JUAN J
VILCHEZ PADILLA
TITULAR DE UNIVERSIDAD
University of Turin
Turín, ItaliaPublicaciones en colaboración con investigadores/as de University of Turin (2)
2020
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
Acta Neuropathologica, Vol. 139, Núm. 3, pp. 565-582
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488