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Carlo Minetti

Showing results (111-120 of 190) with videos related to

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Epileptic Disorders : International Epilepsy Journal with Videotape|April 14, 2021
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutationAntonella Riva, Antonietta Coppola, Ganna Balagura, et al.
Frontiers in Neurology|July 29, 2021
Neuromuscular and Neuroendocrinological Features Associated With <i>ZC4H2</i>-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case ReportGianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, et al.
Biochemical and Biophysical Research Communications|November 14, 2012
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 geneChiara Fiorillo, Giacomo Brisca, Denise Cassandrini, et al.
Human Mutation|May 18, 2004
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyAldobrando Broccolini, Enzo Ricci, Denise Cassandrini, et al.
Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.
American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.
Biochemical and Biophysical Research Communications|July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IVStefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
Biochemical and Biophysical Research Communications|January 25, 2006
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancyElena Gennaro, Filippo M Santorelli, Enrico Bertini, et al.
Pageof 19

Showing results (111-120 of 190) with videos related to

Sort By:
Pageof 19
Epileptic Disorders : International Epilepsy Journal with Videotape|April 14, 2021
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutationAntonella Riva, Antonietta Coppola, Ganna Balagura, et al.
Frontiers in Neurology|July 29, 2021
Neuromuscular and Neuroendocrinological Features Associated With <i>ZC4H2</i>-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case ReportGianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, et al.
Biochemical and Biophysical Research Communications|November 14, 2012
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 geneChiara Fiorillo, Giacomo Brisca, Denise Cassandrini, et al.
Human Mutation|May 18, 2004
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyAldobrando Broccolini, Enzo Ricci, Denise Cassandrini, et al.
Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.
American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.
Biochemical and Biophysical Research Communications|July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IVStefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
Biochemical and Biophysical Research Communications|January 25, 2006
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancyElena Gennaro, Filippo M Santorelli, Enrico Bertini, et al.
Pageof 19