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Luciano Merlini

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Physiology

Concepts & Ideas

Pedigree

Procedures

Anatomy

Skeletal Muscle

Chemicals & Drugs

Geographic Areas

Italy

Living Beings

Gypsies

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Publications

TOP 3
Spitali Pietro; Rimessi Paola; Fabris Marina; Perrone Daniela; Falzarano Sofia; Bovolenta Matteo; Trabanelli Cecilia; Mari Lara; Bassi Elena; Tuffery Sylvie; Gualandi Francesca; Maraldi Nadir M; Sabatelli-Giraud Patrizia; Medici Alessandro; Merlini Luciano; Ferlini Alessandra
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
Tiepolo T; Angelin A; Palma E; Sabatelli P; Merlini L; Nicolosi L; Finetti F; Braghetta P; Vuagniaux G; Dumont J-M; Baldari C T; Bonaldo P; Bernardi P
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice.
Merlini Luciano
Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy.

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All Publications

2009: Spitali Pietro; Rimessi Paola; Fabris Marina; Perrone Daniela; Falzarano Sofia; Bovolenta Matteo; Trabanelli Cecilia; Mari Lara; Bassi Elena; Tuffery Sylvie; Gualandi Francesca; Maraldi Nadir M; Sabatelli-Giraud Patrizia; Medici Alessandro; Merlini Luciano; Ferlini Alessandra
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
Human mutation 2009;30(11):1527-34.
2009: Tiepolo T; Angelin A; Palma E; Sabatelli P; Merlini L; Nicolosi L; Finetti F; Braghetta P; Vuagniaux G; Dumont J-M; Baldari C T; Bonaldo P; Bernardi P
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice.
British journal of pharmacology 2009;157(6):1045-52.
2009: Merlini Luciano
Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD 2009;19(7):500-1.
2009: Martoni Elena; Urciuolo Anna; Sabatelli Patrizia; Fabris Marina; Bovolenta Matteo; Neri Marcella; Grumati Paolo; D'Amico Adele; Pane Marika; Mercuri Eugenio; Bertini Enrico; Merlini Luciano; Bonaldo Paolo; Ferlini Alessandra; Gualandi Francesca
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
Human mutation 2009;30(5):E662-72.
2009: Rimessi Paola; Sabatelli Patrizia; Fabris Marina; Braghetta Paola; Bassi Elena; Spitali Pietro; Vattemi Gaetano; Tomelleri Giuliano; Mari Lara; Perrone Daniela; Medici Alessandro; Neri Marcella; Bovolenta Matteo; Martoni Elena; Maraldi Nadir M; Gualandi Francesca; Merlini Luciano; Ballestri Marco; Tondelli Luisa; Sparnacci Katia; Bonaldo Paolo; Caputo Antonella; Laus Michele; Ferlini Alessandra
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(5):820-7.
2009: Gualandi F; Neri M; Bovolenta M; Martoni E; Rimessi P; Fini S; Spitali P; Fabris M; Pane M; Angelini C; Mora M; Morandi L; Mongini T; Bertini E; Ricci E; Vattemi G; Mercuri E; Merlini L; Ferlini A
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
Human mutation 2009;30(2):E310-9.
2008: Merlini Luciano; Bernardi Paolo
Therapy of collagen VI-related myopathies (Bethlem and Ullrich).
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):613-8.
2008: Merlini L; Martoni E; Grumati P; Sabatelli P; Squarzoni S; Urciuolo A; Ferlini A; Gualandi F; Bonaldo P
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Neurology 2008;71(16):1245-53.
2008: Dierick Ines; Baets Jonathan; Irobi Joy; Jacobs An; De Vriendt Els; Deconinck Tine; Merlini Luciano; Van den Bergh Peter; Rasic Vedrana Milic; Robberecht Wim; Fischer Dirk; Morales Raul Juntas; Mitrovic Zoran; Seeman Pavel; Mazanec Radim; Kochanski Andrzej; Jordanova Albena; Auer-Grumbach Michaela; Helderman-van den Enden A T J M; Wokke John H J; Nelis Eva; De Jonghe Peter; Timmerman Vincent
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain : a journal of neurology 2008;131(Pt 5):1217-27.
2008: Merlini Luciano; Angelin Alessia; Tiepolo Tania; Braghetta Paola; Sabatelli Patrizia; Zamparelli Alessandra; Ferlini Alessandra; Maraldi Nadir M; Bonaldo Paolo; Bernardi Paolo
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(13):5225-9.
2008: Merlini Luciano
Marinesco-Sjogren syndrome, fanfare, and more.
Neuromuscular disorders : NMD 2008;18(2):185-8.
2008: Manya Hiroshi; Bouchet Céline; Yanagisawa Akiko; Vuillaumier-Barrot Sandrine; Quijano-Roy Susana; Suzuki Yasushi; Maugenre Svetlana; Richard Pascale; Inazu Toshiyuki; Merlini Luciano; Romero Norma B; Leturcq France; Bezier Isabelle; Topaloglu Haluk; Estournet Brigitte; Seta Nathalie; Endo Tamao; Guicheney Pascale
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
2008: Bovolenta Matteo; Neri Marcella; Fini Sergio; Fabris Marina; Trabanelli Cecilia; Venturoli Anna; Martoni Elena; Bassi Elena; Spitali Pietro; Brioschi Simona; Falzarano Maria S; Rimessi Paola; Ciccone Roberto; Ashton Emma; McCauley Joanne; Yau Shu; Abbs Stephen; Muntoni Francesco; Merlini Luciano; Gualandi Francesca; Ferlini Alessandra
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
BMC genomics 2008;9():572.
2007: Neri Marcella; Torelli Silvia; Brown Sue; Ugo Isabella; Sabatelli Patrizia; Merlini Luciano; Spitali Pietro; Rimessi Paola; Gualandi Francesca; Sewry Caroline; Ferlini Alessandra; Muntoni Francesco
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Neuromuscular disorders : NMD 2007;17(11-12):913-8.
2007: Giannini Sandro; Faldini Cesare; Pagkrati Stavroula; Grandi Gianluca; Digennaro Vitantonio; Luciani Deianira; Merlini Luciano
Fixation of winged scapula in facioscapulohumeral muscular dystrophy.
Clinical medicine & research 2007;5(3):155-62.
2007: Benedetti S; Menditto I; Degano M; Rodolico C; Merlini L; D'Amico A; Palmucci L; Berardinelli A; Pegoraro E; Trevisan C P; Morandi L; Moroni I; Galluzzi G; Bertini E; Toscano A; Olivè M; Bonne G; Mari F; Caldara R; Fazio R; Mammì I; Carrera P; Toniolo D; Comi G; Quattrini A; Ferrari M; Previtali S C
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Neurology 2007;69(12):1285-92.
2007: Krause S; Aleo A; Hinderlich S; Merlini L; Tournev I; Walter M C; Argov Z; Mitrani-Rosenbaum S; Lochmüller H
GNE protein expression and subcellular distribution are unaltered in HIBM.
Neurology 2007;69(7):655-9.
2007: Baránková L; Vyhnálková E; Züchner S; Mazanec R; Sakmaryová I; Vondrácek P; Merlini L; Bojar M; Nelis E; De Jonghe P; Seeman P
GDAP1 mutations in Czech families with early-onset CMT.
Neuromuscular disorders : NMD 2007;17(6):482-9.
2007: Angelin Alessia; Tiepolo Tania; Sabatelli Patrizia; Grumati Paolo; Bergamin Natascha; Golfieri Cristina; Mattioli Elisabetta; Gualandi Francesca; Ferlini Alessandra; Merlini Luciano; Maraldi Nadir M; Bonaldo Paolo; Bernardi Paolo
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(3):991-6.
2006: Vazza G; Merlini L; Bertolin C; Zortea M; Mostacciuolo M L
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
Neuromuscular disorders : NMD 2006;16(12):878-81.
2006: van der Kooi Anneke J; de Voogt Willem G; Bertini Enrico; Merlini Luciano; Talim F Beril; Ben Yaou Rabah; Urtziberea Andoni; de Visser Marianne
Cardiac and pulmonary investigations in Bethlem myopathy.
Archives of neurology 2006;63(11):1617-21.
2006: Stum Morgane; Davoine Claire-Sophie; Vicart Savine; Guillot-Noël Léna; Topaloglu Haluk; Carod-Artal Francisco Javier; Kayserili Hülya; Hentati Fayçal; Merlini Luciano; Urtizberea Jon Andoni; Hammouda El-Hadi; Quan Phuc Canh; Fontaine Bertrand; Nicole Sophie
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Human mutation 2006;27(11):1082-91.
2006: Montalvo A L E; Bembi B; Donnarumma M; Filocamo M; Parenti G; Rossi M; Merlini L; Buratti E; De Filippi P; Dardis A; Stroppiano M; Ciana G; Pittis M G
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Human mutation 2006;27(10):999-1006.
2006: Giannini Sandro; Ceccarelli Francesco; Faldini Cesare; Pagkrati Stavroula; Merlini Luciano
Scapulopexy of winged scapula secondary to facioscapulohumeral muscular dystrophy.
Clinical orthopaedics and related research 2006;449():288-94.
2006: Giannini Sandro; Faldini Cesare; Pagkrati Stavroula; Grandi Gianluca; Romagnoli Matteo; Merlini Luciano
Surgical treatment of neck hyperextension in duchenne muscular dystrophy by posterior interspinous fusion.
Spine 2006;31(16):1805-9.
2006: van Reeuwijk Jeroen; Maugenre Svetlana; van den Elzen Christa; Verrips Aad; Bertini Enrico; Muntoni Francesco; Merlini Luciano; Scheffer Hans; Brunner Han G; Guicheney Pascale; van Bokhoven Hans
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Maraldi N M; Lattanzi G; Capanni C; Columbaro M; Merlini L; Mattioli E; Sabatelli P; Squarzoni S; Manzoli F A
Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies.
European journal of histochemistry : EJH 2006;50(1):1-8.
2006: Squarzoni Stefano; Sabatelli Patrizia; Bergamin Natascha; Guicheney Pascale; Demir Ercan; Merlini Luciano; Lattanzi Giovanna; Ognibene Andrea; Capanni Cristina; Mattioli Elisabetta; Columbaro Marta; Bonaldo Paolo; Maraldi Nadir Mario
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.
Journal of cellular physiology 2006;206(1):160-6.
2005: Torelli Silvia; Brown Susan C; Brockington Martin; Dolatshad Nazanin F; Jimenez Cecilia; Skordis Leigh; Feng Lucy H; Merlini Luciano; Jones David Hilton; Romero Norma; Wewer Ulla; Voit Thomas; Sewry Caroline A; Noguchi Satoru; Nishino Ichizo; Muntoni Francesco
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Neuromuscular disorders : NMD 2005;15(12):836-43.
2005: van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; Brockington M; Muntoni F; Huynen M A; Verrips A; Walsh C A; Barth P G; Brunner H G; van Bokhoven H
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Petrini Stefania; Tessa Alessandra; Stallcup William B; Sabatelli Patrizia; Pescatori Mario; Giusti Betti; Carrozzo Rosalba; Verardo Margherita; Bergamin Natascha; Columbaro Marta; Bernardini Camilla; Merlini Luciano; Pepe Guglielmina; Bonaldo Paolo; Bertini Enrico
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.
Molecular and cellular neurosciences 2005;30(3):408-17.
2005: Giusti Betti; Lucarini Laura; Pietroni Valentina; Lucioli Simona; Bandinelli Brunella; Sabatelli Patrizia; Squarzoni Stefano; Petrini Stefania; Gartioux Corine; Talim Beril; Roelens Filip; Merlini Luciano; Topaloglu Haluk; Bertini Enrico; Guicheney Pascale; Pepe Guglielmina
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Annals of neurology 2005;58(3):400-10.
2005: Cagliani Rachele; Magri Francesca; Toscano Antonio; Merlini Luciano; Fortunato Francesco; Lamperti Costanza; Rodolico Carmelo; Prelle Alessandro; Sironi Manuela; Aguennouz Mohammed; Ciscato Patrizia; Uncini Antonino; Moggio Maurizio; Bresolin Nereo; Comi Giacomo P
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
Human mutation 2005;26(3):283.
2005: Lucioli S; Giusti B; Mercuri E; Vanegas O Camacho; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; de Visser M; van der Kooi A J; Bönnemann C; Iannaccone S T; Merlini L; Bushby K; Muntoni F; Bertini E; Chu M-L; Pepe G
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Neurology 2005;64(11):1931-7.
2005: Merlini Luciano; Sabatelli Patrizia; Columbaro Marta; Bonifazi Emanuela; Pisani Valerio; Massa Roberto; Novelli Giuseppe
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.
Muscle & nerve 2005;31(6):764-7.
2005: Giannini Sandro; Ceccarelli Francesco; Faldini Cesare; Pagkrati Stavroula; Merlini Luciano
Surgical treatment of neck hyperextension in myopathies.
Clinical orthopaedics and related research 2005;(434):151-6.
2005: Sáenz A; Leturcq F; Cobo A M; Poza J J; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan J C; Urtizberea J A; Martí-Massó J F; López de Munain A
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Brain : a journal of neurology 2005;128(Pt 4):732-42.
2005: Cenni V; Sabatelli P; Mattioli E; Marmiroli S; Capanni C; Ognibene A; Squarzoni S; Maraldi N M; Bonne G; Columbaro M; Merlini L; Lattanzi G
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
Journal of medical genetics 2005;42(3):214-20.
2005: Rimessi Paola; Gualandi Francesca; Duprez Laurence; Spitali Pietro; Neri Marcella; Merlini Luciano; Calzolari Elisa; Muntoni Francesco; Ferlini Alessandra
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.
American journal of medical genetics. Part A 2005;132(4):391-4.
2005: Kalaydjieva Luba; Lochmüller Hanns; Tournev Ivailo; Baas Frank; Beres Judit; Colomer Jaume; Guergueltcheva Velina; Herrmann Ralf; Karcagi Veronika; King Rosalind; Miyata Toshiyuki; Müllner-Eidenböck Andrea; Okuda Tomohiko; Milic Rasic Vedrana; Santos Manuela; Talim Beril; Vilchez Juan; Walter Maggie; Urtizberea Andoni; Merlini Luciano
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(1):65-71.
2004: Benedetti Sara; Merlini Luciano
Laminopathies: from the heart of the cell to the clinics.
Current opinion in neurology 2004;17(5):553-60.
2004: Irobi Joy; Van den Bergh Peter; Merlini Luciano; Verellen Christine; Van Maldergem Lionel; Dierick Ines; Verpoorten Nathalie; Jordanova Albena; Windpassinger Christian; De Vriendt Els; Van Gerwen Veerle; Auer-Grumbach Michaela; Wagner Klaus; Timmerman Vincent; De Jonghe Peter
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Brain : a journal of neurology 2004;127(Pt 9):2124-30.
2004: Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
Neuropediatrics 2004;35(2):103-12.
2004: Merlini Luciano; Bertini Enrico; Minetti Carlo; Mongini Tiziana; Morandi Lucia; Angelini Corrado; Vita Giuseppe
Motor function-muscle strength relationship in spinal muscular atrophy.
Muscle & nerve 2004;29(4):548-52.
2004: Windpassinger Christian; Auer-Grumbach Michaela; Irobi Joy; Patel Heema; Petek Erwin; Hörl Gerd; Malli Roland; Reed Johanna A; Dierick Ines; Verpoorten Nathalie; Warner Thomas T; Proukakis Christos; Van den Bergh Peter; Verellen Christine; Van Maldergem Lionel; Merlini Luciano; De Jonghe Peter; Timmerman Vincent; Crosby Andrew H; Wagner Klaus
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nature genetics 2004;36(3):271-6.
2003: Capanni Cristina; Sabatelli Patrizia; Mattioli Elisabetta; Ognibene Andrea; Columbaro Marta; Lattanzi Giovanna; Merlini Luciano; Minetti Carlo; Maraldi Nadir M; Squarzoni Stefano
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.
Experimental & molecular medicine 2003;35(6):538-44.
2003: Vytopil M; Benedetti S; Ricci E; Galluzzi G; Dello Russo A; Merlini L; Boriani G; Gallina M; Morandi L; Politano L; Moggio M; Chiveri L; Hausmanova-Petrusewicz I; Ricotti R; Vohanka S; Toman J; Toniolo D
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Journal of medical genetics 2003;40(12):e132.
2003: Irwin William A; Bergamin Natascha; Sabatelli Patrizia; Reggiani Carlo; Megighian Aram; Merlini Luciano; Braghetta Paola; Columbaro Marta; Volpin Dino; Bressan Giorgio M; Bernardi Paolo; Bonaldo Paolo
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
Nature genetics 2003;35(4):367-71.
2003: Hantke Janina; Rogers Tamara; French Lisa; Tournev Ivailo; Guergueltcheva Velina; Urtizberea Jon Andoni; Colomer Jaume; Corches Axinia; Lupu Constantin; Merlini Luciano; Thomas P K; Kalaydjieva Luba
Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.
Neuromuscular disorders : NMD 2003;13(9):729-36.
2003: Ammar Nadia; Nelis Eva; Merlini Luciano; Barisic Nina; Amouri Rim; Ceuterick Chantal; Martin Jean Jacques; Timmerman Vincent; Hentati Fayçal; De Jonghe Peter
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2003;13(9):720-8.
2003: Longman Cheryl; Brockington Martin; Torelli Silvia; Jimenez-Mallebrera Cecilia; Kennedy Colin; Khalil Nofal; Feng Lucy; Saran Ravindra K; Voit Thomas; Merlini Luciano; Sewry Caroline A; Brown Susan C; Muntoni Francesco
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Human molecular genetics 2003;12(21):2853-61.
2003: Varon Raymonda; Gooding Rebecca; Steglich Christina; Marns Lorna; Tang Hua; Angelicheva Dora; Yong Kiau Kiun; Ambrugger Petra; Reinhold Anke; Morar Bharti; Baas Frank; Kwa Marcel; Tournev Ivailo; Guerguelcheva Velina; Kremensky Ivo; Lochmüller Hanns; Müllner-Eidenböck Andrea; Merlini Luciano; Neumann Luitgard; Bürger Joachim; Walter Maggie; Swoboda Kathryn; Thomas P K; von Moers Arpad; Risch Neil; Kalaydjieva Luba
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nature genetics 2003;35(2):185-9.
2003: Muntoni F; Valero de Bernabe B; Bittner R; Blake D; van Bokhoven H; Brockington M; Brown S; Bushby K; Campbell K P; Fiszman M; Gruenewald S; Merlini L; Quijano-Roy S; Romero N; Sabatelli P; Sewry C A; Straub V; Talim B; Topaloglu H; Voit T; Yurchenco P D; Urtizberea J A; Wewer U M; Guicheney P
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular disorders : NMD 2003;13(7-8):579-88.
2003: Merlini Luciano; Solari Alessandra; Vita Giuseppe; Bertini Enrico; Minetti Carlo; Mongini Tiziana; Mazzoni Elena; Angelini Corrado; Morandi Lucia
Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study.
Journal of child neurology 2003;18(8):537-41.
2003: Bonne Gisèle; Yaou Rabah Ben; Béroud Christophe; Boriani Giuseppe; Brown Sue; de Visser Marianne; Duboc Denis; Ellis Juliet; Hausmanowa-Petrusewicz Irena; Lattanzi Giovanna; Merlini Luciano; Morris Glenn; Muntoni Francesco; Opolski Grzegorz; Pinto Yigal M; Sangiuolo Federica; Toniolo Daniela; Trembath Richard; van Berlo Jop H; van der Kooi Anneke J; Wehnert Manfred
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2003;13(6):508-15.
2003: Merlini Luciano; Tomba Patrizia; Viganò Anna
Berengario da Carpi, a pioneer in anatomy, rediscovered by Vittorio Putti.
Neuromuscular disorders : NMD 2003;13(5):421-5.
2003: Müller J S; Mildner G; Müller-Felber W; Schara U; Krampfl K; Petersen B; Petrova S; Stucka R; Mortier W; Bufler J; Kurlemann G; Huebner A; Merlini L; Lochmüller H; Abicht A
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Neurology 2003;60(11):1805-10.
2003: Sabatelli Patrizia; Columbaro Marta; Mura Isabella; Capanni Cristina; Lattanzi Giovanna; Maraldi Nadir M; Beltràn-Valero de Barnabè Daniel; van Bokoven Hans; Squarzoni Stefano; Merlini Luciano
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
Biochimica et biophysica acta 2003;1638(1):57-62.
2003: Lattanzi Giovanna; Cenni Vittoria; Marmiroli Sandra; Capanni Cristina; Mattioli Elisabetta; Merlini Luciano; Squarzoni Stefano; Maraldi Nadir Mario
Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts.
Biochemical and biophysical research communications 2003;303(3):764-70.
2003: Martinuzzi Andrea; Sartori Elena; Fanin Marina; Nascimbeni Annachiara; Valente Lucia; Angelini Corrado; Siciliano Gabriele; Mongini Tiziana; Tonin Paola; Tomelleri Giuliano; Toscano Antonio; Merlini Luciano; Bindoff Laurence A; Bertelli Stefano
Phenotype modulators in myophosphorylase deficiency.
Annals of neurology 2003;53(4):497-502.
2003: Boriani Giuseppe; Gallina Margherita; Merlini Luciano; Bonne Gisèle; Toniolo Daniela; Amati Silvia; Biffi Mauro; Martignani Cristian; Frabetti Lorenzo; Bonvicini Marco; Rapezzi Claudio; Branzi Angelo
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Stroke; a journal of cerebral circulation 2003;34(4):901-8.
2003: Merlini Luciano; Cicognani Alessandro; Malaspina Elisabetta; Gennari Monia; Gnudi Saverio; Talim Beril; Franzoni Emilio
Early prednisone treatment in Duchenne muscular dystrophy.
Muscle & nerve 2003;27(2):222-7.
2003: Eisenberg Iris; Grabov-Nardini Gil; Hochner Hagit; Korner Mira; Sadeh Menachem; Bertorini Tulio; Bushby Kate; Castellan Claudio; Felice Kevin; Mendell Jerry; Merlini Luciano; Shilling Christopher; Wirguin Itshak; Argov Zohar; Mitrani-Rosenbaum Stella
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Human mutation 2003;21(1):99.
2002: Pepe Guglielmina; Bertini Enrico; Bonaldo Paolo; Bushby Kate; Giusti Betti; de Visser Marianne; Guicheney Pascale; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Nishino Ichizo; Nonaka Ikuya; Yaou Rabah Ben; Sabatelli Patrizia; Sewry Caroline; Topaloglu Haluk; van der Kooi Anneke
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(10):984-93.
2002: Vytopil Michal; Ricci Enzo; Dello Russo Antonio; Hanisch Frank; Neudecker Stephan; Zierz Stephan; Ricotti Roberta; Demay Laurence; Richard Pascale; Wehnert Manfred; Bonne Gisèle; Merlini Luciano; Toniolo Daniela
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD 2002;12(10):958-63.
2002: Muntoni F; Bertini E; Bönnemann C; Brockington M; Brown S; Bushby K; Fiszman M; Körner C; Mercuri E; Merlini L; Hewitt J; Quijano-Roy S; Romero N; Squarzoni S; Sewry C A; Straub V; Topaloglu H; Haliloglu G; Voit T; Wewer U; Guicheney P
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(9):889-96.
2002: Beltrán-Valero de Bernabé Daniel; Currier Sophie; Steinbrecher Alice; Celli Jacopo; van Beusekom Ellen; van der Zwaag Bert; Kayserili Hülya; Merlini Luciano; Chitayat David; Dobyns William B; Cormand Bru; Lehesjoki Ana-Elina; Cruces Jesús; Voit Thomas; Walsh Christopher A; van Bokhoven Hans; Brunner Han G
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: Mercuri Eugenio; Talim Beril; Moghadaszadeh Behzad; Petit Nathalie; Brockington Martin; Counsell Serena; Guicheney Pascale; Muntoni Francesco; Merlini Luciano
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Neuromuscular disorders : NMD 2002;12(7-8):631-8.
2002: van der Kooi A J; Bonne G; Eymard B; Duboc D; Talim B; Van der Valk M; Reiss P; Richard P; Demay L; Merlini L; Schwartz K; Busch H F M; de Visser M
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology 2002;59(4):620-3.
2002: Novelli Giuseppe; Muchir Antoine; Sangiuolo Federica; Helbling-Leclerc Anne; D'Apice Maria Rosaria; Massart Catherine; Capon Francesca; Sbraccia Paolo; Federici Massimo; Lauro Renato; Tudisco Cosimo; Pallotta Rosanna; Scarano Gioacchino; Dallapiccola Bruno; Merlini Luciano; Bonne Gisèle
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
American journal of human genetics 2002;71(2):426-31.
2002: Merlini Luciano; Mazzone Elena Stacy; Solari Alessandra; Morandi Lucia
Reliability of hand-held dynamometry in spinal muscular atrophy.
Muscle & nerve 2002;26(1):64-70.
2002: Merlini L; Carbone I; Capanni C; Sabatelli P; Tortorelli S; Sotgia F; Lisanti M P; Bruno C; Minetti C
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
Journal of neurology, neurosurgery, and psychiatry 2002;73(1):65-7.
2002: Demir Ercan; Sabatelli Patrizia; Allamand Valérie; Ferreiro Ana; Moghadaszadeh Behzad; Makrelouf Mohamed; Topaloglu Haluk; Echenne Bernard; Merlini Luciano; Guicheney Pascale
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
American journal of human genetics 2002;70(6):1446-58.
2002: Vanegas Olga Camacho; Zhang Rui-Zhu; Sabatelli Patrizia; Lattanzi Giovanna; Bencivenga Paola; Giusti Betti; Columbaro Marta; Chu Mon-Li; Merlini Luciano; Pepe Guglielmina
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
Muscle & nerve 2002;25(4):513-9.
2002: Pepe Guglielmina; de Visser Marianne; Bertini Enrico; Bushby Kate; Vanegas Olga Camacho; Chu Mon Li; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Urtizberea Andoni
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(3):296-305.
2002: Talim B; Malaguti C; Gnudi S; Politano L; Merlini L
Vertebral compression in Duchenne muscular dystrophy following deflazacort.
Neuromuscular disorders : NMD 2002;12(3):294-5.
2002: Merlini Luciano; Estournet-Mathiaud Brigitte; Iannaccone Susan; Melki Judith; Muntoni Francesco; Rudnik-Schöneborn Sabine; Topaloglu Haluk; Vita Giuseppe; Voit Thomas
90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(2):201-10.
2002: Bonne Gisèle; Capeau Jaqueline; De Visser Marianne; Duboc Denis; Merlini Luciano; Morris Glenn E; Muntoni Francesco; Recan Dominique; Sewry Caroline; Squarzoni Stefano; Stewart Colin; Talim Beril; van der Kooi Anneke; Worman Howard; Schwartz Ketty
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(2):187-94.
2002: Merlini L; Gooding R; Lochmüller H; Müller-Felber W; Walter M C; Angelicheva D; Talim B; Hallmayer J; Kalaydjieva L
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology 2002;58(2):231-6.
2001: Lui F; Fonda S; Merlini L; Corazza R
Saccadic eye movements are impaired in Duchenne muscular dystrophy.
Documenta ophthalmologica. Advances in ophthalmology 2001;103(3):219-28.
2001: Sabatelli P; Bonaldo P; Lattanzi G; Braghetta P; Bergamin N; Capanni C; Mattioli E; Columbaro M; Ognibene A; Pepe G; Bertini E; Merlini L; Maraldi N M; Squarzoni S
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts.
Matrix biology : journal of the International Society for Matrix Biology 2001;20(7):475-86.
2001: Thomas P K; Kalaydjieva L; Youl B; Rogers T; Angelicheva D; King R H; Guergueltcheva V; Colomer J; Lupu C; Corches A; Popa G; Merlini L; Shmarov A; Muddle J R; Nourallah M; Tournev I
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
Annals of neurology 2001;50(4):452-7.
2001: Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Roy S Q; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Sabatelli P; Lattanzi G; Ognibene A; Columbaro M; Capanni C; Merlini L; Maraldi N M; Squarzoni S
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy.
Muscle & nerve 2001;24(6):826-9.
2001: Talim B; Ognibene A; Mattioli E; Richard I; Anderson L V; Merlini L
Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A.
Neurology 2001;56(5):692-3.
2001: Mostacciuolo M L; Righetti E; Zortea M; Bosello V; Schiavon F; Vallo L; Merlini L; Siciliano G; Fabrizi G M; Rizzuto N; Milani M; Baratta S; Taroni F
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Human mutation 2001;18(1):32-41.
2000: Lattanzi G; Ognibene A; Sabatelli P; Capanni C; Toniolo D; Columbaro M; Santi S; Riccio M; Merlini L; Maraldi N M; Squarzoni S
Emerin expression at the early stages of myogenic differentiation.
Differentiation; research in biological diversity 2000;66(4-5):208-17.
2000: Chandler D; Angelicheva D; Heather L; Gooding R; Gresham D; Yanakiev P; de Jonge R; Baas F; Dye D; Karagyozov L; Savov A; Blechschmidt K; Keats B; Thomas P K; King R H; Starr A; Nikolova A; Colomer J; Ishpekova B; Tournev I; Urtizberea J A; Merlini L; Butinar D; Chabrol B; Voit T; Baethmann M; Nedkova V; Corches A; Kalaydjieva L
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Neuromuscular disorders : NMD 2000;10(8):584-91.
2000: Villanova M; Mercuri E; Bertini E; Sabatelli P; Morandi L; Mora M; Sewry C; Brockington M; Brown S C; Ferreiro A; Maraldi N M; Toda T; Guicheney P; Merlini L; Muntoni F
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Neuromuscular disorders : NMD 2000;10(8):541-7.
2000: Lattanzi G; Muntoni F; Sabatelli P; Squarzoni S; Maraldi N M; Cenni V; Villanova M; Columbaro M; Merlini L; Marmiroli S
Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy.
Biochemical and biophysical research communications 2000;277(3):639-42.
2000: Squarzoni S; Sabatelli P; Capanni C; Petrini S; Ognibene A; Toniolo D; Cobianchi F; Zauli G; Bassini A; Baracca A; Guarnieri C; Merlini L; Maraldi N M
Emerin presence in platelets.
Acta neuropathologica 2000;100(3):291-8.
2000: Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane H M; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein E M; Eymard B; Duboc D; Penisson-Besnier I; Cuisset J M; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Annals of neurology 2000;48(2):170-80.
2000: Raffaele Di Barletta M; Ricci E; Galluzzi G; Tonali P; Mora M; Morandi L; Romorini A; Voit T; Orstavik K H; Merlini L; Trevisan C; Biancalana V; Housmanowa-Petrusewicz I; Bione S; Ricotti R; Schwartz K; Bonne G; Toniolo D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
American journal of human genetics 2000;66(4):1407-12.
2000: Macrì S; De Monte A; Greggi T; Parisini P; Zanoni A; Merlini L
Intra-operative spinal cord monitoring in orthopaedics.
Spinal cord : the official journal of the International Medical Society of Paraplegia 2000;38(3):133-9.
2000: Merlini L; Kaplan J C; Navarro C; Barois A; Bonneau D; Brasa J; Echenne B; Gallano P; Jarre L; Jeanpierre M; Kalaydjieva L; Leturcq F; Levi-Gomes A; Toutain A; Tournev I; Urtizberea A; Vallat J M; Voit T; Warter J M
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
2000: Villanova M; Caudai C; Sabatelli P; Toti P; Malandrini A; Luzi P; Maraldi N M; Valensin P E; Merlini L
Hepatitis C virus infection and myositis: a polymerase chain reaction study.
Acta neuropathologica 2000;99(3):271-6.
2000: Santorelli F M; Villanova M; Malandrini A; Grieco G S; Palmeri S; Merlini L; Casali C
Chronic diarrhea associated with the A3243G mtDNA mutation.
Neurology 2000;54(1):266-7.
1999: Viganò A; Tomba P; Merlini L
A manuscript worth a villa: Vittorio Putti's acquisition of the Guy de Chauliac manuscript.
Acta orthopaedica Scandinavica 1999;70(6):531-5.
1999: Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé F M; Guicheney P
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Vitelli F; Villanova M; Malandrini A; Bruttini M; Piccini M; Merlini L; Guazzi G; Renieri A
Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.
Muscle & nerve 1999;22(10):1437-41.
1999: King R H; Tournev I; Colomer J; Merlini L; Kalaydjieva L; Thomas P K
Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom.
Neuropathology and applied neurobiology 1999;25(4):306-12.
1999: Merlini L; Villanova M; Sabatelli P; Malandrini A; Maraldi N M
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.
Neuromuscular disorders : NMD 1999;9(5):326-9.
1999: Ognibene A; Sabatelli P; Petrini S; Squarzoni S; Riccio M; Santi S; Villanova M; Palmeri S; Merlini L; Maraldi N M
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.
Muscle & nerve 1999;22(7):864-9.
1999: Pepe G; Bertini E; Giusti B; Brunelli T; Comeglio P; Saitta B; Merlini L; Chu M L; Federici G; Abbate R
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
Neuromuscular disorders : NMD 1999;9(4):264-71.
1999: Pepe G; Giusti B; Bertini E; Brunelli T; Saitta B; Comeglio P; Bolognese A; Merlini L; Federici G; Abbate R; Chu M L
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
Biochemical and biophysical research communications 1999;258(3):802-7.
1999: Bonne G; Di Barletta M R; Varnous S; Bécane H M; Hammouda E H; Merlini L; Muntoni F; Greenberg C R; Gary F; Urtizberea J A; Duboc D; Fardeau M; Toniolo D; Schwartz K
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nature genetics 1999;21(3):285-8.
1998: Villanova M; Sabatelli P; He Y; Malandrini A; Petrini S; Maraldi N M; Merlini L
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.
Acta neuropathologica 1998;96(6):651-4.
1998: Saad F A; Merlini L; Mostacciuolo M L; Danieli G A
Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis.
American journal of medical genetics 1998;80(2):99-102.
1998: Ferlini A; Galié N; Merlini L; Sewry C; Branzi A; Muntoni F
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
American journal of human genetics 1998;63(2):436-46.
1998: Louboutin J P; Navenot J M; Villanova M; Rouger K; Merlini L; Fardeau M
X-linked vacuolated myopathy: membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S-protein.
Muscle & nerve 1998;21(7):932-5.
1998: Squarzoni S; Sabatelli P; Ognibene A; Toniolo D; Cartegni L; Cobianchi F; Petrini S; Merlini L; Maraldi N M
Immunocytochemical detection of emerin within the nuclear matrix.
Neuromuscular disorders : NMD 1998;8(5):338-44.
1998: Merlini L; Villanova M; Sabatelli P; Trogu A; Malandrini A; Yanakiev P; Maraldi N M; Kalaydjieva L
Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family.
Neuromuscular disorders : NMD 1998;8(3-4):182-5.
1998: Sabatelli P; Squarzoni S; Petrini S; Capanni C; Ognibene A; Cartegni L; Cobianchi F; Merlini L; Toniolo D; Maraldi N M
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers.
Neuromuscular disorders : NMD 1998;8(2):67-71.
1998: Kalaydjieva L; Nikolova A; Turnev I; Petrova J; Hristova A; Ishpekova B; Petkova I; Shmarov A; Stancheva S; Middleton L; Merlini L; Trogu A; Muddle J R; King R H; Thomas P K
Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
Brain : a journal of neurology 1998;121 ( Pt 3)():399-408.
1998: Guicheney P; Vignier N; Zhang X; He Y; Cruaud C; Frey V; Helbling-Leclerc A; Richard P; Estournet B; Merlini L; Topaloglu H; Mora M; Harpey J P; Haenggeli C A; Barois A; Hainque B; Schwartz K; Tomé F M; Fardeau M; Tryggvason K
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Journal of medical genetics 1998;35(3):211-7.
1998: Sangiuolo F; Botta A; Mesoraca A; Servidei S; Merlini L; Fratta G; Novelli G; Dallapiccola B
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Human mutation 1998;11(4):331.
1998: Schiavon F; Rampazzo A; Merlini L; Angelini C; Mostacciuolo M L
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
Human mutation 1998;Suppl 1():S217-9.
1997: Cartegni L; di Barletta M R; Barresi R; Squarzoni S; Sabatelli P; Maraldi N; Mora M; Di Blasi C; Cornelio F; Merlini L; Villa A; Cobianchi F; Toniolo D
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
Human molecular genetics 1997;6(13):2257-64.
1997: Marchetti C; Bianchi A; Merlini L; Tonelli P
Rigid internal fixation of the jaws in an adult patient with facio-scapulo-humeral muscular dystrophy: report of a case.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 1997;25(5):275-8.
1997: Mora M; Cartegni L; Di Blasi C; Barresi R; Bione S; Raffaele di Barletta M; Morandi L; Merlini L; Nigro V; Politano L; Donati M A; Cornelio F; Cobianchi F; Toniolo D
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
Annals of neurology 1997;42(2):249-53.
1997: Villanova M; Sewry C; Malandrini A; Toti P; Muntoni F; Merlini L; Torelli S; Tosi P; Maraldi N M; Guazzi G C
Immunolocalization of several laminin chains in the normal human central and peripheral nervous system.
Journal of submicroscopic cytology and pathology 1997;29(3):409-13.
1997: Carrié A; Piccolo F; Leturcq F; de Toma C; Azibi K; Beldjord C; Vallat J M; Merlini L; Voit T; Sewry C; Urtizberea J A; Romero N; Tomé F M; Fardeau M; Sunada Y; Campbell K P; Kaplan J C; Jeanpierre M
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics 1997;34(6):470-5.
1997: Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert J C; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé F M; Tryggvason K; Fardeau M
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Neuromuscular disorders : NMD 1997;7(3):180-6.
1997: Eymard B; Romero N B; Leturcq F; Piccolo F; Carrié A; Jeanpierre M; Collin H; Deburgrave N; Azibi K; Chaouch M; Merlini L; Thémar-Noël C; Penisson I; Mayer M; Tanguy O; Campbell K P; Kaplan J C; Tomé F M; Fardeau M
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology 1997;48(5):1227-34.
1997: Richard I; Brenguier L; Dinçer P; Roudaut C; Bady B; Burgunder J M; Chemaly R; Garcia C A; Halaby G; Jackson C E; Kurnit D M; Lefranc G; Legum C; Loiselet J; Merlini L; Nivelon-Chevallier A; Ollagnon-Roman E; Restagno G; Topaloglu H; Beckmann J S
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
American journal of human genetics 1997;60(5):1128-38.
1997: Squarzoni S; Villanova M; Sabatelli P; Malandrini A; Toti P; Pini A; Merlini L; Guazzi G C; Maraldi N M
Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects.
Neuromuscular disorders : NMD 1997;7(2):91-8.
1996: Jeanpierre M; Carrié A; Piccolo F; Leturcq F; Azibi K; De Toma C; Beldjord C; Merlini L; Voit T; Romero N; Sunada Y; Tomé F M; Fardeau M; Campbell K P; Kaplan J C
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
1996: Beckmann J S; Richard I; Broux O; Fougerousse F; Allamand V; Chiannilkulchai N; Lim L E; Duclos F; Bourg N; Brenguier L; Pasturaud P; Quétier F; Roudaut C; Sunada Y; Meyer J; Dinçer P; Lefranc G; Merlini L; Topaloglu H; Tomé F M; Cohen D; Jackson C E; Campbell K P; Fardeau M
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
1996: Piccolo F; Jeanpierre M; Leturcq F; Dodé C; Azibi K; Toutain A; Merlini L; Jarre L; Navarro C; Krishnamoorthy R; Tomé F M; Urtizberea J A; Beckmann J S; Campbell K P; Kaplan J C
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.
Human molecular genetics 1996;5(12):2019-22.
1996: Capon F; Levato C; Merlini L; Angelini C; Mostacciuolo M L; Politano L; Novelli G; Dallapiccola B
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.
Neuromuscular disorders : NMD 1996;6(4):261-4.
1996: Pini A; Merlini L; Tomé F M; Chevallay M; Gobbi G
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.
Brain & development 1996;18(4):316-22.
1996: Restagno G; Romero N; Richard I; Beckmann J S; Pagliano M; Ferrone M; Carbonara A; Merlini L
Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.
Neuromuscular disorders : NMD 1996;6(3):173-6.
1996: Capon F; Levato C; Semprini S; Pizzuti A; Merlini L; Novelli G; Dallapiccola B
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.
Muscle & nerve 1996;19(3):378-80.
1996: Jung D; Leturcq F; Sunada Y; Duclos F; Tomé F M; Moomaw C; Merlini L; Azibi K; Chaouch M; Slaughter C; Fardeau M; Kaplan J C; Campbell K P
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
FEBS letters 1996;381(1-2):15-20.
1996: Granata C; Merlini L; Cervellati S; Ballestrazzi A; Giannini S; Corbascio M; Lari S
Long-term results of spine surgery in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(1):61-8.
1996: Bedogni G; Merlini L; Ballestrazzi A; Severi S; Battistini N
Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(1):55-60.
1995: Bungaro P; Rollo G; Sabato C; Merlini L; Zinghi G F
Lesions of the sciatic nerve in fractures of the acetabulum.
La Chirurgia degli organi di movimento 1995;80(4):391-7.
1995: Bione S; Small K; Aksmanovic V M; D'Urso M; Ciccodicola A; Merlini L; Morandi L; Kress W; Yates J R; Warren S T
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
Human molecular genetics 1995;4(10):1859-63.
1995: Gennarelli M; Lucarelli M; Capon F; Pizzuti A; Merlini L; Angelini C; Novelli G; Dallapiccola B
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
Biochemical and biophysical research communications 1995;213(1):342-8.
1995: Merlini L; Dell'Accio D; Granata C
Reliability of dynamic strength knee muscle testing in children.
The Journal of orthopaedic and sports physical therapy 1995;22(2):73-6.
1995: Ferlini A; Patrosso M C; Guidetti D; Merlini L; Uncini A; Ragno M; Plasmati R; Fini S; Repetto M; Vezzoni P
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.
American journal of medical genetics 1995;55(1):105-11.
1994: Schiavon F; Mostacciuolo M L; Saad F; Merlini L; Siciliano G; Angelini C; Danieli G A
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
Journal of medical genetics 1994;31(11):880-3.
1994: Mora M; Morandi L; Merlini L; Vita G; Baradello A; Barresi R; Di Blasi C; Blasevich F; Gebbia M; Daniel S
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.
Muscle & nerve 1994;17(10):1176-84.
1994: Merlini L; Morandi L; Granata C; Ballestrazzi A
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families.
Neuromuscular disorders : NMD 1994;4(5-6):503-11.
1994: Granata C; Giannini S; Ballestrazzi A; Merlini L
Early surgery in Duchenne muscular dystrophy. Experience at Istituto Ortopedico Rizzoli, Bologna, Italy.
Neuromuscular disorders : NMD 1994;4(1):87-8.
1994: Merlini L
Calf myopathy with a twist.
Neuromuscular disorders : NMD 1994;4(1):13-5.
1993: Granata C; Cervellati S; Ballestrazzi A; Corbascio M; Merlini L
Spine surgery in spinal muscular atrophy: long-term results.
Neuromuscular disorders : NMD 1993;3(3):207-15.
1992: Saad F A; Vitiello L; Merlini L; Mostacciuolo M L; Oliviero S; Danieli G A
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.
Human molecular genetics 1992;1(5):345-6.
1992: Cole C G; Abbs S J; Dubowitz V; Hodgson S V; Warner J; Merlini L; Bobrow M
Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.
Neuromuscular disorders : NMD 1992;2(1):51-7.
1992: Merlini L; Dell'Accio D; Holzl A; Granata C
Isokinetic muscle testing (IMT) in neuromuscular diseases. Preliminary report.
Neuromuscular disorders : NMD 1992;2(3):201-7.
1992: Merlini L; Stagni S B; Marri E; Granata C
Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy.
Neuromuscular disorders : NMD 1992;2(3):197-200.
1991: Granata C; Giannini S; Villa D; Bonfiglioli Stagni S; Merlini L
Fractures in myopathies.
La Chirurgia degli organi di movimento 1991;76(1):39-45.
1990: Merlini L; Granata C
Rehabilitation of children with muscle disease.
Current opinion in neurology and neurosurgery 1990;3(5):738-41.
1990: Granata C; Magni E; Merlini L; Cervellati S
Hip dislocation in spinal muscular atrophy.
La Chirurgia degli organi di movimento 1990;75(2):177-84.
1989: Merlini L; Granata C; Ballestrazzi A; Marini M L
Rigid spine syndrome and rigid spine sign in myopathies.
Journal of child neurology 1989;4(4):274-82.
1989: Merlini L; Granata C; Bonfiglioli S; Marini M L; Cervellati S; Savini R
Scoliosis in spinal muscular atrophy: natural history and management.
Developmental medicine and child neurology 1989;31(4):501-8.
1989: Granata C; Merlini L; Magni E; Marini M L; Stagni S B
Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis.
Spine 1989;14(7):760-2.
1989: Merlini L; Granata C; Albisinni U; Marini M L; Giannini S; Dominici G
Severe cervical stenosis due to ossification of the posterior longitudinal ligament without neurological manifestations ("silent OPLL").
Italian journal of neurological sciences 1989;10(1):93-6.
1988: Merlini L; Granata C; Ballestrazzi A; Cornelio F; Tassoni P; Tugnoli S; Cacciari E
Growth hormone evaluation in Duchenne muscular dystrophy.
Italian journal of neurological sciences 1988;9(5):471-5.
1988: Granata C; Giannini S; Rubbini L; Corbascio M; Bonfiglioli S; Sabattini L; Merlini L
[Orthopedic surgery to prolong walking in Duchenne muscular dystrophy]
La Chirurgia degli organi di movimento 1988;73(3):237-48.
1988: Albisinni U; Chianura G; Merlini L; Calzolari S; Othsuka K; Terayama K
[Ossification of the posterior longitudinal ligament of the lumbar spine]
La Radiologia medica 1988;75(5):482-5.
1987: Terayama K; Ohtsuka K; Merlini L; Albisinni U; Gui L
Ossification of the spinal ligament. A radiographic reevaluation in Bologna, Italy.
Nippon Seikeigeka Gakkai zasshi 1987;61(12):1373-8.
1987: Pinelli G; Dominici P; Merlini L; Di Pasquale G; Granata C; Bonfiglioli S
[Cardiologic evaluation in a family with Emery-Dreifuss muscular dystrophy]
Giornale italiano di cardiologia 1987;17(7):589-93.
1987: Granata C; Calderara A; Uvietta D; Ravanello R; Bonfiglioli S; Merlini L
[Neuromuscular diseases at the local Central-South Medical Unit of Bolzano: orthopedic aspects]
La Chirurgia degli organi di movimento 1987;72(2):153-8.
1987: Granata C; Cornelio F; Bonfiglioli S; Mattutini P; Merlini L
Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses.
Developmental medicine and child neurology 1987;29(2):221-4.
1987: Merlini L; Mattutini P; Bonfiglioli S; Granata C
Non-progressive central core disease with severe congenital scoliosis: a case report.
Developmental medicine and child neurology 1987;29(1):106-9.
1987: Tosti A; Albisinni U; Bettoli V; Merlini L; Lama L
Ossification of the posterior longitudinal ligament associated with etretinate therapy.
Dermatologica 1987;175(5):257-8.
1986: Hodgson S; Boswinkel E; Cole C; Walker A; Dubowitz V; Granata C; Merlini L; Bobrow M
A linkage study of Emery-Dreifuss muscular dystrophy.
Human genetics 1986;74(4):409-16.
1986: Merlini L; Granata C; Dominici P; Bonfiglioli S
Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.
Muscle & nerve 1986;9(6):481-5.
1986: Toni A; Merlini L; Sudanese A; Baldini N; Granata C
[Thoraco-scapular arthrodesis in facioscapulohumeral dystrophy]
La Chirurgia degli organi di movimento 1986;71(2):127-31.
1986: Merlini L; Albisinni U; Savini R
Case report 384: Paraparesis from cauda equina compression due to disc herniation of L4-L5, in a patient with ossification of the posterior longitudinal ligament (OPLL) at L4-L5 and C4-C5.
Skeletal radiology 1986;15(6):488-91.
1985: Lipparini M; Sartoni Galloni S; Gervasio M; Merlini L; Bonfiglioli S; Cattozzo M; Granata C
[Echography of neuromuscular diseases]
La Chirurgia degli organi di movimento 1985;70(4):331-6.
1985: Albisinni U; Merlini L; Terayama K; Ohtsuka K; Savini R
[X-ray epidemiology of ligaments ossifications and disc degeneration of the cervical spine]
La Chirurgia degli organi di movimento 1985;70(1):15-22.
1984: Merlini L; Granata C; Bonfiglioli S; Mattutini P
[Humeral-peroneal muscular dystrophy with cardiomyopathy and sex-linked recessive heredity (Emery-Dreifuss). Description of a case with orthopedic problems]
La Chirurgia degli organi di movimento 1984;69(3):291-5.
1983: Gui L; Merlini L; Savini R; Davidovits P
Cervical myelopathy due to ossification of the posterior longitudinal ligament.
Italian journal of orthopaedics and traumatology 1983;9(3):269-80.
1983: Gui L; Davidovits P; Merlini L; Savini R
Cervical myelopathy. Technique and results of spinal cord decompression by lateral laminectomy.
Italian journal of orthopaedics and traumatology 1983;9(2):129-38.
1982: Gui L; Savini R; Martucci E; Merlini L
Diagnosis and treatment of cervical instability.
Italian journal of orthopaedics and traumatology 1982;8(2):131-44.
1981: Merlini L; Granata C; Prosperi P; Prosperi L
[Intermittent claudication and priapism as a result of compression of the cauda equina caused by lumbar stenosis. Description of a case]
La Chirurgia degli organi di movimento 1981;67(2):235-8.
1981: Lucci B; Govoni E; Bragaglia M M; Busachi C A; Badiali de Giorgi L; Trotta F; Merlini L
[Technics for studying muscle biopsies from polymyositis patients]
Rivista di neurobiologia : organo ufficiale della Società dei neurologi, neuroradiologi e neurochirurghi ospedalieri 1981;27(1):57-67.
1980: Merlini L; Donati U
Auto-immunity and intervertebral disc disease.
Italian journal of orthopaedics and traumatology 1980;6(3):427-32.
1980: Perricone G; Granata C; Merlini L
[Proprioceptive neuromuscular facilitation in paralysis of the anterior serratus]
La Chirurgia degli organi di movimento 1980;66(6):775-7.
1980: Calderoni P; Cervellati C; Merlini L; Bacci G
[Solitary osseous "non-secreting" plasmacytoma associated with diffuse polyradiculoneuritis. Description of a case]
La Chirurgia degli organi di movimento 1980;66(5):441-5.
1979: Gui L; Merlini L; Savini R
[Extended hemilaminectomy operation in the treatment of cervical myelopathy]
Rivista di neurobiologia : organo ufficiale della Società dei neurologi, neuroradiologi e neurochirurghi ospedalieri 1979;25(4):457-67.
1979: Merlini L; Gualtieri I; Pellacci F; Capelli A
[Syndrome caused by entrapment of the anterior interosseous nerve. Description of 2 cases]
Rivista di neurobiologia : organo ufficiale della Società dei neurologi, neuroradiologi e neurochirurghi ospedalieri 1979;25(3):325-31.
1979: Capelli A; Merlini L; Gualtieri I; Bazzocchi P; Gualdrini G
[Saccoradioculography and lumbar disk hernia]
La Chirurgia degli organi di movimento 1979;65(2):203-7.
1978: Costa C; Gualtieri G; Merlini L
[Electromyographic findings in congenital clubfoot]
La Chirurgia degli organi di movimento 1978;64(4):415-7.
1978: Catizone L; Merlini L; Fusaroli M
[Peripheral neuropathy of uremic patients on periodic hemodialysis: clinical and electrophysiological response to treatment with cerebral cortex gangliosides]
La Clinica terapeutica 1978;85(4):395-408.
1978: Gualtieri I; Padovani G; Capelli A; Merlini L
[A case of sciatic nerve neurinoma]
La Chirurgia degli organi di movimento 1978;64(2):245-7.
1978: Catizone L; Merlini L; Fusaroli M
[Peripheral neuropathy in the uremic patient during periodic hemodialysis: clinical and electrophysiologic response to treatment with cerebral cortical gangliosides]
Rivista di neurobiologia : organo ufficiale della Società dei neurologi, neuroradiologi e neurochirurghi ospedalieri 1978;24(1-2):43-56.
1977: Merlini L; Gusella A; Granata C; Montefusco E; Arlecchini S
[Paralysis of the serratus magnus (apropos of 7 cases)]
La Chirurgia degli organi di movimento 1977;63(4):361-4.
1977: Gualtieri G; Merlini L; Pellacci F
[The anterior interosseous nerve syndrome (description of a case)]
La Chirurgia degli organi di movimento 1977;63(6):657-61.
1977: Bachiocco R; Merlini L; Pellacci F
[Postmyelographic arachnoiditis (report of a case)]
La Chirurgia degli organi di movimento 1977;63(6):651-5.
1976: Merlini L; Gualtieri G; Arlecchini S; Gualtieri I
[Isolated paralysis of the accessory spinal nerve of spontaneous origin. Clinical and electromyographic study of 2 cases]
La Chirurgia degli organi di movimento 1976;63(3):245-8.
1976: Arlecchini S; Gualtieri G; Gualtieri I; Maggi G; Merlini L
[Intraspinal epidermoid cyst]
La Chirurgia degli organi di movimento 1976;63(3):213-8.
1976: Arlecchini S; Claudio M C; Maggi G; Merlini L
[A case of isolated paralysis of the serratus magnus muscle]
La Chirurgia degli organi di movimento 1976;63(1):49-53.
1975: Merlini L; Gualtieri I; Gualtieri G
[Congenital multiple arthrogryposis. Clinical and electromyographic data]
La Chirurgia degli organi di movimento 1975;62(3):347-50.
1970: De Lutterotti A; Mezzena R; Cardinale N; Merlini L
[The Achilles reflexogram: values in 369 healthy young women]
Minerva medica 1970;61(85):4771-6.

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