ANGEL MARIA
CARRACEDO ALVAREZ
University professor
Patricia
Blanco Arias
Publications by the researcher in collaboration with Patricia Blanco Arias (6)
2015
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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Applied and Translational Genomics, Vol. 5, pp. 33-36
2012
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
Brain, Vol. 135, Núm. 5, pp. 1423-1435
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Actualización en la base genética de las distonías
Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32
2011
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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262
2009
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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377
2006
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Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503