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Luciano Merlini

Researcher at University of Bologna

Publications -  281
Citations -  22219

Luciano Merlini is an academic researcher from University of Bologna. The author has contributed to research in topics: Muscular dystrophy & Ullrich congenital muscular dystrophy. The author has an hindex of 66, co-authored 276 publications receiving 20779 citations. Previous affiliations of Luciano Merlini include Edith Cowan University & University of Rome Tor Vergata.

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, +13 more
- 01 Mar 1999 - 
TL;DR: This work has mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus, and identified four mutations in LMNA that co-segregate with the disease phenotype in the five families.
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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, +16 more
- 01 Nov 2002 - 
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Giuseppe Novelli, +15 more
- 01 Aug 2002 - 
TL;DR: Pat skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation, which was shared by all affected patients.
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Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

Paolo Grumati, +14 more
- 01 Nov 2010 - 
TL;DR: Force activation of autophagy by genetic, dietary and pharmacological approaches restored myofiber survival and ameliorated the dystrophic phenotype of Col6a1−/− mice, indicating that defective activation of the autophagic machinery is pathogenic in some congenital muscular dystrophies.