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RAMON
CANCHO CANDELA
PROFESOR CONTRATADO DOCTOR
Publications (39) RAMON CANCHO CANDELA publications
2024
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Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Movement Disorders
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Pediatric Neurology, Vol. 155, pp. 8-17
2023
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Scientific Reports, Vol. 13, Núm. 1
2022
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Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders
Neurology(R) neuroimmunology & neuroinflammation, Vol. 9, Núm. 1
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The Paediatric Palliative Care Unit has been transformed into Home Care Unit during the COVID-19 pandemic. Is this transformation for the foreseeable future?
Anales de Pediatria, Vol. 96, Núm. 5, pp. 449-451
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Transformación de una Unidad de Cuidados Paliativos Pediátricos en Unidad de Atención Domiciliaria a raíz de la pandemia COVID-19. ¿Llegó para quedarse?
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 96, Núm. 5, pp. 449-451
2021
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COVID-19 in children with neuromuscular disorders
Journal of neurology, Vol. 268, Núm. 9, pp. 3081-3085
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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study
Neuropediatrics, Vol. 52, Núm. 3, pp. 192-200
2020
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Parental report of quality of life in children with epilepsy: A Spanish/French comparison
Epilepsy and Behavior, Vol. 105
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
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Bioelectrical impedance vector values in a Spanish healthy newborn population for nutritional assessment
American Journal of Human Biology, Vol. 31, Núm. 3
2018
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy
International Journal of Molecular Sciences, Vol. 19, Núm. 2
2017
2016
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Crisis parainfecciosas: estudio retrospectivo multicéntrico
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 85, Núm. 6, pp. 300-304
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Crisis parainfecciosas: estudio retrospectivo multicéntrico
Anales de Pediatria, Vol. 85, Núm. 6, pp. 300-304
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Visual Impairment Due to Lissencephaly
Neuro-Ophthalmology, Vol. 40, Núm. 5, pp. 229-233
2014
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Evolución de la natalidad en España. Análisis de la tendencia de los nacimientos entre 1941 y 2010
Anales de Pediatria, Vol. 82, Núm. 1, pp. e1-e6