Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Emilio Fernández-Alvarez"'
Paediatric Movement Disorders is a relatively new and exciting field of Child Neurology. The present book represents the outcome of an international symposium, organized as a forum for exchange between both adult and child neurologists. The contribut
Autor:
Michèl A.A.P. Willemsen, Joost Nicolai, Roderick P.P.W.M. Maas, Emilio Fernández-Alvarez, Kenneth Silver, Salvatore Mangano, Erik-Jan Kamsteeg, María Vázquez López
Publikováno v:
European Journal of Paediatric Neurology, 22, 6, pp. 1110-1117
European Journal of Paediatric Neurology, 22(6), 1110-1117. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 1110-1117
European Journal of Paediatric Neurology, 22(6), 1110-1117. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 1110-1117
Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We stu
Autor:
Emilio Fernández-Alvarez
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7767f48e103a6cd022a8f4a44cb6af4b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13513
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13513
Autor:
Emilio Fernández-Alvarez
Publikováno v:
Journal of Pediatric Neurology. 13:231-236
Monosymptomatic, benign, sudden, and brief episodes of paroxysmal nonepileptic movements are quite common in infants. Their morphology is polymorphic. According to their predominant semiology, different terms are used. The most frequent are “benign
Autor:
Emilio Fernández-Alvarez, Mercedes Serrano, Jaume Campistol, Belén Pérez-Dueñas, Belén Caurín
Publikováno v:
European Journal of Paediatric Neurology. 18:157-162
To assess the clinical features and severity of tics and environmental factors influencing tic expression in a cohort of children with tic disorders.We performed a cross-sectional study in a cohort of children and adolescents (N = 92) with tic disord
Autor:
Mercedes Serrano, Mónica Rebollo, Rafael Artuch, Jordi Muchart, Jose A. Obeso, Christel Depienne, Belén Pérez-Dueñas, Agnès Rastetter, Emilio Fernández-Alvarez, Loreto Martorell
Publikováno v:
Movement Disorders. 27:1295-1298
Background: Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and h
Autor:
Emilio Fernández-Alvarez, Jaume Campistol, Rosario Duque, Antonia Ribes, Rafael Artuch, Patricia Alcaide, Angela Arias, Angela Sempere, Carmen Fons, Antoni Capdevila, Begoña Merinero, Pilar Rodríguez-Pombo, Jesús Eirís, P Póo
Publikováno v:
Medicina Clínica. 133:745-749
Resumen Fundamento y objetivo Los sindromes de deficiencia cerebral de creatina (Cr) constituyen un grupo de enfermedades neurometabolicas caracterizadas por deficiencia o ausencia de Cr en el cerebro. Cursan con retraso del desarrollo/mental y trast
Autor:
Marta Galván, Emilio Fernández-Alvarez, Clare Short, Anirban Majumdar, Jaume Colomer, P Póo, Lokesh Lingappa, Jesús Lopez-Casas, Philip Jardine
Publikováno v:
European Journal of Paediatric Neurology. 13:466-472
We describe the clinical features, investigations and outcome of 4 adolescents aged 13, 16, 17 and 19 years, with fixed dystonia. The diagnosis was made within 6 months of the onset of symptoms. One patient had an identifiable traumatic precipitant.
Autor:
Mercedes Pineda, Mercedes Serrano, Angels García-Cazorla, Nicole I. Wolf, Emilio Fernández-Alvarez, Jaime Campistol, Georg F. Hoffmann, Salvatore DiMauro, Jaume Colomer, Belén Pérez-Dueñas
Publikováno v:
Journal of Inherited Metabolic Disease, 32(5), 618-629. Springer Netherlands
Garcia-Cazorla, A, Wolf, N I, Serrano, M, Perez-Duenas, B, Pineda, M, Campistol, J, Fernandez-Alvarez, E, Colomer, J, DiMauro, S & Hoffmann, G F 2009, ' Inborn errors of metabolism and motor disturbances in children ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 618-629 . https://doi.org/10.1007/s10545-009-1194-9
Garcia-Cazorla, A, Wolf, N I, Serrano, M, Perez-Duenas, B, Pineda, M, Campistol, J, Fernandez-Alvarez, E, Colomer, J, DiMauro, S & Hoffmann, G F 2009, ' Inborn errors of metabolism and motor disturbances in children ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 618-629 . https://doi.org/10.1007/s10545-009-1194-9
Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex
Autor:
Josep Valls-Solé, Jaon Conill, Emilio Fernández-Alvarez, Jaume Campistol, Belén Pérez-Dueñas, Rafael Artuch, Maria Antonio Vilaseca
Publikováno v:
Journal of Neurology. 252:1328-1334
Tremor of unknown origin is detected in 10-30% of early-treated and in more than 30% late-treated phenylketonuric patients. With the aim of characterizing tremor in phenylketonuria, we carried out a systematic study in 54 patients aged 6 to 37 years.