2014

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Insomnio fatal esporádico: fenotipo PSP-like rápidamente progresivo

Neurología (Barcelona, Spain), 2024-11, Vol.39 (9), p.820-823

2024

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Enfermedad de Erdheim-Chester

Medicina clínica, 2014-11, Vol.143 (10), p.e19-e19

2014

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Desmoplastic astrocytoma: new insights into its clinical profile, diagnosis, and treatment

Child's nervous system, 2016-09, Vol.32 (9), p.1577-1585

2016

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Dystroglycanopathy: Description of the first patient cohort in Spain

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S163-S163

2016

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A novel MYH7 mutation causing the Laing distal myopathy in Andalucia

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S173-S173

2016

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Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S179-S179

2016

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Distribution of peptidergic populations in the human dentate gyrus (Somatostatin [SOM-28, SOM-12] and Neuropeptide Y [NPY]) during postnatal development

Cell and tissue research, 2014-10, Vol.358 (1), p.25-41

2014

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Developmental study of vitamin C distribution in children's brainstems by immunohistochemistry

Annals of anatomy, 2015-09, Vol.201, p.65-78

2015

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Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea

Acta otorrinolaringológica española, 2012-11, Vol.63 (6), p.465-469

2012

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Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome

Neurología (Barcelona, Spain), 2006-12, Vol.21 (10), p.729-732

2006

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Diabetic male age 35 with spontaneous swelling of the left thigh

Revista clinica espanola, 2011, Vol.211 (11), p.587-590

2011

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O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S67-S67

2023

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P.5 - 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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P.213 - Sporadic late-onset nemaline myopathy in an aged patient

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S150-S150

2016

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P.38 - The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S109-S110

2017

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

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim–Chester disease

Varón diabético de 35 años con tumefacción espontánea de muslo izquierdo

Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy

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

Sporadic late-onset nemaline myopathy in an aged patient

DEVELOPMENTAL STUDY OF THE DISTRIBUTION OF HYPOXIA-INDUCED FACTOR-1 ALPHA AND MICRO TUBULE-ASSOCIATED PROTEIN 2 IN CHILDREN'S BRAINSTEM: COMPARISON BETWEEN CONTROLS AND CASES WITH SIGNS OF PERINATAL HYPOXIA

Developmental study of the distribution of hypoxia-induced factor-1 alpha and microtubule-associated protein 2 in children’s brainstem: Comparison between controls and cases with signs of perinatal hypoxia

Insomnio fatal esporádico: fenotipo PSP-like rápidamente progresivo

Enfermedad de Erdheim-Chester

Desmoplastic astrocytoma: new insights into its clinical profile, diagnosis, and treatment

Dystroglycanopathy: Description of the first patient cohort in Spain

A novel MYH7 mutation causing the Laing distal myopathy in Andalucia

Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies

Distribution of peptidergic populations in the human dentate gyrus (Somatostatin [SOM-28, SOM-12] and Neuropeptide Y [NPY]) during postnatal development

Developmental study of vitamin C distribution in children's brainstems by immunohistochemistry

Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea

Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome

Diabetic male age 35 with spontaneous swelling of the left thigh

O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples

P.5 - Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis

P.213 - Sporadic late-onset nemaline myopathy in an aged patient

P.38 - The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern

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