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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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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

The Journal of molecular diagnostics : JMD, 2016-03, Vol.18 (2), p.225-234

2016

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Hyperpotassaemia masquerading acute myocardial infarction

Heart (British Cardiac Society), 2007-10, Vol.93 (10), p.1284-1284

2007

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Posibilidades de tratamiento en la atrofia espinal infantil

Revista de neurologiá, 2017-05, Vol.64 (S03), p.19

2017

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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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Disección de arterias vertebrales como causa de evento cerebrovascular agudo en niños

Revista de neurologiá, 2016, Vol.62 (8), p.382

2016

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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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Possible treatments for infantile spinal atrophy

Revista de neurologiá, 2017-05, Vol.64 (s03), p.S19-S24

2017

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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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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 : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria, 2016-09, Vol.40 (5), p.412

2016

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Dissection of vertebral arteries as the cause of acute cerebrovascular events in children

Revista de neurologiá, 2016-04, Vol.62 (8), p.382

2016

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Red Ear Syndrome in a Pediatric Patient

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

2018

Volltextzugriff (PDF)

When necessity meets opportunity: the role of service‐learning projects to complement training, community engagement and knowledge transfer in restoration

Restoration ecology, 2023-09, Vol.31 (7), p.n/a

2023

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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

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

Hyperpotassaemia masquerading acute myocardial infarction

Posibilidades de tratamiento en la atrofia espinal infantil

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

Disección de arterias vertebrales como causa de evento cerebrovascular agudo en niños

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

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Possible treatments for infantile spinal atrophy

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

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

Dissection of vertebral arteries as the cause of acute cerebrovascular events in children

Red Ear Syndrome in a Pediatric Patient

When necessity meets opportunity: the role of service‐learning projects to complement training, community engagement and knowledge transfer in restoration

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