1978 …2020

Research output per year

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Research Output

2014

Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy

Bertini, E. & Houlden, H., Apr 15 2014, In : Neurology. 82, 15, p. 1298-1299 2 p.

Research output: Contribution to journalArticle

Diagnostic approach to the congenital muscular dystrophies

Bönnemann, C. G., Wang, C. H., Quijano-Roy, S., Deconinck, N., Bertini, E., Ferreiro, A., Muntoni, F., Sewry, C., Béroud, C., Mathews, K. D., Moore, S. A., Bellini, J., Rutkowski, A. & North, K. N., 2014, In : Neuromuscular Disorders. 24, 4, p. 289-311 23 p.

Research output: Contribution to journalArticle

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia

Garaci, F., Toschi, N., Lanzafame, S., Meschini, A., Bertini, E., Simonetti, G., Santorelli, F. M., Guerrisi, M. & Floris, R., Apr 2014, In : International Journal of Neuroscience. 124, 4, p. 261-270 10 p.

Research output: Contribution to journalArticle

Effects of levosimendan on mitochondrial function in patients with septic shock: A randomized trial

Torraco, A., Carrozzo, R., Piemonte, F., Pastore, A., Tozzi, G., Verrigni, D., Assenza, M., Orecchioni, A., D'Egidio, A., Marraffa, E., Landoni, G., Bertini, E. & Morelli, A., 2014, In : Biochimie. 102, 1, p. 166-173 8 p.

Research output: Contribution to journalArticle

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

Arnedo, T., Aiello, C., Jeworutzki, E., Dentici, M. L., Uziel, G., Simonati, A., Pusch, M., Bertini, E. & Estévez, R., 2014, In : Neurogenetics. 15, 1, p. 41-48 8 p.

Research output: Contribution to journalArticle

Frataxin silencing inactivates mitochondrial complex i in NSC34 motoneuronal cells and alters glutathione homeostasis

Carletti, B., Piermarini, E., Tozzi, G., Travaglini, L., Torraco, A., Pastore, A., Sparaco, M., Petrillo, S., Carrozzo, R., Bertini, E. & Piemonte, F., Apr 4 2014, In : International Journal of Molecular Sciences. 15, 4, p. 5789-5806 18 p.

Research output: Contribution to journalArticle

Glutathione metabolism in cobalamin deficiency type C (cblC)

Pastore, A., Martinelli, D., Piemonte, F., Tozzi, G., Boenzi, S., Di Giovamberardino, G., Petrillo, S., Bertini, E. & Dionisi-Vici, C., Jan 2014, In : Journal of Inherited Metabolic Disease. 37, 1, p. 125-129 5 p.

Research output: Contribution to journalArticle

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Mazzone, E., De Sanctis, R., Fanelli, L., Bianco, F., Main, M., Van den Hauwe, M., Ash, M., De Vries, R., Fagoaga Mata, J., Schaefer, K., D'Amico, A., Colia, G., Palermo, C., Scoto, M., Mayhew, A., Eagle, M., Servais, L., Vigo, M., Febrer, A., Korinthenberg, R. & 10 others, Jeukens, M., De Viesser, M., Totoescu, A., Voit, T., Bushby, K., Muntoni, F., Goemans, N., Bertini, E., Pane, M. & Mercuri, E., 2014, In : Neuromuscular Disorders. 24, 4, p. 347-352 6 p.

Research output: Contribution to journalArticle

Hypomyelinating leukodystrophies: Translational research progress and prospects

Pouwels, P. J. W., Vanderver, A., Bernard, G., Wolf, N. I., Dreha-Kulczewksi, S. F., Deoni, S. C. L., Bertini, E., Kohlschütter, A., Richardson, W., Ffrench-Constant, C., Köhler, W., Rowitch, D. & Barkovich, A. J., 2014, In : Annals of Neurology. 76, 1, p. 5-19 15 p.

Research output: Contribution to journalArticle

In vitro neurogenesis: Development and functional implications of iPSC technology

Compagnucci, C., Nizzardo, M., Corti, S., Zanni, G. & Bertini, E., 2014, In : Cellular and Molecular Life Sciences. 71, 9, p. 1623-1639 17 p.

Research output: Contribution to journalArticle

Leiomodin-dysfunction results in thin filament disorganization and nemaline myopathy

Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B. & 37 others, Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., Van Den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerrière, A., Gregorio, C. C., Ottenheijm, C. A. C., Bönnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N. & Clarke, N. F., Nov 3 2014, In : Journal of Clinical Investigation. 124, 11, p. 4693-4708 16 p.

Research output: Contribution to journalArticle

LMNA-associated myopathies: The Italian experience in a large cohort of patients

Maggi, L., D'Amico, A., Pini, A., Sivo, S., Pane, M., Ricci, G., Vercelli, L., D'Ambrosio, P., Travaglini, L., Sala, S., Brenna, G., Kapetis, D., Scarlato, M., Pegoraro, E., Ferrari, M., Toscano, A., Benedetti, S., Bernasconi, P., Colleoni, L., Lattanzi, G. & 10 others, Bertini, E., Mercuri, E., Siciliano, G., Rodolico, C., Mongini, T., Politano, L., Previtali, S. C., Carboni, N., Mantegazza, R. & Morandi, L., Oct 1 2014, In : Neurology. 83, 18, p. 1634-1644 11 p.

Research output: Contribution to journalArticle

Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes

Pane, M., Mazzone, E. S., Sivo, S., Sormani, M. P., Messina, S., D'Amico, A., Carlesi, A., Vita, G., Fanelli, L., Berardinelli, A., Torrente, Y., Lanzillotta, V., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Barp, A., Bonfiglio, S., Scalise, R., De Sanctis, R. & 19 others, Rolle, E., Graziano, A., Magri, F., Palermo, C., Rossi, F., Donati, M. A., Sacchini, M., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E. & Mercuri, E., Oct 1 2014, In : PLoS One. 9, 10, e108205.

Research output: Contribution to journalArticle

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis

Brignone, M. S., Lanciotti, A., Visentin, S., De Nuccio, C., Molinari, P., Camerini, S., Diociaiuti, M., Petrini, S., Minnone, G., Crescenzi, M., Laudiero, L. B., Bertini, E., Petrucci, T. C. & Ambrosini, E., 2014, In : Neurobiology of Disease. 66, p. 1-18 18 p.

Research output: Contribution to journalArticle

Mitochondrial dysfunction in central nervous system white matter disorders

Morató, L., Bertini, E., Verrigni, D., Ardissone, A., Ruiz, M., Ferrer, I., Uziel, G. & Pujol, A., 2014, In : GLIA. 62, 11, p. 1878-1894 17 p.

Research output: Contribution to journalArticle

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy

Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., D'Amico, A., Alvarez, K., Gejman, R., Diaz, J., Santorelli, F. M., Romero, N. B., Bertini, E. & Bevilacqua, J. A., Dec 1 2014, In : Muscle and Nerve. 50, 6, p. 1011-1016 6 p.

Research output: Contribution to journalArticle

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F. & 31 others, Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Régal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rötig, A., Haack, T. B., Minczuk, M. & Prokisch, H., Dec 4 2014, In : American Journal of Human Genetics. 95, 6, p. 708-720 13 p.

Research output: Contribution to journalArticle

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, M., Lehtokari, V. L., Marston, S., Nyman, T. A., Barnerias, C., Beggs, A. H., Bertini, E., Ceyhan-Birsoy, Ö., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J. S., Longman, C., Eymard, B., Frydman, M., Kang, P. B., Klinge, L., Kolski, H., Lochmüller, H., Magy, L. & 21 others, Manel, V., Mayer, M., Mercuri, E., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R., Stewart, W., Taratuto, A. L., de Visser, M., Wilichowski, E., Winer, J., Nowak, K., Laing, N. G., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Grönholm, M. & Wallgren-Pettersson, C., 2014, In : Human Mutation. 35, 7, p. 779-790 12 p.

Research output: Contribution to journalArticle

Myoclonus in mitochondrial disorders

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Catteruccia, M., Pegoraro, E., Carelli, V., Valentino, M. L., Comi, G. P., Minetti, C., Bruno, C., Moggio, M., Ienco, E. C., Mongini, T., Vercelli, L., Primiano, G., Servidei, S., Tonin, P., Scarpelli, M., Toscano, A. & 9 others, Musumeci, O., Moroni, I., Uziel, G., Santorelli, F. M., Nesti, C., Filosto, M., Lamperti, C., Zeviani, M. & Siciliano, G., 2014, In : Movement Disorders. 29, 6, p. 722-728 7 p.

Research output: Contribution to journalArticle

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., Odent, S. & 13 others, Pinelli, L., Poo, P., Santucci, M., Signorini, S., Simonati, A., Spiegel, R., Stanzial, F., Steinlin, M., Tabarki, B., Wolf, N. I., Zibordi, F., Boltshauser, E. & Valente, E. M., 2014, In : Human Genetics. 134, 1, p. 123-126 4 p.

Research output: Contribution to journalArticle

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Pane, M., Mazzone, E. S., Fanelli, L., De Sanctis, R., Bianco, F., Sivo, S., D'Amico, A., Messina, S., Battini, R., Scutifero, M., Petillo, R., Frosini, S., Scalise, R., Vita, G., Bruno, C., Pedemonte, M., Mongini, T., Pegoraro, E., Brustia, F., Gardani, A. & 22 others, Berardinelli, A., Lanzillotta, V., Viggiano, E., Cavallaro, F., Sframeli, M., Bello, L., Barp, A., Bonfiglio, S., Rolle, E., Colia, G., Catteruccia, M., Palermo, C., D'Angelo, G., Pini, A., Iotti, E., Gorni, K., Baranello, G., Morandi, L., Bertini, E., Politano, L., Sormani, M. & Mercuri, E., Mar 2014, In : Neuromuscular Disorders. 24, 3, p. 201-206 6 p.

Research output: Contribution to journalArticle

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency: The chaperon-like effect of vitamin B2

Carrozzo, R., Torraco, A., Fiermonte, G., Martinelli, D., Di Nottia, M., Rizza, T., Vozza, A., Verrigni, D., Diodato, D., Parisi, G., Maiorana, A., Rizzo, C., Pierri, C. L., Zucano, S., Piemonte, F., Bertini, E. & Dionisi-Vici, C., Sep 1 2014, In : Mitochondrion. 18, p. 49-57 9 p.

Research output: Contribution to journalArticle

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, A., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Catteruccia, M., Moroni, I. & 11 others, Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., 2014, In : Journal of Neurology. 261, 3, p. 504-510 7 p.

Research output: Contribution to journalArticle

TMEM70 deficiency: long-term outcome of 48 patients

Magner, M., Dvorakova, V., Tesarova, M., Mazurova, S., Hansikova, H., Zahorec, M., Brennerova, K., Bzduch, V., Spiegel, R., Horovitz, Y., Mandel, H., Eminoğlu, F. T., Mayr, J. A., Koch, J., Martinelli, D., Bertini, E., Konstantopoulou, V., Smet, J., Rahman, S., Broomfield, A. & 7 others, Stojanović, V., Dionisi-Vici, C., van Coster, R., Morava-Kozicz, E., Sperl, W., Zeman, J. & Honzik, T., Oct 18 2014, In : Journal of Inherited Metabolic Disease. 38, 3, p. 417-426 10 p.

Research output: Contribution to journalArticle

2013

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

Astrocytes: Emerging stars in leukodystrophy pathogenesis

Lanciotti, A., Brignone, M. S., Bertini, E., Petrucci, T. C., Aloisi, F. & Ambrosini, E., Jun 2013, In : Translational Neuroscience. 4, 2, p. 144-164 21 p.

Research output: Contribution to journalArticle

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., Mar 2013, In : Neuromuscular Disorders. 23, 3, p. 229-238 10 p.

Research output: Contribution to journalArticle

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., 2013, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: A case report

Martoni, E., Petrini, S., Trabanelli, C., Sabatelli, P., Urciuolo, A., Selvatici, R., D'Amico, A., Falzarano, S., Bertini, E., Bonaldo, P., Ferlini, A. & Gualandi, F., Jun 5 2013, In : BMC Medical Genetics. 14, 1, 59.

Research output: Contribution to journalArticle

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: Further delineation of a cobblestone-like phenotype

Quattrocchi, C. C., Zanni, G., Napolitano, A., Longo, D., Cordelli, D. M., Barresi, S., Randisi, F., Valente, E. M., Verdolotti, T., Genovese, E., Specchio, N., Vitiello, G., Spiegel, R., Bertini, E. & Bernardi, B., Feb 2013, In : Neurogenetics. 14, 1, p. 77-83 7 p.

Research output: Contribution to journalArticle

Dandy-Walker malformation and Wisconsin syndrome: Novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Ferraris, A., Bernardini, L., Sabolic Avramovska, V., Zanni, G., Loddo, S., Sukarova-Angelovska, E., Parisi, V., Capalbo, A., Tumini, S., Travaglini, L., Mancini, F., Duma, F., Barresi, S., Novelli, A., Mercuri, E., Tarani, L., Bertini, E., Dallapiccola, B. & Valente, E. M., 2013, In : Orphanet Journal of Rare Diseases. 8, 1, 75.

Research output: Contribution to journalArticle

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

Zanni, G., Colafati, G. S., Barresi, S., Randisi, F., Talamanca, L. F., Genovese, E., Bellacchio, E., Bartuli, A., Bernardi, B. & Bertini, E., Jul 2013, In : European Journal of Paediatric Neurology. 17, 4, p. 361-365 5 p.

Research output: Contribution to journalArticle

Duchenne muscular dystrophy and epilepsy

Pane, M., Messina, S., Bruno, C., D'Amico, A., Villanova, M., Brancalion, B., Sivo, S., Bianco, F., Striano, P., Battaglia, D., Lettori, D., Vita, G. L., Bertini, E., Gualandi, F., Ricotti, V., Ferlini, A. & Mercuri, E., Apr 2013, In : Neuromuscular Disorders. 23, 4, p. 313-315 3 p.

Research output: Contribution to journalArticle

Early neurodevelopmental assessment in Duchenne muscular dystrophy

Pane, M., Scalise, R., Berardinelli, A., D'Angelo, G., Ricotti, V., Alfieri, P., Moroni, I., Hartley, L., Pera, M. C., Baranello, G., Catteruccia, M., Casalino, T., Romeo, D. M., Graziano, A., Gandioli, C., Bianco, F., Mazzone, E. S., Lombardo, M. E., Scoto, M., Sivo, S. & 7 others, Palermo, C., Gualandi, F., Sormani, M. P., Ferlini, A., Bertini, E., Muntoni, F. & Mercuri, E., Jun 2013, In : Neuromuscular Disorders. 23, 6, p. 451-455 5 p.

Research output: Contribution to journalArticle

Efficacy of Miglustat in Niemann-Pick C disease: A single centre experience

Ginocchio, V. M., D'Amico, A., Bertini, E., Ceravolo, F., Dardis, A., Verrigni, D., Bembi, B., Dionisi-Vici, C. & Deodato, F., Nov 2013, In : Molecular Genetics and Metabolism. 110, 3, p. 329-335 7 p.

Research output: Contribution to journalArticle

Erratum: MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy (Brain (2013) 136 (872-881))

Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M. & Hubert, L., 2013, In : Brain. 136, 10

Research output: Contribution to journalArticle

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E. & Wei, W., 2013, In : Neurogenetics. 14, 3-4, p. 247-250 4 p.

Research output: Contribution to journalArticle

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-Related factor (Nrf2) in cultured motor neurons

D'Oria, V., Petrini, S., Travaglini, L., Priori, C., Piermarini, E., Petrillo, S., Carletti, B., Bertini, E. & Piemonte, F., 2013, In : International Journal of Molecular Sciences. 14, 4, p. 7853-7865 13 p.

Research output: Contribution to journalArticle

Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

Pastore, A., Petrillo, S., Tozzi, G., Carrozzo, R., Martinelli, D., Dionisi-Vici, C., Di Giovamberardino, G., Ceravolo, F., Klein, M. B., Miller, G., Enns, G. M., Bertini, E. & Piemonte, F., Jun 2013, In : Molecular Genetics and Metabolism. 109, 2, p. 208-214 7 p.

Research output: Contribution to journalArticle

Hereditary spastic paraplegias: One disease for many genes, and still counting

Denora, P. S., Santorelli, F. M. & Bertini, E., 2013, In : Handbook of Clinical Neurology. 113, p. 1899-1912 14 p.

Research output: Contribution to journalArticle

Joubert syndrome and related disorders

Valente, E. M., Dallapiccola, B. & Bertini, E., 2013, In : Handbook of Clinical Neurology. 113, p. 1879-1888 10 p.

Research output: Contribution to journalArticle

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Tasca, G., Moro, F., Aiello, C., Cassandrini, D., Fiorillo, C., Bertini, E., Bruno, C., Santorelli, F. M. & Ricci, E., Mar 5 2013, In : Neurology. 80, 10, p. 963-965 3 p.

Research output: Contribution to journalArticle

MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy

Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G. & Dionisi-Vici, C., 2013, In : Brain. 136, 3, p. 872-881 10 p.

Research output: Contribution to journalArticle

Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients

Selim, L. A. M., Mehaney, D. A., Hassan, F. A. H., Hassan, S. A. H., Gamaleldin, I., Sabry, R. & Bertini, E., Jun 1 2013, In : Journal of Genetic Engineering and Biotechnology. 11, 1, p. 61-68 8 p.

Research output: Contribution to journalArticle

Metabolic neuropathies and myopathies

D'amico, A. & Bertini, E., 2013, In : Handbook of Clinical Neurology. 113, p. 1437-1455 19 p.

Research output: Contribution to journalArticle