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2000

Apoptotic features accompany acute quadriplegic myopathy

Di Giovanni, S., Mirabella, M., D'Amico, A., Tonali, P. & Servidei, S., Sep 26 2000, In : Neurology. 55, 6, p. 854-858 5 p.

Research output: Contribution to journalArticle

2002

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A. & Mirabella, M., Dec 10 2002, In : Neurology. 59, 11, p. 1808-1809 2 p.

Research output: Contribution to journalArticle

2003

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions

Odoardi, F., Rana, M., Broccolini, A., Mirabella, M., Modoni, A., D'Amico, A., Papacci, M., Tonali, P., Servidei, S. & Silvestri, G., Apr 30 2003, In : American Journal of Medical Genetics. 118 A, 3, p. 247-254 8 p.

Research output: Contribution to journalArticle

Pure unilateral hyperhidrosis after pontine infarct

Pellecchia, M. T., Criscuolo, C., De Joanna, G., D'Amico, A., Santoro, L. & Barone, P., Nov 11 2003, In : Neurology. 61, 9, p. 1305 1 p.

Research output: Contribution to journalArticle

2004

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

Guenther, U. P., Schuelke, M., Bertini, E., D'Amico, A., Goemans, N., Grohmann, K., Hübner, C. & Varon, R., Sep 2004, In : Human Genetics. 115, 4, p. 319-326 8 p.

Research output: Contribution to journalArticle

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

D'Amico, A., Tessa, A., Sabino, A., Bertini, E., Santorelli, F. M. & Servidei, S., Jun 8 2004, In : Neurology. 62, 11, p. 2138-2139 2 p.

Research output: Contribution to journalArticle

Insulin-like growth factor I in inclusion-body myositis and human muscle cultures

Broccolini, A., Ricci, E., Pescatori, M., Papacci, M., Gliubizzi, C., D'Amico, A., Servidei, S., Tonali, P. & Mirabella, M., Jun 2004, In : Journal of Neuropathology and Experimental Neurology. 63, 6, p. 650-659 10 p.

Research output: Contribution to journalArticle

Pilot trial of phenylbutyrate in spinal muscular atrophy

Mercuri, E., Bertini, E., Messina, S., Pelliccioni, M., D'Amico, A., Colitto, F., Mirabella, M., Tiziano, F. D., Vitali, T., Angelozzi, C., Kinali, M., Main, M. & Brahe, C., Feb 2004, In : Neuromuscular Disorders. 14, 2, p. 130-135 6 p.

Research output: Contribution to journalArticle

2005

Acute quadriplegic myopathy in a 16-month-old child

Iodice, F., Salzano, M., Prosperi, M., D'Amico, A., Lauri, A. & Bertini, E., 2005, In : Paediatric Anaesthesia. 15, 7, p. 611-615 5 p.

Research output: Contribution to journalArticle

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene

D'Amico, A., Benedetti, S., Petrini, S., Sambuughin, N., Boldrini, R., Menditto, I., Ferrari, M., Verardo, M., Goldfarb, L. & Bertini, E., Dec 2005, In : Neuromuscular Disorders. 15, 12, p. 847-850 4 p.

Research output: Contribution to journalArticle

Phenotypic heterogeneity in two unrelated danon patients associated with the same LAMP-2 gene mutation

Bertini, E., Donati, M. A., Broda, P., Cassandrini, D., Petrini, S., Dionisi-Vici, C., Ballerini, L., Boldrini, R., D'Amico, A., Pasquini, E., Minetti, C., Santorelli, F. M. & Bruno, C., Oct 2005, In : Neuropediatrics. 36, 5, p. 309-313 5 p.

Research output: Contribution to journalArticle

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Pellecchia, M. T., Valente, E. M., Cif, L., Salvi, S., Albanese, A., Scarano, V., Bonuccelli, U., Bentivoglio, A. R., D'Amico, A., Marelli, C., Di Giorgio, A., Coubes, P., Barone, P. & Dallapiccola, B., May 24 2005, In : Neurology. 64, 10, p. 1810-1812 3 p.

Research output: Contribution to journalArticle

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

D'Amico, A., Haliloglu, G., Richard, P., Talim, B., Maugenre, S., Ferreiro, A., Guicheney, P., Menditto, I., Benedetti, S., Bertini, E., Bonne, G. & Topaloglu, H., Aug 2005, In : Neuromuscular Disorders. 15, 8, p. 521-524 4 p.

Research output: Contribution to journalArticle

2006

Expanding the clinical spectrum of POMT1 phenotype

D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M. & Bertini, E., May 2006, In : Neurology. 66, 10, p. 1564-1567 4 p.

Research output: Contribution to journalArticle

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

D'Amico, A., Graziano, C., Pacileo, G., Petrini, S., Nowak, K. J., Boldrini, R., Jacques, A., Feng, J. J., Porfirio, B., Sewry, C. A., Santorelli, F. M., Limongelli, G., Bertini, E., Laing, N. & Marston, S. B., Oct 2006, In : Neuromuscular Disorders. 16, 9-10, p. 548-552 5 p.

Research output: Contribution to journalArticle

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria

Di Rosa, G., Deodato, F., Loupatty, F. J., Rizzo, C., Carrozzo, R., Santorelli, F. M., Boenzi, S., D'Amico, A., Tozzi, G., Bertini, E., Maiorana, A., Wanders, R. J. A. & Dionisi-Vici, C., Aug 2006, In : Journal of Inherited Metabolic Disease. 29, 4, p. 546-550 5 p.

Research output: Contribution to journalArticle

POMGnT1 mutations in congenital muscular dystrophy: Genotype-phenotype correlation and expanded clinical spectrum

Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F. M., Minetti, C. & Bruno, C., 2006, In : Archives of Neurology. 63, 10, p. 1491-1495 5 p.

Research output: Contribution to journalArticle

POMT2 mutation in a patient with 'MEB-like' phenotype

Mercuri, E., D'Amico, A., Tessa, A., Berardinelli, A., Pane, M., Messina, S., van Reeuwijk, J., Bertini, E., Muntoni, F. & Santorelli, F. M., Jul 2006, In : Neuromuscular Disorders. 16, 7, p. 446-448 3 p.

Research output: Contribution to journalArticle

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Mercuri, E., Messina, S., Battini, R., Berardinelli, A., Boffi, P., Bono, R., Bruno, C., Carboni, N., Cini, C., Colitto, F., D'Amico, A., Minetti, C., Mirabella, M., Mongini, T., Morandi, L., Dlamini, N., Orcesi, S., Pelliccioni, M., Pane, M., Pini, A. & 6 others, Swan, A. V., Villanova, M., Vita, G., Main, M., Muntoni, F. & Bertini, E., Feb 2006, In : Neuromuscular Disorders. 16, 2, p. 93-98 6 p.

Research output: Contribution to journalArticle

2007

Gene expression profiling in the early phases of DMD: A constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Pescatori, M., Broccolini, A., Minetti, C., Bertini, E., Bruno, C., D'Amico, A., Bernardini, C., Mirabella, M., Silvestri, G., Giglio, V., Modoni, A., Pedemonte, M., Tasca, G., Galluzzi, G., Mercuri, E., Tonali, P. A. & Ricci, E., Apr 2007, In : FASEB Journal. 21, 4, p. 1210-1226 17 p.

Research output: Contribution to journalArticle

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Zhou, H., Jungbluth, H., Sewry, C. A., Feng, L., Bertini, E., Bushby, K., Straub, V., Roper, H., Rose, M. R., Brockington, M., Kinali, M., Manzur, A., Robb, S., Appleton, R., Messina, S., D'Amico, A., Quinlivan, R., Swash, M., Müller, C. R., Brown, S. & 2 others, Treves, S. & Muntoni, F., Aug 2007, In : Brain. 130, 8, p. 2024-2036 13 p.

Research output: Contribution to journalArticle

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Danhaive, O., Lozzi, S., D'amico, A., Devito, R., Boldrini, R., Corchia, C., Bagolan, P. & Bertini, E., Jul 2007, In : Journal of Pediatric Surgery. 42, 7

Research output: Contribution to journalArticle

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

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. & 7 others, Mammì, I., Carrera, P., Toniolo, D., Comi, G., Quattrini, A., Ferrari, M. & Previtali, S. C., Sep 2007, In : Neurology. 69, 12, p. 1285-1292 8 p.

Research output: Contribution to journalArticle

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Mercuri, E., Bertini, E., Messina, S., Solari, A., D'Amico, A., Angelozzi, C., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Colitto, F., Kinali, M., Minetti, C., Mongini, T., Morandi, L., Neri, G., Orcesi, S., Pane, M., Pelliccioni, M. & 5 others, Pini, A., Tiziano, F. D., Villanova, M., Vita, G. & Brahe, C., Jan 2007, In : Neurology. 68, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

Tiziano, F. D., Bertini, E., Messina, S., Angelozzi, C., Pane, M., D'Amico, A., Alfieri, P., Fiori, S., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Minetti, C., Mongini, T., Morandi, L., Orcesi, S., Pelliccioni, M., Pini, A., Villanova, M. & 4 others, Vita, G., Locatelli, M., Mercuri, E. & Brahe, C., May 2007, In : Neuromuscular Disorders. 17, 5, p. 400-403 4 p.

Research output: Contribution to journalArticle

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

Petrini, S., D'Amico, A., Sale, P., Lucarini, L., Sabatelli, P., Tessa, A., Giusti, B., Verardo, M., Carrozzo, R., Mattioli, E., Scarpelli, M., Chu, M. L., Pepe, G., Russo, M. A. & Bertini, E., Aug 2007, In : Neuromuscular Disorders. 17, 8, p. 587-596 10 p.

Research output: Contribution to journalArticle

2008

Clinical and genetic characterization of Chanarin-Dorfman syndrome

Bruno, C., Bertini, E., Di Rocco, M., Cassandrini, D., Ruffa, G., De Toni, T., Seri, M., Spada, M., Li Volti, G., D'Amico, A., Trucco, F., Arca, M., Casali, C., Angelini, C., DiMauro, S. & Minetti, C., May 16 2008, In : Biochemical and Biophysical Research Communications. 369, 4, p. 1125-1128 4 p.

Research output: Contribution to journalArticle

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Mihaylova, V., Müller, J. S., Vilchez, J. J., Salih, M. A., Kabiraj, M. M., D'Amico, A., Bertini, E., Wölfle, J., Schreiner, F., Kurlemann, G., Rasic, V. M., Siskova, D., Colomer, J., Herczegfalvi, A., Fabriciova, K., Weschke, B., Scola, R., Hoellen, F., Schara, U., Abicht, A. & 1 others, Lochmüller, H., Mar 2008, In : Brain. 131, 3, p. 747-759 13 p.

Research output: Contribution to journalArticle

Clinical factors as predictors of survival in spinal muscular atrophy type I

D'Amico, A., Cuttini, M., Ravà, L., Mercuri, E., Messina, S., Pane, M., Mastella, C., Chiarini-Testa, M. B., Brahe, C., Tiziano, D., Vita, G. & Bertini, E., Oct 2008, In : Paediatrics and Child Health. 18, SUPPL. 1

Research output: Contribution to journalArticle

Congenital myopathies

D'Amico, A. & Bertini, E., Jan 2008, In : Current Neurology and Neuroscience Reports. 8, 1, p. 73-79 7 p.

Research output: Contribution to journalArticle

Daily salbutamol in young patients with SMA type II

Pane, M., Staccioli, S., Messina, S., D'Amico, A., Pelliccioni, M., Mazzone, E. S., Cuttini, M., Alfieri, P., Battini, R., Main, M., Muntoni, F., Bertini, E., Villanova, M. & Mercuri, E., Jul 2008, In : Neuromuscular Disorders. 18, 7, p. 536-540 5 p.

Research output: Contribution to journalArticle

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Quijano-Roy, S., Mbieleu, B., Bönnemann, C. G., Jeannet, P. Y., Colomer, J., Clarke, N. F., Cuisset, J. M., Roper, H., De Meirleir, L., D'Amico, A., Yaou, R. B., Nascimento, A., Barois, A., Demay, L., Bertini, E., Ferreiro, A., Sewry, C. A., Romero, N. B., Ryan, M., Muntoni, F. & 4 others, Guicheney, P., Richard, P., Bonne, G. & Estournet, B., Aug 2008, In : Annals of Neurology. 64, 2, p. 177-186 10 p.

Research output: Contribution to journalArticle

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis, M. G., Donnarumma, M., Montalvo, A. L., Dominissini, S., Kroos, M., Rosano, C., Stroppiano, M., Bianco, M. G., Donati, M. A., Parenti, G., D'Amico, A., Ciana, G., Di Rocco, M., Reuser, A., Bembi, B. & Filocamo, M., Jun 2008, In : Human Mutation. 29, 6

Research output: Contribution to journalArticle

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

Messina, S., Mora, M., Pegoraro, E., Pini, A., Mongini, T., D'Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., Farina, L., Morandi, L., Moroni, I., Pezzani, R., Pichiecchio, A., Ricci, E., Ruggieri, A., Saredi, S. & 9 others, Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C. P., Uggetti, C., Santorelli, F. M., Bertini, E. & Mercuri, E., Jul 2008, In : Neuromuscular Disorders. 18, 7, p. 565-571 7 p.

Research output: Contribution to journalArticle

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

Traverso, M., Bruno, C., Broccolini, A., Sotgia, F., Donati, M. A., Assereto, S., Gazzerro, E., Lo Monaco, M., Modoni, A., D'Amico, A., Gasperini, S., Ricci, E., Zara, F., Lisanti, M. & Minetti, C., Jun 2008, In : Journal of Neurology, Neurosurgery and Psychiatry. 79, 6, p. 735-737 3 p.

Research output: Contribution to journalArticle

2009

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Laverda, A., Moggio, M., Morandi, L., Moroni, I., Pane, M., Pezzani, R., Pichiecchio, A., Pini, A. & 15 others, Minetti, C., Mongini, T., Mottarelli, E., Ricci, E., Ruggieri, A., Saredi, S., Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C. P., Uggetti, C., Vasco, G., Santorelli, F. M. & Bertini, E., May 26 2009, In : Neurology. 72, 21, p. 1802-1809 8 p.

Research output: Contribution to journalArticle

Congenital muscular dystrophy with defective α-dystroglycan, cerebellar hypoplasia, and epilepsy

Messina, S., Tortorella, G., Concolino, D., Spanò, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E. & Bertini, E., Nov 2009, In : Neurology. 73, 19, p. 1599-1601 3 p.

Research output: Contribution to journalArticle

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

Martoni, E., Urciuolo, A., Sabatelli, P., Fabris, M., Bovolenta, M., Neri, M., Grumati, P., D'Amico, A., Pane, M., Mercuri, E., Bertini, E., Merlini, L., Bonaldo, P., Ferlini, A. & Gualandi, F., May 2009, In : Human Mutation. 30, 5

Research output: Contribution to journalArticle

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations

Fancello, T., Dardis, A., Rosano, C., Tarugi, P., Tappino, B., Zampieri, S., Pinotti, E., Corsolini, F., Fecarotta, S., D'Amico, A., Di Rocco, M., Uziel, G., Calandra, S., Bembi, B. & Filocamo, M., Jul 2009, In : Neurogenetics. 10, 3, p. 229-239 11 p.

Research output: Contribution to journalArticle

Reliability of the North Star Ambulatory Assessment in a multicentric setting

Mazzone, E. S., Messina, S., Vasco, G., Main, M., Eagle, M., D'Amico, A., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Magri, F., Corlatti, A., Zucchini, E., Brancalion, B., Rossi, F., Ferretti, M., Motta, M. G., Cecio, M. R., Berardinelli, A. & 16 others, Alfieri, P., Mongini, T., Pini, A., Astrea, G., Battini, R., Comi, G., Pegoraro, E., Morandi, L., Pane, M., Angelini, C., Bruno, C., Villanova, M., Vita, G., Donati, M. A., Bertini, E. & Mercuri, E., Jul 2009, In : Neuromuscular Disorders. 19, 7, p. 458-461 4 p.

Research output: Contribution to journalArticle

2010

Congenital muscular dystrophies with cognitive impairment: A population study

Messina, S., Bruno, C., Moroni, I., Pegoraro, E., D'Amico, A., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Farina, L., Minetti, C., Moggio, M., Mongini, T., Mottarelli, E., Pane, M., Pantaleoni, C., Pichiecchio, A., Pini, A., Ricci, E., Saredi, S. & 10 others, Sframeli, M., Tortorella, G., Toscano, A., Trevisan, C. P., Uggetti, C., Vasco, G., Comi, G. P., Santorelli, F. M., Bertini, E. & Mercuri, E., Sep 7 2010, In : Neurology. 75, 10, p. 898-903 6 p.

Research output: Contribution to journalArticle

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Odgerel, Z., Sarkozy, A., Lee, H. S., McKenna, C., Rankin, J., Straub, V., Lochmüller, H., Paola, F., D'Amico, A., Bertini, E., Bushby, K. & Goldfarb, L. G., Jul 2010, In : Neuromuscular Disorders. 20, 7, p. 438-442 5 p.

Research output: Contribution to journalArticle

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Mazzone, E., Martinelli, D., Berardinelli, A., Messina, S., D'Amico, A., Vasco, G., Main, M., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Carlesi, A., Bonetti, A. M., Zucchini, E., Sanctis, R. D., Scutifero, M., Bianco, F., Rossi, F., Motta, M. C. & 13 others, Sacco, A., Donati, M. A., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Pane, M., Pasquini, E., Bruno, C., Vita, G., Waure, C. D., Bertini, E. & Mercuri, E., Nov 2010, In : Neuromuscular Disorders. 20, 11, p. 712-716 5 p.

Research output: Contribution to journalArticle

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design

Tiziano, F. D., Lomastro, R., Pinto, A. M., Messina, S., D'Amico, A., Fiori, S., Angelozzi, C., Pane, M., Mercuri, E., Bertini, E., Neri, G. & Brahe, C., Dec 2010, In : Journal of Medical Genetics. 47, 12, p. 856-858 3 p.

Research output: Contribution to journalArticle

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Tiziano, F. D., Pinto, A. M., Fiori, S., Lomastro, R., Messina, S., Bruno, C., Pini, A., Pane, M., D'Amico, A., Ghezzo, A., Bertini, E., Mercuri, E., Neri, G. & Brahe, C., Jan 2010, In : European Journal of Human Genetics. 18, 1, p. 52-58 7 p.

Research output: Contribution to journalArticle

2011

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

Di Rosa, G., Messina, S., D'Amico, A., Bertini, E., Pustorino, G., Spanò, M. & Tortorella, G., Sep 2011, In : Epileptic Disorders. 13, 3, p. 259-262 4 p.

Research output: Contribution to journalArticle

Congenital Muscular Dystrophies: A Brief Review

Bertini, E., D'Amico, A., Gualandi, F. & Petrini, S., Dec 2011, In : Seminars in Pediatric Neurology. 18, 4, p. 277-288 12 p.

Research output: Contribution to journalArticle

Functional changes in Duchenne muscular dystrophy

Mazzone, E., Vasco, G., Sormani, M. P., Torrente, Y., Berardinelli, A., Messina, S., D'Amico, A., Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., Zucchini, E., De Sanctis, R., Scutifero, M., Bianco, F., Rossi, F., Motta, M. C., Sacco, A. & 15 others, Donati, M. A., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Pane, M., Gasperini, S., Previtali, S., Napolitano, S., Martinelli, D., Bruno, C., Vita, G., Comi, G., Bertini, E. & Mercuri, E., Jul 19 2011, In : Neurology. 77, 3, p. 250-256 7 p.

Research output: Contribution to journalArticle