Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report von Fernández-Marmiesse, A, Pérez-Poyato, M S, Fontalba, A, Marco de Lucas, E, Martínez, M T, Cabero Pérez, M J, Couce, M L

Volltext

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis von Couce, M.L, Ramos, F, Bueno, M.A, Díaz, J, Meavilla, S, Bóveda, M.D, Fernández-Marmiesse, A, García-Cazorla, A

Volltext

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain von Couce, M.L., Bóveda, M.D., Fernández-Marmiesse, A., Mirás, A., Pérez, B., Desviat, L.R., Fraga, J.M.

Volltext

Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene von Alcahut-Rodríguez, C, Díaz-Maroto, I, Fernández-Marmiesse, A, García-García, J

Volltext

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations von Jou, C, Ortez, C, Jimenez-Mallebrera, C, Romero, N, Bouchier, G, Fernández-Marmiesse, A, Couce, M, Carrascosa-Romero, M, Blancas, A, Ribalta, T, Colomer, J, Nascimento, A

Volltext

Paucisymptomatic hyperCKaemia due to a mutation in the ANO5 gene von Alcahut-Rodríguez, C., Díaz-Maroto, I., Fernandez-Marmiesse, A., García-García, J.

Volltext

HiperCKemia paucisintomática secundaria a mutación en el gen ANO5 von Alcahut-Rodríguez, C., Díaz-Maroto, I., Fernández-Marmiesse, A., García-García, J.

Volltext

Comparison of predose vs 2-h postdose blood metabolites/cyclosporine ratios in kidney and liver transplant patients von Fernández–Marmiesse, Ana, Hermida, Jesús, Tutor, J.Carlos

Volltext

P.19 - Novel mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs von Afonso Ribeiro, J., Almendra, L., Rebelo, O., Laranjeiro, F., Marmiesse, A., Almeida, M., Peres, M., Geraldo, A., Matos, A., Negrao, L.

Volltext

Novel mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs von Afonso Ribeiro, J., Almendra, L., Rebelo, O., Laranjeiro, F., Marmiesse, A., Almeida, M., Peres, M., Geraldo, A., Matos, A., Negrao, L.

Volltext

G.P.338 - A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations von Jou, C., Ortez, C., Jimenez-Mallebrera, C., Romero, N., Bouchier, G., Fernández-Marmiesse, A., Couce, M., Carrascosa-Romero, M., Blancas, A., Ribalta, T., Colomer, J., Nascimento, A.

Volltext

Mutación puntual de novo en el gen KCND3 en un paciente con ataxia crónica de inicio precoz von Carrasco Marina, Mª Llanos, Quijada Fraile, Pilar, Fernández Marmiesse, Ana, Gutiérrez Cruz, Nuria, Martín del Valle, Fernando

Volltext

De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia von Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

Volltext

De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia von Carrasco-Marina, M L, Quijada-Fraile, P, Fernandez-Marmiesse, A, Gutierrez-Cruz, N, Martin-Del Valle, F

Volltext

Free-access copy-number variant detection tools for targeted next-generation sequencing data von Roca, Iria, González-Castro, Lorena, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana

Volltext

A Resource Allocation Trade-Off between Virulence and Proliferation Drives Metabolic Versatility in the Plant Pathogen Ralstonia solanacearum von Peyraud, Rémi, Cottret, Ludovic, Marmiesse, Lucas, Gouzy, Jérôme, Genin, Stéphane

Volltext

Control of primary metabolism by a virulence regulatory network promotes robustness in a plant pathogen von Peyraud, Rémi, Cottret, Ludovic, Marmiesse, Lucas, Genin, Stéphane

Volltext

New CTSA mutation in early infantile galactosialidosis von Aldámiz‐Echevarría, Luis, Couce, M. Luz, Villate, Olatz, Fernández‐Marmiesse, Ana, Piñán, M. Ángeles

Volltext

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder von Fernández‐Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Mª Luz, Gutierrez‐Solana, Luis, Yuan, Hongjie

Volltext

FlexFlux: combining metabolic flux and regulatory network analyses von Marmiesse, Lucas, Peyraud, Rémi, Cottret, Ludovic

Volltext