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Treatment of spinal muscular atrophy in European countries: A call to action

European journal of neurology, 2022-11, Vol.29 (11), p.3475-3477

2022

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Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

PloS one, 2018-03, Vol.13 (3), p.e0192345-e0192345

2018

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

PloS one, 2013-03, Vol.8 (3), p.e59916-e59916

2013

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Sturge-Weber syndrome: study of 55 patients

Canadian journal of neurological sciences, 2008-07, Vol.35 (3), p.301

2008

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Characterizing Normal and Pathological Gait through Permutation Entropy

Entropy (Basel, Switzerland), 2018-01, Vol.20 (1), p.77

2018

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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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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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DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

Journal of neuromuscular diseases, 2023-01, Vol.10 (5), p.813-823

2023

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Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Stem cell research, 2018-08, Vol.31, p.249-252

2018

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Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method

Early human development, 2021-10, Vol.161, p.105454-105454, Article 105454

2021

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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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Bilateral spinal neurofibromas in patients with neurofibromatosis 1

Brain & development (Tokyo. 1979), 2012-08, Vol.34 (7), p.563-569

2012

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Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme

Advances in experimental medicine and biology, 2009-01, Vol.652, p.39

Pascual, Samuel Ignacio Pascual

2009

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Scientific rationale for a higher dose of nusinersen

Annals of clinical and translational neurology, 2022-06, Vol.9 (6), p.819-829

2022

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Safety of botulinum toxin type A in children younger than 2 years

European journal of paediatric neurology, 2009-11, Vol.13 (6), p.511-515

2009

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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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Calidad de vida de niños cardiópatas que han sufrido un ictus arterial isquémico

Anales de pediatría (Barcelona, Spain : 2003), 2018-03, Vol.88 (3), p.167-169

2018

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Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries

Child's nervous system, 2011-04, Vol.27 (4), p.617-625

2011

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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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Treating spastic equinus foot from cerebral palsy with botulinum toxin type A: what factors influence the results?: an analysis of 189 consecutive cases

American journal of physical medicine & rehabilitation, 2011-07, Vol.90 (7), p.554

2011

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Neurofibromas plexiformes retroperitoneales. Presentación de un paciente con tumor de origen subcutáneo

Revista de neurologiá, 2010-05, Vol.50 (9), p.558

2010

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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Clinical genetics, 2017-11, Vol.92 (5), p.534-539

2017

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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Muscle & nerve, 2003-09, Vol.28 (3), p.293-301

2003

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Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin

Brain & development (Tokyo. 1979), 2001-07, Vol.23 (4), p.216-222

2001

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Treatment of spinal muscular atrophy in European countries: A call to action

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

Sturge-Weber syndrome: study of 55 patients

Characterizing Normal and Pathological Gait through Permutation Entropy

Posibilidades de tratamiento en la atrofia espinal infantil

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

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

Bilateral spinal neurofibromas in patients with neurofibromatosis 1

Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme

Scientific rationale for a higher dose of nusinersen

Safety of botulinum toxin type A in children younger than 2 years

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

Calidad de vida de niños cardiópatas que han sufrido un ictus arterial isquémico

Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries

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

Treating spastic equinus foot from cerebral palsy with botulinum toxin type A: what factors influence the results?: an analysis of 189 consecutive cases

Neurofibromas plexiformes retroperitoneales. Presentación de un paciente con tumor de origen subcutáneo

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin

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