Luciano Merlini - Publications, H-index & Citations

Luciano Merlini

university of bologna

69H指数

381论文数

2.3W被引数

收录论文 95

发表时间

Hair Follicle Microenvironment Changes in Collagen VI-Myopathy Patients with Alopecia 六型胶原蛋白肌病患者中脱发患者的毛囊微环境变化

Cells

IF5.2

2026-08-06

OAAI

Francesca Pampaloni; Bianca Maria Piraccini; Francesca Bruni; Federico Quadrelli; Cosimo Misciali; Luciano Merlini; Alberto Di Martino; Elisa Schena; Vittoria Cenni; Michela Starace; Patrizia Sabatelli

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential VI型胶原蛋白相关肌病中的肌腱功能障碍：具有治疗潜力的新机制见解

International Journal of Molecular Sciences

IF4.9

2026-03-04

OAAI

Patrizia Sabatell; Alberto Di Martino; Cesare Faldini; Paolo Bonaldo; Luciano Merlini; Vittoria Cenni

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity 复发性CAPN3 p.Asp753Asn变异支持一种潜在的显性钙蛋白酶病，其临床表型具有可变性。

International Journal of Molecular Sciences 2025, Vol. 26, Page 11384

IF4.9

2025-11-25

OAAI

Giorgia D’Este; Alejandro Giorgetti; Denise Cassandrini; Francesca Magri; Dario Ronchi; Anna Rubegni; Diego Lopergolo; Alessandro Malandrini; Luciano Merlini; Gaetano Vattemi; Paola Tonin; Rita Barresi

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析：一项全国性报告

Biomolecules 2025, Vol. 15, Page 1426

IF4.8

2025-10-08

OAAI

Fernanda Fortunato; Laura Fiocco; Alice Margutti; Marcella Neri; Adele D’Amico; Enrico Bertini; Enzo Ricci; Eugenio Maria Mercuri; Marika Pane; Roberto Massa; Giulia Greco; Angela Lucia Berardinelli; Cristina Cereda; Antonella Pini; Luciano Merlini; Carlo Fusco; Carmelo Rodolico; Sonia Messina; Chiara Fiorillo; Claudio Bruno; Marina Pedemonte; Monica Traverso; Isabella Moroni; Lorenzo Maggi; Sara Gibertini; Elena Pegoraro; Esther Picillo; Luisa Politano; Marianna Scutifero; Fabiana Vercellino; Francesca Massaro; Massimiliano Filosto; Paolo Gasparini; Federica Ricci; Tiziana Enrica Mongini; Rita Selvatici; Alessandra Ferlini; Francesca Gualandi

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies 缺陷的胶原蛋白VI-NG2轴损害COLVI相关肌病中周细胞增殖与静止状态之间的平衡

biochimica et biophysica acta molecular basis of disease

IF0

2025-08-06

PREAI

Antonietta Fazio; Patrizia Sabatelli; Cesare Faldini; Alberto Di Martino; Maria Vittoria Marvi; Irene Neri; Foteini Dionysia Koufi; Luciano Merlini; Lucia Manzoli; Stefano Ratti; Camilla Evangelisti

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain

IF11.7

2025-04-03

OAAI

A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

CELLS

IF5.2

2024-02-22

OAAI

Cenni, Vittoria; Sabatelli, Patrizia; Di Martino, Alberto; Merlini, Luciano; Antoniel, Manuela; Squarzoni, Stefano; Neri, Simona; Santi, Spartaco; Metti, Samuele; Bonaldo, Paolo; Faldini, Cesare

Duchenne Muscular Dystrophy Gene Therapy 杜氏肌营养不良基因治疗

CURRENT GENE THERAPY

IF3.3

2024-02-01

PREAI

Saad, Fawzy A.; Saad, Jasen F.; Siciliano, Gabriele; Merlini, Luciano; Angelini, Corrado

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2023-03-21

OAAI

Cardone, Nastasia; Moula, Melissa; Baelde, Rianne J.; Biquand, Ariane; Villanova, Marcello; Metay, Corinne; Fiorillo, Chiara; Baratto, Serena; Merlini, Luciano; Sabatelli, Patrizia; Romero, Norma B.; Relaix, Frederic; Authier, Francois Jerome; Taglietti, Valentina; Savarese, Marco; de Winter, Josine; Ottenheijm, Coen; Richard, Isabelle; Malfatti, Edoardo

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

STEM CELL RESEARCH & THERAPY

IF7.3

2020-11-02

OAAI

Alexeev, Vitali; Olavarria, Jacquelyn; Bonaldo, Paolo; Merlini, Luciano; Igoucheva, Olga

The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series

NEUROLOGY

IF8.5

2020-09-15

OAAI

Villar-Quiles, Rocio N.; von Der Hagen, Maja; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

CELLS

IF5.2

2020-02-11

OAAI

Antoniel, Manuela; Traina, Francesco; Merlini, Luciano; Andrenacci, Davide; Tigani, Domenico; Santi, Spartaco; Cenni, Vittoria; Sabatelli, Patrizia; Faldini, Cesare; Squarzoni, Stefano

Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

PHARMACOLOGICAL RESEARCH

IF10.5

2017-11-01

OAAI

Schiavone, Marco; Zulian, Alessandra; Menazza, Sara; Petronilli, Valeria; Argenton, Francesco; Merlini, Luciano; Sabatelli, Patrizia; Bernardi, Paolo

Editorial: Muscle-Tendon-Innervation Unit: Degeneration and Aging-Pathophysiological and Regeneration Mechanisms

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2016-12-26

OAAI

Merlini, Luciano; Faldini, Cesare; Bonaldo, Paolo

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

AUTOPHAGY

IF14.3

2016-11-01

OAAI

Castagnaro, Silvia; Pellegrini, Camilla; Pellegrini, Massimo; Chrisam, Martina; Sabatelli, Patrizia; Toni, Silvia; Grumati, Paolo; Ripamonti, Claudio; Pratelli, Loredana; Maraldi, Nadir M.; Cocchi, Daniela; Righi, Valeria; Faldini, Cesare; Sandri, Marco; Bonaldo, Paolo; Merlini, Luciano

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

JOURNAL OF CELL SCIENCE

IF3.6

2016-04-15

OAAI

Scotton, Chiara; Bovolenta, Matteo; Schwartz, Elena; Falzarano, Maria Sofia; Martoni, Elena; Passarelli, Chiara; Armaroli, Annarita; Osman, Hana; Rodolico, Carmelo; Messina, Sonia; Pegoraro, Elena; D'Amico, Adele; Bertini, Enrico; Gualandi, Francesca; Neri, Marcella; Selvatici, Rita; Boffi, Patrizia; Maioli, Maria Antonietta; Lochmuller, Hanns; Straub, Volker; Bushby, Katherine; Castrignano, Tiziana; Pesole, Graziano; Sabatelli, Patrizia; Merlini, Luciano; Braghetta, Paola; Bonaldo, Paolo; Bernardi, Paolo; Foley, Reghan; Cirak, Sebahattin; Zaharieva, Irina; Muntoni, Francesco; Capitanio, Daniele; Gelfi, Cecilia; Kotelnikova, Ekaterina; Yuryev, Anton; Lebowitz, Michael; Zhang, Xiping; Hodge, Brian A.; Esser, Karyn A.; Ferlini, Alessandra

Editorial: Pathophysiological mechanisms of sarcopenia in aging and in muscular dystrophy: a translational approach

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2015-08-13

OAAI

Merlini, Luciano; Bonaldo, Paolo; Marzetti, Emanuele

Detecting Collagen VI in Bethlem Myopathy

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2015-03-01

OAAI

Sabatelli, Patrizia; Gualandi, Francesca; Bonaldo, Paolo; Merlini, Luciano

Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2014-11-20

OAAI

Zulian, Alessandra; Tagliavini, Francesca; Rizzo, Erika; Pellegrini, Camilla; Sardone, Francesca; Zini, Nicoletta; Maraldi, Nadir Mario; Santi, Spartaco; Faldini, Cesare; Merlini, Luciano; Petronilli, Valeria; Bernardi, Paolo; Sabatelli, Patrizia

Nutritional status evaluation in patients affected by Bethlem myopathy and Ullrich congenital muscular dystrophy

FRONTIERS IN AGING NEUROSCIENCE

IF4.5

2014-11-17

OAAI

Toni, Silvia; Morandi, Riccardo; Busacchi, Marcello; Tardini, Lucia; Merlini, Luciano; Battistini, Nino Carlo; Pellegrini, Massimo

研究方向