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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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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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Sturge-Weber syndrome: study of 55 patients

Canadian journal of neurological sciences, 2008-07, Vol.35 (3), p.301-307

2008

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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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Expanding the phenotypic spectrum of TRAPPC11- related muscular dystrophy: 25 Roma individuals carrying a founder variant

Journal of medical genetics, 2023-10, Vol.60 (10), p.965-973

2023

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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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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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The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

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

2021

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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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Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

Stem cell research, 2018-12, Vol.33, p.166-170

2018

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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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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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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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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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Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum

Child's nervous system, 2012-12, Vol.28 (12), p.2177-2180

2012

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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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Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants With Spinal Muscular Atrophy (SMA); Study Design and Part A Data for the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen (2343)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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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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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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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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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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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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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

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

Sturge-Weber syndrome: study of 55 patients

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

Expanding the phenotypic spectrum of TRAPPC11- related muscular dystrophy: 25 Roma individuals carrying a founder variant

Characterizing Normal and Pathological Gait through Permutation Entropy

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Posibilidades de tratamiento en la atrofia espinal infantil

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

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

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

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

Bilateral spinal neurofibromas in patients with neurofibromatosis 1

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

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

Scientific rationale for a higher dose of nusinersen

Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum

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

Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants With Spinal Muscular Atrophy (SMA); Study Design and Part A Data for the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen (2343)

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

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

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

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

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

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