Search Results - "Raspall-Chaure, M" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

by Macaya, A, Drechsel, O, Álvarez-Molinero, M, Marcé-Grau, A, Ferrer-Aparicio, S, Gómez-Andrés, D, Flotats-Bastardas, M, Pons, M.R, Raspall-Chaure, M, Bezdan, D, Bossio, M, Munell, F, Ossowski, S
Published in European journal of paediatric neurology (01.06.2017)

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PP01.10 – 3014: GABRA1 neonatal encephalopathy: a clinical, genetic and pathological study

PP01.10 – 3014: GABRA1 neonatal encephalopathy: a clinical, genetic and pathological study

by Felipe-Rucián, A, Marcé-Grau, A, Raspall-Chaure, M, Martínez-Sáez, E, Macaya, A
Published in European journal of paediatric neurology (01.05.2015)

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PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

by Macaya, A, Marcé-Grau, A, Cuenca-León, E, Felipe-Rucián, A, López-Pisón, F.J, Raspall-Chaure, M
Published in European journal of paediatric neurology (01.05.2015)

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PP07.10 – 2874: Frequency of ambulance use and hospital admission following prolonged acute convulsive seizures in a European survey of children with epilepsy

PP07.10 – 2874: Frequency of ambulance use and hospital admission following prolonged acute convulsive seizures in a European survey of children with epilepsy

by Kirkham, F, Vigevano, F, Wilken, B, Raspall-Chaure, M, Grebla, R, Roskell, N, Kiechle, T, Lagae, L
Published in European journal of paediatric neurology (01.05.2015)

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P46 – 2873: Frequency of rescue medication administration and its effect on seizure duration in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

P46 – 2873: Frequency of rescue medication administration and its effect on seizure duration in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

by Vigevano, F, Kirkham, F, Wilken, B, Raspall-Chaure, M, Grebla, R, Roskell, N, Kiechle, T, Lagae, L
Published in European journal of paediatric neurology (01.05.2015)

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PP07.13 – 2777: Disease characteristics and learning disabilities in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

PP07.13 – 2777: Disease characteristics and learning disabilities in a European survey of children with epilepsy who experience prolonged acute convulsive seizures

by Wilken, B, Kirkham, F, Lagae, L, Raspall-Chaure, M, Grebla, R, Roskell, N, Kiechle, T, Vigevano, F
Published in European journal of paediatric neurology (01.05.2015)

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Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain

Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain

by Raspall-Chaure, M, Martínez-Bermejo, A, Pantoja-Martínez, J, Paredes-Carmona, F, Sánchez-Carpintero, R, Wait, S
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2014)

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Use of benzodiazepines in prolonged seizures and status epilepticus in the community

Use of benzodiazepines in prolonged seizures and status epilepticus in the community

by Sánchez-Carpintero, R, Camino, R, Smeyers, P, Raspall-Chaure, M, Martínez-Bermejo, A, Ruiz-Falcó, M L, Verdú, A, Sanmarti, F X, Blanco, O, Santos Borbujo, J, Picó, G, Cebollero, M A
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2014)

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Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España

Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España

by Raspall-Chaure, M, Martínez-Bermejo, A, Pantoja-Martínez, J, Paredes-Carmona, F, Sánchez-Carpintero, R, Wait, S
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2014)

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Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad

Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad

by Sánchez-Carpintero, R, Camino, R, Smeyers, P, Raspall-Chaure, M, Martínez-Bermejo, A, Ruiz-Falcó, M.L, Verdú, A, Sanmarti, F.X, Blanco, O, Santos Borbujo, J, Picó, G, Cebollero, M.A
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2014)

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Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent

Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent

by Fernandez-Cadenas, I, Nogales-Gadea, G, Llige, D, Rubio, J C, Montaner, J, Arenas, J, Raspall-Chaure, M, Roig-Quilis, M, Andreu, A L
Published in Revista de neurologiá (01.09.2007)

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G97 Seizure duration with and without rescue medication in a European survey of children who experience prolonged acute convulsive seizures

G97 Seizure duration with and without rescue medication in a European survey of children who experience prolonged acute convulsive seizures

by Kirkham, F, Vigevano, F, Wilken, B, Raspall-Chaure, M, Grebla, R, Roskell, N, Werner-Kiechle, T, Lagae, L
Published in Archives of disease in childhood (01.04.2016)

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Gelastic seizures and low-grade hypothalamic astrocytoma

Gelastic seizures and low-grade hypothalamic astrocytoma

by Raspall-Chaure, M, Vizmanos-Lamotte, D, Auger-Acosta, C, Tallada-Serra, M
Published in Revista de neurologiá (01.09.2006)

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Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

by Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.
Published in Human mutation (01.04.2014)

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Classification of idiopathic generalised epilepsies in patients over 16 years of age

Classification of idiopathic generalised epilepsies in patients over 16 years of age

by Sala-Padro, J, Toledo, M, Santamarina, E, Gonzalez-Cuevas, M, Raspall-Chaure, M, Sueiras-Gil, M, Quintana, M, Salas-Puig, J
Published in Revista de neurologiá (16.01.2017)

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Management of prolonged convulsive seizures in the community: Results of the PERFECT™ study in Spain

Management of prolonged convulsive seizures in the community: Results of the PERFECT™ study in Spain

by Raspall-Chaure, M., Martínez-Bermejo, A., Pantoja-Martínez, J., Paredes-Carmona, F., Sánchez-Carpintero, R., Wait, S.
Published in Anales de Pediatría (01.08.2014)

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Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis

Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis

by Rosés-Noguer, F, Raspall-Chaure, M, Macaya-Ruiz, A, del Toro-Riera, M, Vázquez-Méndez, E, Roig-Quilis, M
Published in Revista de neurologiá (16.04.2006)

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Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin

Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin

by del Toro-Riera, M, Macaya-Ruiz, A, Raspall-Chaure, M, Tallada-Serra, M, Pasqual-López, I, Roig-Quilis, M
Published in Revista de neurologiá (01.03.2006)

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Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

by Raspall-Chaure, M, Del Toro-Riera, M, Gratacós, M, Cuenca-León, E, Ferrer, I, Indo, Y, Roig-Quilis, M, Macaya-Ruiz, A
Published in Revista de neurologiá (16.08.2005)

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A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain

A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain

by Raspall-Chaure, M, Solano, A, Vázquez, E, Macaya-Ruiz, A, del Toro-Riera, M, Cabezuelo-Briones, A, Montoya, J, Andreu, A, Roig-Quilis, M
Published in Revista de neurologiá (16.12.2004)

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