List of works - Daniel Natera-de Benito

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.

scientific article

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient

scientific article published on 01 December 2018

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

scientific article published on 14 March 2019

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

scientific article published on 24 July 2019

Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

scientific article

Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature.

scientific article published on 19 February 2016

Description of Restrictively Defined Acute Flaccid Myelitis

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

scientific article published on 08 April 2020

Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices.

scientific article published on 24 November 2016

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

scientific article published on 11 January 2016

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

scientific article

Molecular characterization of congenital myasthenic syndromes in Spain.

scientific article

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

scientific article published on 15 August 2016

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

scientific article published on 18 April 2019

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

scientific article published on 22 February 2018

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

scientific article published on 20 April 2021

[Advances in the treatment of Duchenne muscular dystrophy]

scientific article published on 01 January 2019

[De la Chapelle syndrome]

scientific article published on 07 September 2012

[Diagnosis and treatment of congenital myopaties]

scientific article published on 01 January 2019

[Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents]

scientific article published on 01 December 2019

List of works by Daniel Natera-de Benito

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature.

Description of Restrictively Defined Acute Flaccid Myelitis

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

Molecular characterization of congenital myasthenic syndromes in Spain.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

[Advances in the treatment of Duchenne muscular dystrophy]

[De la Chapelle syndrome]

[Diagnosis and treatment of congenital myopaties]

[Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents]