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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

European journal of neurology, 2021-09, Vol.28 (9), p.3001-3011

2021

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Infantile-onset Pompe disease with neonatal debut: A case report and literature review

Medicine (Baltimore), 2017-12, Vol.96 (51), p.e9186-e9186

2017

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The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

Viruses, 2021-05, Vol.13 (5), p.867

2021

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Red Ear Syndrome in a Pediatric Patient

Pediatric emergency care, 2018-10, Vol.34 (10), p.e199-e200

2018

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Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

Annals of human genetics, 2022-05, Vol.86 (3), p.109-118

2022

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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

Brain (London, England : 1878), 2016-01, Vol.139 (Pt 1), p.62-72

2016

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Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease

Pediatric neurology, 2022-02, Vol.127, p.6-10

2022

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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

PloS one, 2017-11, Vol.12 (11), p.e0188978-e0188978

2017

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COVID-19 in children with neuromuscular disorders

Journal of neurology, 2021-09, Vol.268 (9), p.3081-3085

2021

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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.1-8

2024

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Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study

Farmacia Hospitalaria, 2016-10, Vol.40 (5), p.412-426

2016

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Effectiveness of botulinum toxin type a (boNT-A) in long-term treatment of hereditary spastic paraplegia in children: Review of a series of 63 cases

Toxicon (Oxford), 2016-12, Vol.123, p.S30-S31

2016

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Pompe disease: PAS-positive lymphocyte vacuoles as diagnostic screening test

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S113-S113

2020

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Idiopathic toe gait: Efficacy of botulinum toxin. Description of a series of 134 patients

Toxicon (Oxford), 2021-01, Vol.190, p.S62-S63

2021

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Extracellular Vesicles as Therapeutic Resources in the Clinical Environment

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2344

2023

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The Potential Use of Mitochondrial Extracellular Vesicles as Biomarkers or Therapeutical Tools

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7005

2023

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Therapeutic Potential of Extracellular Vesicles in Aging and Age-Related Diseases

International journal of molecular sciences, 2022-11, Vol.23 (23), p.14632

2022

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Extracellular Vesicles: The Future of Diagnosis in Solid Organ Transplantation?

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5102

2023

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Exploitation of olive tree pruning biomass through hydrothermal pretreatments

Industrial crops and products, 2022-02, Vol.176, p.114425, Article 114425

2022

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Treatment of self-biting behaviour in Lesch-Nyhan syndrome: Use of botulinum toxin

Toxicon (Oxford), 2018-12, Vol.156, p.S98

2018

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Residues from grapevine and wine production as feedstock for a biorefinery

Food and bioproducts processing, 2022-07, Vol.134, p.56-79

2022

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Small extracellular vesicles from senescent stem cells trigger adaptive mechanisms in young stem cells by increasing antioxidant enzyme expression

Redox biology, 2023-06, Vol.62, p.102668-102668, Article 102668

2023

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The Double-Edged Role of Extracellular Vesicles in the Hallmarks of Aging

Biomolecules (Basel, Switzerland), 2023-01, Vol.13 (1), p.165

2023

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Comparison between MODFLOW Groundwater Modeling with Traditional and Distributed Recharge

Hydrology, 2024-01, Vol.11 (1), p.9

2024

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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

Infantile-onset Pompe disease with neonatal debut: A case report and literature review

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

Red Ear Syndrome in a Pediatric Patient

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

COVID-19 in children with neuromuscular disorders

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study

Effectiveness of botulinum toxin type a (boNT-A) in long-term treatment of hereditary spastic paraplegia in children: Review of a series of 63 cases

Pompe disease: PAS-positive lymphocyte vacuoles as diagnostic screening test

Idiopathic toe gait: Efficacy of botulinum toxin. Description of a series of 134 patients

Extracellular Vesicles as Therapeutic Resources in the Clinical Environment

The Potential Use of Mitochondrial Extracellular Vesicles as Biomarkers or Therapeutical Tools

Therapeutic Potential of Extracellular Vesicles in Aging and Age-Related Diseases

Extracellular Vesicles: The Future of Diagnosis in Solid Organ Transplantation?

Exploitation of olive tree pruning biomass through hydrothermal pretreatments

Treatment of self-biting behaviour in Lesch-Nyhan syndrome: Use of botulinum toxin

Residues from grapevine and wine production as feedstock for a biorefinery

Small extracellular vesicles from senescent stem cells trigger adaptive mechanisms in young stem cells by increasing antioxidant enzyme expression

The Double-Edged Role of Extracellular Vesicles in the Hallmarks of Aging

Comparison between MODFLOW Groundwater Modeling with Traditional and Distributed Recharge

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