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List of works by Samuel Ignacio Pascual

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

scientific article published on 2 January 2016

Association of cutaneous red-to-purple hemangiomas with leptomeningeal hemangiomas. a clinical study of two patients.

scientific article published on February 2010

Ataxia-telangiectasia (A-T). Contribution with eighteen personal cases ⬇️

scientific article published on 01 January 1981

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

scientific article published on 01 December 2012

Bilateral spinal neurofibromas in patients with neurofibromatosis 1.

scientific article published on 14 October 2011

Childhood choroid plexus neoplasms. A study of 14 cases less than 2 years old.

scientific article published in March 1983

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1 ⬇️

scientific article published on February 27, 2013

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

scientific article published on 18 February 2015

Congenital and evolving vascular disorders associated with cutaneous hemangiomas: case report

scientific article published on 01 June 2009

Congenital cytomegalovirus infection and cortical/subcortical malformations

scientific article published on 24 February 2012

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

scientific article published in September 2016

Cutaneous, mediastinal and hepatic hemangiomas in a girl followed during 12 years.

scientific article published in February 2011

Dandy-Walker malformation: analysis of 38 cases

scientific article

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

scientific article published on 27 July 2017

Electroretinogram in Duchenne/Becker muscular dystrophy

scientific article published on 01 April 1998

Equimolar Nitrous Oxide/Oxygen Versus Placebo for Procedural Pain in Children: A Randomized Trial ⬇️

scientific article published on May 23, 2011

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

scientific article published on 6 May 2017

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

scientific article

Facial hemangioma and hemispheric migration disorder: presentation of 5 patients

scientific article published on 01 September 2007

Familial spinal neurofibromatosis

scientific article published on 01 April 2007

Focal cortical dysplasia. Clinical-radiological-pathological associations.

scientific article published on 2 January 2012

Generalized nerve sheath tumors in neurofibromatosis type 1 (NF1). A case report.

scientific article published in August 2000

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

scientific article published on 08 February 2002

Hypomelanosis of ITO. A study of 76 infantile cases.

scientific article

Ischaemic stroke in children with cardiopathy: An epidemiological study

scientific article published on 10 June 2016

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

article

Major and minor arterial malformations in patients with cutaneous vascular abnormalities.

scientific article published on 6 October 2009

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

scientific article published on 02 July 2011

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

scientific article published on April 2017

Moyamoya disease with a marked collateral supply through the artery of Bernasconi-Cassinari

scientific article published on 01 January 1996

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

scientific article

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

scientific article published on 24 October 2015

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

scientific article published on 22 September 2012

Oculocerebrocutaneous (Delleman) syndrome: report of two cases

scientific article published on 01 February 2005

Outcome of arterial ischemic stroke in children with heart disease.

scientific article published on June 2017

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

scientific article

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

scientific article published on 31 July 2010

Persistence of the stapedial artery associated with facial hemangioma: a case report

scientific article published on 01 August 2010

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

scientific article published on January 2009

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

scientific article

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

scientific article published on 13 May 2010

Progressive response to botulinum A toxin in cerebral palsy

scientific article published on 01 March 2000

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

scientific article published in September 2003

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias

scientific article published on 16 July 2012

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

scientific article published on 21 May 2012

Schizencephaly: a study of 16 patients.

scientific article published on 3 September 2011

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

scientific article

Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report

scientific article published on 01 December 2008

Significance of tuber size for complications of tuberous sclerosis complex ⬇️

scientific article published on December 28, 2012

The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy.

scientific article

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

scientific article published on 01 July 2011

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

scientific article published on October 1, 2013

Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin.

scientific article published in July 2001

Validation of the Pascual Graphomotor Test in Cuban school children.

scientific article published on 18 November 2010

Visual evoked responses in children with tuberculosis treated with ethambutol

scientific article published on 01 January 2007

[Quality of life heart-disease children who have suffered from an arterial ischemic stroke].

scientific article

[Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients].

scientific article

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