Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal

Autor: Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP

Publikováno v: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0dcc87d70262daaea72289799640167a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14881

Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

Autor: ORMAZABAL, A., GARCÍA CAZORLA, A., PÉREZ DUEÑAS, B., PINEDA, M., RUIZ, A., LÓPEZ LASO, E., GARCÍA SILVA, M., CARILHO, I., BARBOT, C., CORMAND, B., RIBASES, M., MOLLER, L., FERNÁNDEZ ALVAREZ, E., CAMPISTOL, J., ARTUCH, R.

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazaba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7e0de0f4594bb17d72d7c13be9019130

A Systematic Review of Botulinum Toxin Injection in Pediatric Dystonia.

Autor: Rasera, Andrea¹ (AUTHOR) rasera@hotmail.it, Squintani, Giovanna Maddalena² (AUTHOR) giovannamaddalena.squintani@aovr.veneto.it, Cerruto, Maria Angela³ (AUTHOR) mariaangela.cerruto@univr.it

Publikováno v: Toxins. Jul2024, Vol. 16 Issue 7, p289. 11p.

Inhibition of Catechol-O-Methyltransferase by N-(3,4-Dihydroxyphenyl) Maleimide

Autor: O. Nieto, F. J. Piedrafita, Fernández-Alvarez E, C. Elorriaga

Publikováno v: Journal of Enzyme Inhibition. 4:43-50

Catechol-O-methyltransferase (COMT) is inhibited rapidly and irreversibly by N-(3,4-dihydroxyphenyl) maleimide. S-adenosylmethionine (AdoMet) and magnesium ions protect the enzyme from inactivation by this compound, but no protection is observed by t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e8d152d7a725ac5c8756a4643d6f09
https://doi.org/10.3109/14756369009030387

Characterisation of tremor in phenylketonuric patients

Autor: Pérez-Dueñas B, Valls-Sole, J, Fernández-Alvarez E, Conill, J, Vilaseca MA, Artuch-Iriberri R, Campistol-Plana J

Publikováno v: JOURNAL OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::703bd5ca52b253e0e5789f518eabdc8e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21600