TY  - JOUR
AU  - Gonzalez-Quereda, Lidia
AU  - Rodriguez, Maria Jose
AU  - Diaz-Manera, Jordi
AU  - Alonso-Perez, Jorge
AU  - Gallardo, Eduard
AU  - Nascimento, Andres
AU  - Ortez, Carlos
AU  - Natera-de Benito, Daniel
AU  - Olive, Montse
AU  - Gonzalez-Mera, Laura
AU  - Munain, Adolfo Lopez de
AU  - Zulaica, Miren
AU  - Poza, Juan Jose
AU  - Jerico, Ivonne
AU  - Torne, Laura
AU  - Riera, Pau
AU  - Milisenda, Jose
AU  - Sanchez, Aurora
AU  - Garrabou, Gloria
AU  - Llano, Isabel
AU  - Madruga-Garrido, Marcos
AU  - Gallano, Pia
PY  - 2020
DO  - 10.3390/genes11050539
UR  - http://hdl.handle.net/10668/15561
T2  - Genes
AB  - The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes,...
LA  - en
KW  - congenital myasthenic syndromes
KW  - congenital myopathies
KW  - muscular dystrophies
KW  - neuromuscular diseases
KW  - targeted next-generation sequencing
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Diseases
KW  - Muscular Diseases
KW  - Mutation
KW  - Neuromuscular Diseases
KW  - Spain
KW  - Young Adult
TI  - Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
TY  - research article
VL  - 11
ER  -