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Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

American journal of human genetics, 2012-07, Vol.91 (1), p.193-201

2012

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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Human molecular genetics, 2019-05, Vol.28 (10), p.1629-1644

2019

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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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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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Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Journal of genetics, 2019-09, Vol.98 (3), p.1-10, Article 71

2019

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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Journal of neurology, neurosurgery and psychiatry, 2013-10, Vol.84 (10), p.1119-1125

2013

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Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

PloS one, 2017-06, Vol.12 (6), p.e0178376-e0178376

2017

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Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

Journal of patient-reported outcomes, 2024-07, Vol.8 (1), p.78-11, Article 78

2024

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Outcome of arterial ischemic stroke in children with heart disease

European journal of paediatric neurology, 2017-09, Vol.21 (5), p.730-737

2017

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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

BMC neurology, 2010-10, Vol.10 (1), p.89-89, Article 89

2010

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Equimolar nitrous oxide/oxygen versus placebo for procedural pain in children: a randomized trial

Pediatrics (Evanston), 2011-06, Vol.127 (6), p.e1464-e1470

2011

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Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation

Journal of child neurology, 2015-10, Vol.30 (11), p.1544-1548

2015

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Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular disorders : NMD, 2012-03, Vol.22 (3), p.231-243

2012

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Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Muscle & nerve, 2012-12, Vol.46 (6), p.957-961

2012

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Treatment with antisense oligonucleotides in Duchenne's disease

Revista de neurologiá, 2012-05, Vol.54 Suppl 3, p.S31-S39

Pascual-Pascual, Samuel I

2012

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Posterior fossa tumors in children with neurofibromatosis type 1 (NF1)

Child's nervous system, 2010-11, Vol.26 (11), p.1599-1603

2010

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Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

Journal of neurology, 2012-02, Vol.259 (2), p.246-250

2012

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Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial

Cerebellum (London, England), 2013-10, Vol.12 (5), p.713-720

2013

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Voluminous plexiform neurofibromas of the neck region in neurofibromatosis 1

Revista de neurologiá, 2014-07, Vol.59 (1), p.13-19

2014

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Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

Annals of the Indian Academy of Neurology, 2017-04, Vol.20 (2), p.164-165

2017

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3162-3171

2023

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Major and Minor Arterial Malformations in Patients With Cutaneous Vascular Abnormalities

Journal of child neurology, 2010-05, Vol.25 (5), p.587-598

2010

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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

European journal of medical genetics, 2021-04, Vol.64 (4), p.104170-104170, Article 104170

2021

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A SCN4A mutation causing paramyotonia congenita

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1123-1125

2017

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Cobb Syndrome: Case Report

Journal of child neurology, 2002-11, Vol.17 (11), p.847-849

2002

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Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

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

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

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

Outcome of arterial ischemic stroke in children with heart disease

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Equimolar nitrous oxide/oxygen versus placebo for procedural pain in children: a randomized trial

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Treatment with antisense oligonucleotides in Duchenne's disease

Posterior fossa tumors in children with neurofibromatosis type 1 (NF1)

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial

Voluminous plexiform neurofibromas of the neck region in neurofibromatosis 1

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Major and Minor Arterial Malformations in Patients With Cutaneous Vascular Abnormalities

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

A SCN4A mutation causing paramyotonia congenita

Cobb Syndrome: Case Report

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