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Luciano Merlini

Showing results (51-60 of 117) with videos related to

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Cells|March 13, 2024
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular DystrophyVittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, et al.
Muscle & Nerve|April 5, 2002
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathyOlga Camacho Vanegas, Rui-Zhu Zhang, Patrizia Sabatelli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 19, 2018
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of lifeFrank Lehmann-Horn, Adele D'Amico, Enrico Bertini, et al.
Archives of Neurology|November 15, 2006
Cardiac and pulmonary investigations in Bethlem myopathyAnneke J van der Kooi, Willem G de Voogt, Enrico Bertini, et al.
Stroke|March 22, 2003
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal studyGiuseppe Boriani, Margherita Gallina, Luciano Merlini, et al.
Journal of Neurology|September 28, 2015
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesisAndrea Citterio, Alessia Arnoldi, Elena Panzeri, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
International Journal of Molecular Sciences|April 13, 2023
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp PhenotypeMichela Starace, Francesca Pampaloni, Francesca Bruni, et al.
International Journal of Molecular Sciences|December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical ExpressivityGiorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 7, 2025
Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathiesAntonietta Fazio, Patrizia Sabatelli, Cesare Faldini, et al.
Pageof 12

Showing results (51-60 of 117) with videos related to

Sort By:
Pageof 12
Cells|March 13, 2024
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular DystrophyVittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, et al.
Muscle & Nerve|April 5, 2002
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathyOlga Camacho Vanegas, Rui-Zhu Zhang, Patrizia Sabatelli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 19, 2018
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of lifeFrank Lehmann-Horn, Adele D'Amico, Enrico Bertini, et al.
Archives of Neurology|November 15, 2006
Cardiac and pulmonary investigations in Bethlem myopathyAnneke J van der Kooi, Willem G de Voogt, Enrico Bertini, et al.
Stroke|March 22, 2003
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal studyGiuseppe Boriani, Margherita Gallina, Luciano Merlini, et al.
Journal of Neurology|September 28, 2015
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesisAndrea Citterio, Alessia Arnoldi, Elena Panzeri, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
International Journal of Molecular Sciences|April 13, 2023
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp PhenotypeMichela Starace, Francesca Pampaloni, Francesca Bruni, et al.
International Journal of Molecular Sciences|December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical ExpressivityGiorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 7, 2025
Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathiesAntonietta Fazio, Patrizia Sabatelli, Cesare Faldini, et al.
Pageof 12