1978 …2020

Research output per year

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Research Output

118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy)

Bertini, E., Biancalana, V., Bolino, A., Buj Bello, A., Clague, M., Guicheney, P., Jungbluth, H., Kress, W., Musaro', A., Nandurkar, H., Pirola, L., Romero, N., Senderek, J., Suter, U., Sewry, C., Tronchere, H., Wallgren-Pettersson, C., Wishart, M. J. & Laporte, J., Jun 2004, In : Neuromuscular Disorders. 14, 6, p. 387-396 10 p.

Research output: Contribution to journalArticle

134th ENMC international workshop: Outcome measures and treatment of spinal muscular atrophy 11-13 February 2005 Naarden, the Netherlands

Bertini, E., Burghes, A., Bushby, K., Estournet-Mathiaud, B., Finkel, R. S., Hughes, R. A. C., Iannaccone, S. T., Melki, J., Mercuri, E., Muntoni, F., Voit, T., Reitter, B., Swoboda, K. J., Tiziano, D., Tizzano, E., Topaloglu, H., Wirth, B. & Zerres, K., Nov 2005, In : Neuromuscular Disorders. 15, 11, p. 802-816 15 p.

Research output: Contribution to journalArticle

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands

Finkel, R., Bertini, E., Muntoni, F. & Mercuri, E., Jul 1 2015, In : Neuromuscular Disorders. 25, 7, p. 593-602 10 p.

Research output: Contribution to journalArticle

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

Mazzone, E. S., Pane, M., Sormani, M. P., Scalise, R., Berardinelli, A., Messina, S., Torrente, Y., D'Amico, A., Doglio, L., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., de Sanctis, R., Rolle, E., Bianco, F., Magri, F., Rossi, F. & 16 others, Vasco, G., Vita, G. L., Motta, M. C., Donati, M. A., Sacchini, M., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E. & Mercuri, E., Jan 17 2013, In : PLoS One. 8, 1, e52512.

Research output: Contribution to journalArticle

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes

Pane, M., Mazzone, E. S., Sormani, M. P., Messina, S., Vita, G. L., Fanelli, L., Berardinelli, A., Torrente, Y., D'Amico, A., Lanzillotta, V., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., Scalise, R., De Sanctis, R., Rolle, E., Bianco, F. & 24 others, Van Der Haawue, M., Magri, F., Palermo, C., Rossi, F., Donati, M. A., Alfonsi, C., Sacchini, M., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S. C., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E., Morandi, L., Gualandi, F., Ferlini, A., Goemans, N. & Mercuri, E., Jan 8 2014, In : PLoS One. 9, 1, e83400.

Research output: Contribution to journalArticle

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE26-28th October, 2001, Naarden, The Netherlands

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. & 1 others, Guicheney, P., Nov 2002, In : Neuromuscular Disorders. 12, 9, p. 889-896 8 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: Comparison with magnetic resonance imaging and clinical findings

Restuccia, D., Di Lazzaro, V., Valeriani, M., Oliviero, A., Le Pera, D., Barba, C., Cappa, M., Bertini, E. & Tonali, P., 1997, In : Muscle and Nerve. 20, 10, p. 1249-1257 9 p.

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Aug 10 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., 2019, In : European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

Research output: Contribution to journalArticle

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

Hartley, L., Kinali, M., Knight, R., Mercuri, E., Hubner, C., Bertini, E., Manzur, A. Y., Jimenez-Mallebrera, C., Sewry, C. A. & Muntoni, F., Feb 2007, In : Neuromuscular Disorders. 17, 2, p. 174-179 6 p.

Research output: Contribution to journalArticle

Actin Glutathionylation Increases in Fibroblasts of Patients with Friedreich's Ataxia: A potential role in the pathogenesis of the disease

Pastore, A., Tozzi, G., Gaeta, L. M., Bertini, E., Serafini, V., Di Cesare, S., Bonetto, V., Casoni, F., Carrozzo, R., Federici, G. & Piemonte, F., Oct 24 2003, In : Journal of Biological Chemistry. 278, 43, p. 42588-42595 8 p.

Research output: Contribution to journalArticle

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

Castiglioni, C., Bertini, E., Orellana, P., Villarroel, C., Las Heras, F., Hinzpeter, D., Paolinelli, P., Bevilacqua, J. A. & Alvarez, K., 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2365-2369 5 p.

Research output: Contribution to journalArticle

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Callea, M., Bellacchio, E., Fattori, F., Bertini, E., Callea, F. & Cammarata-Scalisi, F., 2016, In : Leukemia and Lymphoma. 57, 9, p. 2189-2191 3 p.

Research output: Contribution to journalArticle

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Callea, M., Bellacchio, E., Fattori, F., Bertini, E., Callea, F. & Cammarata-Scalisi, F., Dec 23 2015, (Accepted/In press) In : Leukemia and Lymphoma. p. 1-3 3 p.

Research output: Contribution to journalArticle

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

ADRENOLAUCODISTROFIA: ASPETTI CLINICI E TERAPEUTICI NELLA ESPERIENZA ITALIANA

Translated title of the contribution: Adrenoleukodystrophy: Clinical and therapeutical aspects in the Italian experienceCappa, M., Bertini, E., Cambiaso, P., Del Balzo, P., Di Capua, M., Milani, L., Bardelli, P., Rimoldi, M. & Uziel, G., 1994, In : Rivista Italiana di Pediatria. 20, 2, p. 130-137 8 p.

Research output: Contribution to journalArticle

Affinity proteomics within rare diseases: A bio-nmd study for blood biomarkers of muscular dystrophies

Ayoglu, B., Chaouch, A., Lochmüller, H., Politano, L., Bertini, E., Spitali, P., Hiller, M., Niks, E. H., Gualandi, F., Pontén, F., Bushby, K., Aartsma-Rus, A., Schwartz, E., Le Priol, Y., Straub, V., Uhlén, M., Cirak, S., 't Hoen, P. A. C., Muntoni, F., Ferlini, A. & 3 others, Schwenk, J. M., Nilsson, P. & Al-Khalili Szigyarto, C., 2014, In : EMBO Molecular Medicine. 6, 7, p. 918-936 19 p.

Research output: Contribution to journalArticle

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

Petrini, S., Borghi, R., D'Oria, V., Restaldi, F., Moreno, S., Novelli, A., Bertini, E. & Compagnucci, C., May 1 2017, In : Aging. 9, 5, p. 1453-1469 17 p.

Research output: Contribution to journalArticle

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

Masotti, A., Celluzzi, A., Petrini, S., Bertini, E., Zanni, G. & Compagnucci, C., 2014, In : Aging. 6, 12, p. 1094-1108 15 p.

Research output: Contribution to journalArticle

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q

Fouad, G. T., Servidei, S., Durcan, S., Bertini, E. & Ptacek, L. J., 1996, In : American Journal of Human Genetics. 59, 1, p. 135-139 5 p.

Research output: Contribution to journalArticle

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

Vici, C. D., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F. & Fiorilli, N. V., 1988, In : American Journal of Medical Genetics. 29, 1, p. 1-8 8 p.

Research output: Contribution to journalArticle

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the α1(VI) collagen chain in an Italian family affected by Bethlem myopathy

Pepe, G., Giusti, B., Bertini, E., Brunelli, T., Saitta, B., Comeglio, P., Bolognese, A., Merlini, L., Federici, G., Abbate, R. & Chu, M. L., May 19 1999, In : Biochemical and Biophysical Research Communications. 258, 3, p. 802-807 6 p.

Research output: Contribution to journalArticle

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Valente, E. M., Brancati, F., Silhavy, J. L., Castori, M., Marsh, S. E., Barrano, G., Bertini, E., Boltshauser, E., Zaki, M. S., Abdel-Aleem, A., Abdel-Salam, G. M. H., Bellacchio, E., Battini, R., Cruse, R. P., Dobyns, W. B., Krishnamoorthy, K. S., Lagier-Tourenne, C., Magee, A., Pascual-Castroviejo, I., Salpietro, C. D. & 3 others, Sarco, D., Dallapiccola, B. & Gleeson, J. G., Mar 2006, In : Annals of Neurology. 59, 3, p. 527-534 8 p.

Research output: Contribution to journalArticle

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Pastore, A., Ciampalini, P., Tozzi, G., Pecorelli, L., Passarelli, C., Bertini, E. & Piemonte, F., May 2012, In : Pediatric Diabetes. 13, 3, p. 272-277 6 p.

Research output: Contribution to journalArticle

Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.

Graziano, C., Bertini, E., Minetti, C. & Porfirio, B., Jun 2004, In : International Journal of Molecular Medicine. 13, 6, p. 805-809 5 p.

Research output: Contribution to journalArticle

Alterazioni neuroendocrine nell'adrenoleucodistrofia (ALD). Relazioni con le nuove strategie terapeutiche.

Translated title of the contribution: Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategiesCappa, M., Lancia, A., Cambiaso, P., Del Balzo, P., Di Capua, M., Danielli, E., Gambetti, M. & Bertini, E., Mar 1991, In : Minerva Pediatrica. 43, 3, p. 125-126 2 p.

Research output: Contribution to journalArticle

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

Petrini, S., Tessa, A., Stallcup, W. B., Sabatelli, P., Pescatori, M., Giusti, B., Carrozzo, R., Verardo, M., Bergamin, N., Columbaro, M., Bernardini, C., Merlini, L., Pepe, G., Bonaldo, P. & Bertini, E., Nov 2005, In : Molecular and Cellular Neuroscience. 30, 3, p. 408-417 10 p.

Research output: Contribution to journalArticle

An additional family carrying a new atlastin mutation

Tessa, A., Casali, C., Damiano, M., Bruno, C., Fortini, D., Patrono, C., Cricchi, F., Valoppi, M., Nappi, G., Amabile, G. A., Bertini, E. & Santorelli, F. M., Dec 24 2002, In : Neurology. 59, 12, p. 2002-2005 4 p.

Research output: Contribution to journalArticle

Analysis of glutathione: Implication in redox and detoxification

Pastore, A., Federici, G., Bertini, E. & Piemonte, F., Jul 1 2003, In : Clinica Chimica Acta. 333, 1-2, p. 19-39 21 p.

Research output: Contribution to journalArticle

Analysis of mutagenic activity in human urine after concentration on different resins and high-performance liquid chromatography

Salvadori, M., Dolara, P., Bertini, E. & Coppi, C., 1989, In : Toxicology Letters. 45, 2-3, p. 241-249 9 p.

Research output: Contribution to journalArticle

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S. & DiDonato, S., 1989, In : Nature. 339, 6222, p. 309-311 3 p.

Research output: Contribution to journalArticle

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

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Bisceglia, L., Zoccolella, S., Torraco, A., Piemontese, M. R., Dell'Aglio, R., Amati, A., De Bonis, P., Artuso, L., Copetti, M., Santorelli, F. M., Serlenga, L., Zelante, L., Bertini, E. & Petruzzella, V., Jun 2010, In : European Journal of Human Genetics. 18, 6, p. 636-641 6 p.

Research output: Contribution to journalArticle

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

Burlina, A. B., Dionisi-Vici, C., Bennett, M. J., Gibson, K. M., Servidei, S., Bertini, E., Hale, D. E., Schmidt-Sommerfeld, E., Sabetta, G., Zacchello, F. & Rinaldo, P., 1994, In : Journal of Pediatrics. 124, 1, p. 79-86 8 p.

Research output: Contribution to journalArticle

A new therapeutic approach for X-linked adrenoleukodystrophy

Cappa, M., Bertini, E., DiCapua, M., Rimoldi, M. & Uziel, G., May 1990, In : European Journal of Pediatrics. 149, 8, p. 595-596 2 p.

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

Giannotti, A., Tessa, A., Patrono, C., Florio, L. D., Velardo, M., Dionisi-Vici, C., Bertini, E. & Santorelli, F. M., Sep 2000, In : Human Mutation. 16, 3, p. 277 1 p.

Research output: Contribution to journalArticle