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List of works by Jose Luis Peña Segura

A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D

scientific article published on 17 November 2019

A novel neurocutaneous syndrome: Legius syndrome. A case report

scientific article published in September 2014

A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit

scientific article published on 9 June 2016

A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital

scientific article published in December 2017

A study of the demand for neuropediatric services in a general hospital. II. Reasons for consultation

scientific article published on 01 November 1997

A study of the demand for neuropediatrics care at a regional hospital. I. Presentation of the study and general results

scientific article published on October 1, 1997

Benign intracranial hypertension: experience over 18 years

scientific article published on 24 September 2009

Bone health impairment in patients with cerebral palsy

scientific article published on 18 June 2020

Changes in the demand for paediatric neurology care in a spanish tertiary care hospital over a 20-year period

scientific article published on 30 January 2013

Demand for neuropediatric care in a regional general hospital. V. Complementary tests

scientific article published on 01 February 1998

Demand for neuropediatric services at a general referral hospital. IV. Psychomotor development and physical examination

scientific article published on 01 December 1997

Demand for neuropediatric services in a general referral hospital. III. Diagnosis

scientific article published on 01 December 1997

Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre.

scientific article published on 15 April 2016

Effect of prematurity and low birth weight in visual abilities and school performance

scientific article published on 13 October 2016

Eosinophilic myositis in a 9 year old boy

scientific article published on November 16, 2001

Gorlin syndrome in the paediatric age

scientific article published in April 2014

Idiopathic intracranial hypertension: Experience over 25 years and a management protocol

scientific article published on 13 October 2016

Myths and evidence on the use of botulinum toxin: spasticity in adults and in children with cerebral palsy

scientific article

Neurofibromatosis in children. Our experience

scientific article published on November 1, 2003

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol.

scientific article

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

scientific article published on 11 December 2013

Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases

scientific article

Prader-Willi and Angelman syndromes: 21 years of experience

scientific article published on 8 March 2012

Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out? ⬇️

scientific article published on March 4, 2011

Prognosis of non-symptomatic epilepsy in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years

scientific article

Prognosis of symptomatic epilepsies in relation to their age of onset, monitored at a neuropediatric section of regional reference over a period of three years

scientific article published in March 2016

Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17

scientific article

Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family

scientific article published on 6 January 2016

[A descriptive study of non-symptomatic epilepsy according to age at onset at a Neuropediatric Section of regional reference]

scientific article published in November 2016

[Cockayne syndrome: a new mutation in the ERCC8 gene]

scientific article published on 01 August 2012

[Evaluation of the protocol for diagnostic lumbar puncture in the emergency department]

scientific article published on 21 July 2009

[Familial MECP2 duplication syndrome]

scientific article published on 01 April 2020

[Leptomeningeal angiomatosis without facial nevus and decreased conscious level]

scientific article published on 11 March 2011

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia]

[Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea]

scientific article published on 01 October 2019

[Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight]

scientific article published on 19 October 2019

[Prematurity with cerebral palsy and ceroid lipofuscinosis]

scientific article published on 01 November 2010

[Self-evaluation of compliance with the protocol for managing craniocerebral injury in children under one year of age in the emergency department]

scientific article published on 01 August 2009

[Strategies for improvement using the continuous evaluation of a protocol: afebrile headache in paediatrics]

scientific article published on 02 September 2009

[Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis associated to papilloedema]

scientific article published on 01 June 2011

[The transfer of neuropaediatrics to adult medicine]

scientific article published on 11 May 2011

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