1978 …2020

Research output per year

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Research Output

2017

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

SYNAPS Study Group, Aug 1 2017, In : Brain. 140, 8, p. e49

Research output: Contribution to journalLetter

The potential of iPSCs for the treatment of premature aging disorders

Compagnucci, C. & Bertini, E., Nov 7 2017, In : International Journal of Molecular Sciences. 18, 11, 2350.

Research output: Contribution to journalReview article

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., Oct 24 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticle

2016

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

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N. B., Genazzani, A., Bertini, E. & Antonini, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

Bottillo, I., Giordano, C., Cerbelli, B., D'Angelantonio, D., Lipari, M., Polidori, T., Majore, S., Bertini, E., D'Amico, A., Giannarelli, D., De Bernardo, C., Masuelli, L., Musumeci, F., Avella, A., Re, F., Zachara, E., d'Amati, G. & Grammatico, P., Sep 1 2016, In : Cardiovascular Pathology. 25, 5, p. 423-431 9 p.

Research output: Contribution to journalArticle

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi-Vici, C., Christodoulou, J. & 2 others, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., Christodoulou, J. & 2 others, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., de Bardi, M., Nazio, F., D'Amico, A., Bertini, E., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., De Bardi, M., Nazio, F., D'Amico, A., Bertini, E. S., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Flex, E., Niceta, M., Cecchetti, S., Thiffault, I., Au, M. G., Capuano, A., Piermarini, E., Ivanova, A. A., Francis, J. W., Chillemi, G., Chandramouli, B., Carpentieri, G., Haaxma, C. A., Ciolfi, A., Pizzi, S., Douglas, G. V., Levine, K., Sferra, A., Dentici, M. L., Pfundt, R. R. & 11 others, Le Pichon, J. B., Farrow, E., Baas, F., Piemonte, F., Dallapiccola, B., Graham, J. M., Saunders, C. J., Bertini, E., Kahn, R. A., Koolen, D. A. & Tartaglia, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 962-973 12 p.

Research output: Contribution to journalArticle

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E. S., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Nicita, F., Travaglini, L., Sabatini, S., Garavaglia, B., Panteghini, C., Valeriani, M., Bertini, E., Nardocci, N., Vigevano, F. & Capuano, A., Sep 1 2016, In : Parkinsonism and Related Disorders. 30, p. 81-82 2 p.

Research output: Contribution to journalLetter

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., Von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E. S., Boltshauser, E. & Valente, E. M., 2016, In : European Journal of Human Genetics. 24, 9, p. 1262-1267

Research output: Contribution to journalArticle

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., Von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E. S., Boltshauser, E. & Valente, E. M., Mar 2 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E., Boltshauser, E. & Valente, E. M., Mar 2 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E., Leuzzi, V., Valente, E. M. & Riva, D., Dec 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

Nicita, F., Bertini, E., Travaglini, L., Armando, M. & Aiello, C., Sep 15 2016, In : Journal of the Neurological Sciences. 368, p. 145-146 2 p.

Research output: Contribution to journalLetter

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs)

Compagnucci, C., Piermarini, E., Sferra, A., Borghi, R., Niceforo, A., Petrini, S., Piemonte, F. & Bertini, E., Dec 1 2016, In : Molecular and Cellular Neuroscience. 77, p. 113-124 12 p.

Research output: Contribution to journalArticle

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

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

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

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E. S., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 9 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Vita, G., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., Jul 4 2016, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E. S., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.

Research output: Contribution to journalArticle

Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A. R., Bertini, E., Piemonte, F., Carrozzo, R. & Silvestri, G., Oct 6 2016, In : Clinical Genetics.

Research output: Contribution to journalArticle

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Marchese, M., Pappalardo, A., Baldacci, J., Verri, T., Doccini, S., Cassandrini, D. A., Bruno, C., Fiorillo, C., Garcia-Gil, M., Bertini, E. S., Pitto, L. & Santorelli, F. M., Aug 12 2016, In : Biochemical and Biophysical Research Communications. 477, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Lucia Valentino, M., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Soraru, G., Carelli, V., Stramare, R., Bertini, E. S., Carrozzo, R., Salviati, L. & Pegoraro, E., Dec 2 2016, (Accepted/In press) In : Neurogenetics. p. 1 1 p.

Research output: Contribution to journalArticle

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E. S., Carozzo, R., Salviati, L. & Pegoraro, E., Feb 29 2016, (Accepted/In press) In : Neurogenetics. p. 1 1 p.

Research output: Contribution to journalArticle

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia

Piermarini, E., Cartelli, D., Pastore, A., Tozzi, G., Compagnucci, C., Giorda, E., D'Amico, J., Petrini, S., Bertini, E., Cappelletti, G. & Piemonte, F., Oct 1 2016, In : Human Molecular Genetics. 25, 19, p. 4288-4301 14 p.

Research output: Contribution to journalArticle

Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study

Vasco, G., Gazzellini, S., Petrarca, M., Lispi, M. L., Pisano, A., Zazza, M., Bella, G. D., Castelli, E. & Bertini, E., Sep 1 2016, In : PLoS One. 11, 9, e0162463.

Research output: Contribution to journalArticle

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

Messina, S., Vita, G. L., Sframeli, M., Mondello, S., Mazzone, E., D'Amico, A., Berardinelli, A., La Rosa, M., Bruno, C., Distefano, M. G., Baranello, G., Barcellona, C., Scutifero, M., Marcato, S., Palmieri, A., Politano, L., Morandi, L., Mongini, T., Pegoraro, E., D'Angelo, M. G. & 6 others, Pane, M., Rodolico, C., Minetti, C., Bertini, E., Vita, G. & Mercuri, E., Mar 1 2016, In : Neuromuscular Disorders. 26, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

Messina, S., Vita, G. L., Sframeli, M., Mondello, S., Mazzone, E. S., D'Amico, A., Berardinelli, A. L., La Rosa, M., Bruno, C., Distefano, M. G., Baranello, G., Barcellona, C., Scutifero, M., Marcato, S., Palmieri, A., Politano, L., Morandi, L., Mongini, T., Pegoraro, E., D'Angelo, M. G. & 6 others, Pane, M., Rodolico, C., Minetti, C., Bertini, E. S., Vita, G. & Mercuri, E., Mar 1 2016, In : Neuromuscular Disorders. 26, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

Messina, S., Vita, G. L., Sframeli, M., Mondello, S., Mazzone, E. S., D'Amico, A., Berardinelli, A. L., La Rosa, M., Bruno, C., Distefano, M. G., Baranello, G., Barcellona, C., Scutifero, M., Marcato, S., Palmieri, A., Politano, L., Morandi, L., Mongini, T., Pegoraro, E., D'Angelo, M. G. & 6 others, Pane, M., Rodolico, C., Minetti, C., Bertini, E. S., Vita, G. & Mercuri, E., Mar 1 2016, In : Neuromuscular Disorders. 26, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

Messina, S., Vita, G. L., Sframeli, M., Mondello, S., Mazzone, E. S., D'Amico, A., Berardinelli, A. L., La Rosa, M., Bruno, C., Distefano, M. G., Baranello, G., Barcellona, C., Scutifero, M., Marcato, S., Palmieri, A., Politano, L., Morandi, L., Mongini, T., Pegoraro, E., D'Angelo, M. G. & 6 others, Pane, M., Rodolico, C., Minetti, C., Bertini, E. S., Vita, G. & Mercuri, E., Mar 1 2016, In : Neuromuscular Disorders. 26, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M. G., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Immune-mediated rippling muscle disease and myasthenia gravis

Bettini, M., Gonorazky, H., Chaves, M., Fulgenzi, E., Figueredo, A., Christiansen, S., Cristiano, E., Bertini, E. S. & Rugiero, M., Oct 15 2016, In : Journal of Neuroimmunology. 299, p. 59-61 3 p.

Research output: Contribution to journalArticle

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., Van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., Van Der Knaap, M. S. & Bertini, E., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E. S., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle