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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. [electronic resource] by
- Finlayson, Sarah
- Palace, Jacqueline
- Belaya, Katsiaryna
- Walls, Timothy J
- Norwood, Fiona
- Burke, Georgina
- Holton, Janice L
- Pascual-Pascual, Samuel I
- Cossins, Judith
- Beeson, David
Producer: 20131108
In:
Journal of neurology, neurosurgery, and psychiatry vol. 84
Availability: No items available.
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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. [electronic resource] by
- Sevilla, Teresa
- Lupo, Vincenzo
- Martínez-Rubio, Dolores
- Sancho, Paula
- Sivera, Rafael
- Chumillas, María J
- García-Romero, Mar
- Pascual-Pascual, Samuel I
- Muelas, Nuria
- Dopazo, Joaquín
- Vílchez, Juan J
- Palau, Francesc
- Espinós, Carmen
Producer: 20160524
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. [electronic resource] by
- Lupo, Vincenzo
- García-García, Francisco
- Sancho, Paula
- Tello, Cristina
- García-Romero, Mar
- Villarreal, Liliana
- Alberti, Antonia
- Sivera, Rafael
- Dopazo, Joaquín
- Pascual-Pascual, Samuel I
- Márquez-Infante, Celedonio
- Casasnovas, Carlos
- Sevilla, Teresa
- Espinós, Carmen
Producer: 20161031
In:
The Journal of molecular diagnostics : JMD vol. 18
Availability: No items available.
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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. [electronic resource] by
- Sancho, Paula
- Bartesaghi, Luca
- Miossec, Olivia
- García-García, Francisco
- Ramírez-Jiménez, Laura
- Siddell, Anna
- Åkesson, Elisabet
- Hedlund, Eva
- Laššuthová, Petra
- Pascual-Pascual, Samuel I
- Sevilla, Teresa
- Kennerson, Marina
- Lupo, Vincenzo
- Chrast, Roman
- Espinós, Carmen
Producer: 20200207
In:
Human molecular genetics vol. 28
Availability: No items available.
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Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. [electronic resource] by
- Mazón, María J
- Barros, Francisco
- De la Peña, Pilar
- Quesada, Juan F
- Escudero, Adela
- Cobo, Ana M
- Pascual-Pascual, Samuel I
- Gutiérrez-Rivas, Eduardo
- Guillén, Encarna
- Arpa, Javier
- Eraso, Pilar
- Portillo, Francisco
- Molano, Jesús
Producer: 20120709
In:
Neuromuscular disorders : NMD vol. 22
Availability: No items available.
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18.
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Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. [electronic resource] by
- Belaya, Katsiaryna
- Finlayson, Sarah
- Slater, Clarke R
- Cossins, Judith
- Liu, Wei Wei
- Maxwell, Susan
- McGowan, Simon J
- Maslau, Siarhei
- Twigg, Stephen R F
- Walls, Timothy J
- Pascual Pascual, Samuel I
- Palace, Jacqueline
- Beeson, David
Producer: 20120920
In:
American journal of human genetics vol. 91
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Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia. [electronic resource] by
- Sánchez-Ferrero, Elena
- Coto, Eliecer
- Corao, Ana I
- Díaz, Marta
- Gámez, Josep
- Esteban, Jesús
- Gonzalo, Juan F
- Pascual-Pascual, Samuel I
- López De Munaín, Adolfo
- Morís, Germán
- Infante, Jon
- Del Castillo, Emilia
- Márquez, Celedonio
- Alvarez, Victoria
Producer: 20120521
In:
Journal of neurology vol. 259
Availability: No items available.
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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. [electronic resource] by
- Alvarez, Victoria
- Sánchez-Ferrero, Elena
- Beetz, Christian
- Díaz, Marta
- Alonso, Belén
- Corao, Ana I
- Gámez, Josep
- Esteban, Jesús
- Gonzalo, Juan F
- Pascual-Pascual, Samuel I
- López de Munain, Adolfo
- Moris, Germán
- Ribacoba, Renne
- Márquez, Celedonio
- Rosell, Jordi
- Marín, Rosario
- García-Barcina, Maria J
- Del Castillo, Emilia
- Benito, Carmen
- Coto, Eliecer
Producer: 20110106
In:
BMC neurology vol. 10
Availability: No items available.
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