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1

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

M Fanin, A Anichini, D Cassandrini, C Fiorillo, S Scapolan, C Minetti, M Cassanello, MA Donati, G Siciliano, A D'Amico, F Lilliu, C Bruno, C Angelini

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 573 KB

english, 2012

2

Why without pay? Intrinsic motivation in the unpaid labour supply

Bruna Bruno, Damiano Fiorillo

Journal:

The Journal of Socio-Economics

Year:

2012

Language:

english

File:

PDF, 400 KB

english, 2012

3

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

Anichini, Angelica, Fanin, Marina, Vianey-Saban, Christine, Cassandrini, Denise, Fiorillo, Chiara, Bruno, Claudio, Angelini, Corrado

Journal:

Neurological Research

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

4

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

Severino, Mariasavina, Lualdi, Susanna, Fiorillo, Chiara, Striano, Pasquale, De Toni, Teresa, Peluso, Silvio, De Michele, Giuseppe, Rossi, Andrea, Filocamo, Mirella, Bruno, Claudio

Journal:

Journal of Neurology

Year:

2018

Language:

english

File:

PDF, 1.20 MB

english, 2018

5

Prevalence and etiology of altered liver tests: A population-based survey in a Mediterranean town

Gaspare Maria Pendino, Andrea Mariano, Pasquale Surace, Carmelo Antonio Caserta, Maria Teresa Fiorillo, Angela Amante, Stefania Bruno, Carmelo Mangano, Irene Polito, Fulvia Amato, Rodolfo Cotichini, T

Journal:

Year:

2005

Language:

english

File:

PDF, 152 KB

english, 2005

6

Gastroduodenal Lesions and Helicobacter pylori Infection in Dyspeptic Patients With and Without Chronic Renal Failure

Gerardo Nardone, Alba Rocco, Maria Fiorillo, Mariassunta Del Pezzo, Giovanni Autiero, Rosario Cuomo, Giovanni Sarnelli, Antonietta Lambiase, Gabriele Budillon, Bruno Cianciaruso

Journal:

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

7

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

Claudio Bruno, Denise Cassandrini, Fabiana Fattori, Marina Pedemonte, Chiara Fiorillo, Giorgia Brigati, Giacomo Brisca, Carlo Minetti, Filippo M. Santorelli

Journal:

Biochemical and Biophysical Research Communications

Year:

2011

Language:

english

File:

PDF, 634 KB

english, 2011

8

P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population

G. Astrea, C. Pecini, F. Gasperini, C. Fiorillo, C. Bruno, G. Cioni, L. Politano, F.M. Santorelli, R. Battini

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

9

P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis

C. Fiorillo, F. Moro, G. Astrea, R. Battini, C. Gully, A. Olschewski, M. Auer-Grumbach, C. Bruno, F.M. Santorelli

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

10

P.262 Antiviral treatment for hepatitis C virus (HCV) infection: effectiveness in the general population of a highly endemic area

C.A. Caserta, A. Mariano, G.M. Pendino, P. Surace, M.T. Fiorillo, I. Polito, S. Bruno, A. Amante, F. Amato, A. Messineo, A. Mele, A. Group

Journal:

Journal of Clinical Virology

Year:

2006

Language:

english

File:

PDF, 141 KB

english, 2006

11

Prolonged survival of a patient with disseminated neuroblastoma

Amedeo Fiorillo, Roberta Migliorati, Oscar Tamburrini, Fabio Pellegrini, Pietro Vecchio, Wilma Buffolano, Bruno De Bernardi

Journal:

The Journal of Pediatrics

Year:

1982

Language:

english

File:

PDF, 1.10 MB

english, 1982

12

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

Fattori, F., Maggi, L., Bruno, C., Codemo, V., Tasca, G., Battini, R., Berardinelli, A., Catteruccia, M., Cassandrini, D., Fiorillo, C., Pane, M., Pegoraro, E., Mora, M., Morandi, L., Comi, P.G., Merc

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

13

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Morales, Maria Aurora, Baldacci, Jacopo, Marchese, Maria, Scapolan, Sara, Bruno, Claudio, Battini, Roberta, Santorelli, Filippo M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 790 KB

english, 2013

14

Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

Fiorillo, Chiara, Moro, Francesca, Yi, Julie, Weil, Sarah, Brisca, Giacomo, Astrea, Guja, Severino, Mariasavina, Romano, Alessandro, Battini, Roberta, Rossi, Andrea, Minetti, Carlo, Bruno, Claudio, Sa

Journal:

Year:

2014

Language:

english

File:

PDF, 587 KB

english, 2014

15

Dosimetry of High Intensity Electron Beams Produced by Dedicated Accelerators in Intra-Operative Radiation Therapy (IORT)

Lamanna, Ernesto, Fiorillo, Antonino Secondo, Bruno, Carlo, Santaniello, Anna, Siaka, Yvette Flore Tchuente, Berdondini, Andrea, Bettuzzi, Matteo, Brancaccio, Rosa, Casali, Franco, Morigi, Maria Pia,

Journal:

IEEE Transactions on Nuclear Science

Year:

2009

Language:

english

File:

PDF, 1019 KB

english, 2009

16

ROLE OF THE SYMPATHETIC NERVOUS SYSTEM IN CARDIAC REMODELING IN HYPERTENSION

Iaccarino, Guido, Barbato, Emanuele, Cipoletta, Ersilia, Fiorillo, Antonia, Trimarco, Bruno

Journal:

Clinical and Experimental Hypertension

Year:

2001

Language:

english

File:

PDF, 124 KB

english, 2001

17

Limb-girdle muscular dystrophy with -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.

Journal:

Year:

2013

Language:

english

File:

PDF, 440 KB

english, 2013

18

Muscle MRI in TRPV4-related congenital distal SMA

Astrea, G., Brisca, G., Fiorillo, C., Valle, M., Tosetti, M., Bruno, C., Santorelli, F. M., Battini, R.

Journal:

Year:

2012

Language:

english

File:

PDF, 247 KB

english, 2012

19

Cytogenetic description of the Amazonian brown brocket Mazama nemorivaga (Artiodactyla, Cervidae)

Fiorillo, Bruno Ferreto, Sarria-Perea, Javier Adolfo, Abril, VanessaVeltrini, Duarte, José Maurício Barbanti

Journal:

Comparative Cytogenetics

Year:

2013

Language:

english

File:

PDF, 614 KB

english, 2013

20

Fibrin Resistance to Lysis in Patients with Pulmonary Hypertension Other Than Thromboembolic

Miniati, Massimo, Fiorillo, Claudia, Becatti, Matteo, Monti, Simonetta, Bottai, Matteo, Marini, Carlo, Grifoni, Elisa, Formichi, Bruno, Bauleo, Carolina, Arcangeli, Chiara, Poli, Daniela, Nassi, Paolo

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2010

Language:

english

File:

PDF, 202 KB

english, 2010

21

Genetic and early clinical manifestations of females heterozygous for Duchenne muscular dystrophy

Papa, R., Madia, F., Bartolomeo, D., Trucco, F., Pedemonte, M., Traverso, M., Broda, P., Bruno, C., Zara, F., Minetti, C., Fiorillo, C.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 483 KB

english, 2015

22

Surgical correction of scoliosis in patients with congenital myopathies

Trucco, F., Andaloro, A., Pedemonte, M., Lanzillotta, V., Panicucci, C., Fiorillo, C., Becchetti, F., Minetti, C., Bruno, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

23

X-linked myotubular myopathy in females

Fiorillo, C., Fattori, F., Astrea, G., Pedemonte, M., Rubegni, A., Trucco, F., Tessa, A., Savarese, M., Baldacci, J., Broda, P., Bertini, E., Minetti, C., Nigro, V., Bruno, C., Santorelli, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

24

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

Marchese, Maria, Pappalardo, Andrea, Baldacci, Jacopo, Verri, Tiziano, Doccini, Stefano, Cassandrini, Denise, Bruno, Claudio, Fiorillo, Chiara, Garcia-Gil, Mercedes, Bertini, Enrico, Pitto, Letizia, S

Journal:

Biochemical and Biophysical Research Communications

Year:

2016

Language:

english

File:

PDF, 2.17 MB

english, 2016

25

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy

Assereto, Stefania, Piccirillo, Rosanna, Baratto, Serena, Scudieri, Paolo, Fiorillo, Chiara, Massacesi, Manuela, Traverso, Monica, Galietta, Luis J, Bruno, Claudio, Minetti, Carlo, Zara, Federico, Gaz

Journal:

Laboratory Investigation

Year:

2016

Language:

english

File:

PDF, 3.54 MB

english, 2016

26

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo, C., Moro, F., Brisca, G., Accogli, A., Trucco, F., Trovato, R., Pedemonte, M., Severino, M., Catala, M., Capra, V., Santorelli, F. M., Bruno, C., Rossi, A., Minetti, C.

Journal:

European Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 925 KB

english, 2016

27

SPIE Proceedings [SPIE Optical Engineering + Applications - San Diego, CA (Sunday 26 August 2007)] Hard X-Ray and Gamma-Ray Detector Physics IX - Study and realization of real-time in-depth dosimetry system for IORT (intra operative radiation therapy)

Brancaccio, R., James, Ralph B., Burger, Arnold, Bettuzzi, M., Casali, F., Franks, Larry A., Morigi, M. P., Berdondini, A., Bruno, C., Tchuente Siaka, Y. F., Santaniello, A., Lamanna, E., Fiorillo, A.

Year:

2007

Language:

english

File:

PDF, 412 KB

english, 2007

28

VOLUNTARY WORK AND WAGES

BRUNO, Bruna, FIORILLO, Damiano

Journal:

Annals of Public and Cooperative Economics

Year:

2016

Language:

english

File:

PDF, 227 KB

english, 2016

29

Respiratory pattern in a FSHD pediatric population

Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tacchetti, Paola, Brisca, Giacomo, Bruno, Claudio, Minetti, Carlo

Journal:

Respiratory Medicine

Year:

2016

Language:

english

File:

PDF, 353 KB

english, 2016

30

Inflammatory myopathy in a patient with collagen VI mutations

Papa, R, Fiorillo, C, Malattia, C, Minoia, F, Caorsi, R, Assereto, S, Iacomino, M, Savarese, M, Nigro, V, Bruno, C, Minetti, C, Picco, P

Journal:

Scandinavian Journal of Rheumatology

Year:

2017

Language:

english

File:

PDF, 504 KB

english, 2017

31

Respiratory pattern in a FSDH paediatric population

Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tacchetti, Paola, Brisca, Giacomo, Bruno, Claudio, Minetti, Carlo

Journal:

Respiratory Medicine

Year:

2017

Language:

english

File:

PDF, 130 KB

english, 2017

32

Gait disturbance and lower limb pain in a patient with PIK3CA -related disorder

Cappuccio, Gerarda, Alagia, Marianna, D'Anna, Mariangela, Ranieri, Carlotta, Di Tommaso, Silvia, Bruno, Claudio, Fiorillo, Chiara, Pedemonte, Marina, Loconte, Daria, Della Casa, Roberto, Strisciuglio,

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.24 MB

english, 2017

33

Congenital myopathy with protein aggregates and nemaline bodies related to CFL2 mutations

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Fagiolari, G., Lupica, A., Broda, P., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 241 KB

english, 2017

34

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tan, Hui-leng, Carlucci, Annalisa, Brisca, Giacomo, Tacchetti, Paola, Bruno, Claudio, Minetti, Carlo

Journal:

Journal of International Medical Research

Year:

2017

Language:

english

File:

PDF, 184 KB

english, 2017

35

Adalimumab-based treatment versus DMARDs for venous thrombosis in Behçet syndrome. A retrospective study of 70 patients with vascular involvement

Emmi, Giacomo, Vitale, Antonio, Silvestri, Elena, Boddi, Maria, Becatti, Matteo, Fiorillo, Claudia, Fabiani, Claudia, Frediani, Bruno, Emmi, Lorenzo, Scala, Gerardo Di, Goldoni, Matteo, Bettiol, Aless

Journal:

Arthritis & Rheumatology

Year:

2018

Language:

english

File:

PDF, 497 KB

english, 2018

36

Expanding the histopathological spectrum of CFL2 -related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Berti

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

37

Congenital myopathies: clinical phenotypes and new diagnostic tools

Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M.

Journal:

Italian Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

38

[IEEE 2018 IEEE International Symposium on Medical Measurements and Applications (MeMeA) - Rome, Italy (2018.6.11-2018.6.13)] 2018 IEEE International Symposium on Medical Measurements and Applications (MeMeA) - Development of a Low-cost Nailfold Capillaroscopy Platform to Enhance Early Detection of Secondary Raynaud’s Phenomenon

Pullano, S. A., Bianco, M. G., Ursini, F., Bruno, C., Fiorillo, A. S., Mahbub, I., Tasneem, N. T.

Year:

2018

Language:

english

File:

PDF, 408 KB

english, 2018

39

Deciphering the olfactory repertoire of the tiger mosquito Aedes albopictus

Lombardo, Fabrizio, Salvemini, Marco, Fiorillo, Carmine, Nolan, Tony, Zwiebel, Laurence J., Ribeiro, José M., Arcà, Bruno

Journal:

Year:

2017

Language:

english

File:

PDF, 6.02 MB

english, 2017

40

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

DiIorgi, N., Medone, E., Brigati, G., Notarnicola, S., Panicucci, C., Fiorillo, C., Pedemonte, M., Minetti, C., Maghnie, M., Bruno, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

41

Anurans from preserved and disturbed areas of Atlantic Forest in the region of Etá Farm, municipality of Sete Barras, state of São Paulo, Brazil

Fiorillo, Bruno Ferreto, Faria, Carolina Sconfienza, Silva, Bruno Rocha, Martins, Marcio

Journal:

Biota Neotropica

Year:

2018

File:

PDF, 29.23 MB

2018

42

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, Lorenzo, Bernasconi, Pia, D’Amico, Adele, Brugnoni, Raffaella, Fiorillo, Chiara, Garibaldi, Matteo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo Maria, Liguori, Rocco, Antonini, Giovanni,

Journal:

Neurological Sciences

Year:

2018

Language:

english

File:

PDF, 821 KB

english, 2018

43

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Marchet, Silvia, Invernizzi, Federica, Blasevich, Flavia, Bruno, Valentina, Dusi, Sabrina, Venco, Paola, Fiorillo, Chiara, Baranello, Giovanni, Pallotti, Francesco, Lamantea, Eleonora, Mora, Marina, T

Journal:

Year:

2019

Language:

english

File:

PDF, 5.97 MB

english, 2019

44

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

D'Amico, A., Fattori, F., Fiorillo, C., Verardo, M., Catteruccia, M., Bellacchio, E., Moggio, M., Bruno, C., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

45

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Marchet, Silvia, Invernizzi, Federica, Blasevich, Flavia, Bruno, Valentina, Dusi, Sabrina, Venco, Paola, Fiorillo, Chiara, Baranello, Giovanni, Pallotti, Francesco, Lamantea, Eleonora, Mora, Marina, T

Journal:

Year:

2019

File:

PDF, 5.97 MB

2019

46

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Scala, Marcello, Brigati, Giorgia, Fiorillo, Chiara, Nesti, Claudia, Rubegni, Anna, Pedemonte, Marina, Bruno, Claudio, Severino, Mariasavina, Derchi, Maria, Minetti, Carlo, Santorelli, F. M.

Journal:

Year:

2019

Language:

english

File:

PDF, 2.15 MB

english, 2019

47

‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

D'Amico, Adele, Fattori, Fabiana, Fiorillo, Chiara, Paglietti, Maria Giovanna, Testa, Maria Beatrice Chiarini, Verardo, Margherita, Catteruccia, Michela, Bruno, Claudio, Bertini, Enrico

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.71 MB

english, 2019

48

FoxO3a as a Positive Prognostic Marker and a Therapeutic Target in Tamoxifen-Resistant Breast Cancer

Pellegrino, Michele, Rizza, Pietro, Donà, Ada, Nigro, Alessandra, Ricci, Elena, Fiorillo, Marco, Perrotta, Ida, Lanzino, Marilena, Giordano, Cinzia, Bonofiglio, Daniela, Bruno, Rosalinda, Sotgia, Fede

Journal:

Year:

2019

Language:

english

File:

PDF, 5.70 MB

english, 2019

49

FoxO3a as a Positive Prognostic Marker and a Therapeutic Target in Tamoxifen-Resistant Breast Cancer

Pellegrino, Michele, Rizza, Pietro, Donà, Ada, Nigro, Alessandra, Ricci, Elena, Fiorillo, Marco, Perrotta, Ida, Lanzino, Marilena, Giordano, Cinzia, Bonofiglio, Daniela, Bruno, Rosalinda, Sotgia, Fede

Journal:

Year:

2019

File:

PDF, 5.70 MB

2019

50

No Net Loss of Species Diversity After Prescribed Fires in the Brazilian Savanna

Durigan, Giselda, Pilon, Natashi A. L., Abreu, Rodolfo C. R., Hoffmann, William A., Martins, Marcio, Fiorillo, Bruno F., Antunes, Alexsander Z., Carmignotto, Ana Paula, Maravalhas, Jonas B., Vieira, J

Journal:

Frontiers in Forests and Global Change

Year:

2020

Language:

english

File:

PDF, 1.09 MB

english, 2020