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Therapeutic Approaches in Lysosomal Storage Diseases

Biomolecules (Basel, Switzerland), 2021-11, Vol.11 (12), p.1775

2021

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A murine model of BSCL2-associated Celia's encephalopathy

Neurobiology of disease, 2023-10, Vol.187, p.106300-106300, Article 106300

2023

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Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Human molecular genetics, 2012-04, Vol.21 (7), p.1521-1533

2012

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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.1-330, Article 330

2020

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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

Journal of medical genetics, 2020-09, Vol.57 (9), p.643-646

2020

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Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression

International journal of molecular sciences, 2024-06, Vol.25 (11), p.6024

2024

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Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

Journal of clinical medicine, 2023-08, Vol.12 (17), p.5689

2023

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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

Autophagy, 2012-04, Vol.8 (4), p.701-703

2012

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Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A

Molecular therapy. Methods & clinical development, 2021-03, Vol.20, p.1-17

2021

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Pathology and diagnosis of muscular dystrophies

Advances in experimental medicine and biology, 2009-01, Vol.652, p.1

2009

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Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Journal of neurology, 2022-08, Vol.269 (8), p.4253-4263

2022

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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Cell reports (Cambridge), 2020-05, Vol.31 (5), p.107616-107616, Article 107616

2020

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Correlating Histopathological Microscopic Images of Creutzfeldt–Jakob Disease with Clinical Typology Using Graph Theory and Artificial Intelligence

Machine learning and knowledge extraction, 2024-09, Vol.6 (3), p.2018-2032

2024

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.210-210, Article 210

2023

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Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Neuromuscular disorders : NMD, 2017-07, Vol.27 (7), p.667-672

2017

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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

Neurology, 2015-06, Vol.84 (22), p.2286-2288

2015

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SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

Neurogenetics, 2017, Vol.18 (1), p.63-67

2017

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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Neuromuscular disorders : NMD, 2011-04, Vol.21 (4), p.254-262

2011

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Learning curve of thyroid fine-needle aspiration biopsy

Endocrinologia, diabetes y nutricion, 2017-12, Vol.64 (10), p.539

2017

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

Clinical neuropathology, 2016-03, Vol.35 (2), p.58-65

2016

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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Human genetics, 2010-01, Vol.127 (1), p.114-115

2010

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Myopathy due to deficiency of desaminase myoadenilate induced by atorvastatine

Medicina clinica, 2013-06, Vol.140 (12), p.565

2013

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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Human genetics, 2009-04, Vol.125 (3), p.339-339

2009

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Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Human molecular genetics, 2012-10, Vol.21 (19), p.4366-4366

2012

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Therapeutic Approaches in Lysosomal Storage Diseases

A murine model of BSCL2-associated Celia's encephalopathy

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression

Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A

Pathology and diagnosis of muscular dystrophies

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Correlating Histopathological Microscopic Images of Creutzfeldt–Jakob Disease with Clinical Typology Using Graph Theory and Artificial Intelligence

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Learning curve of thyroid fine-needle aspiration biopsy

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Myopathy due to deficiency of desaminase myoadenilate induced by atorvastatine

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

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