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1

Old measures and new scores in spinal muscular atrophy patients

Mazzone, Elena, Montes, Jacqueline, Main, Marion, Mayhew, Anna, Ramsey, Danielle, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria C., Sco

Journal:

Year:

2015

Language:

english

File:

PDF, 74 KB

english, 2015

2

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop, Ravi Knight, Marika Pane, Maria Kinali, Carsten Bonnemann, Kevin Flanigan, Ilaria Lapini, Kate Bushby, Guglielmina Pepe, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 315 KB

english, 2005

3

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

Adele D'Amico, Marina Cuttini, Lucilla Ravà, Eugenio Mercuri, Sonia Messina, Marika Pane, Chiara Mastella, Maria Beatrice Chiarini-Testa, Christina Brahe, Danilo Tiziano, Guiseppe Vita, Enrico Bertini

Journal:

Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

4

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fattori, Fabiana, Maggi, Lorenzo, Bruno, Claudio, Cassandrini, Denise, Codemo, Valentina, Catteruccia, Michela, Tasca, Giorgio, Berardinelli, Angela, Magri, Francesca, Pane, Marika, Rubegni, Anna, San

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 843 KB

english, 2015

5

Nusinersen in type 1 Spinal Muscular Atrophy: 12-month real world data

Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti

Journal:

Annals of Neurology

Year:

2019

File:

PDF, 529 KB

2019

6

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D’Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federi

Journal:

Year:

2019

File:

PDF, 1.10 MB

2019

7

Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies

Brogna, Claudia, Luigetti, Marco, Norcia, Giulia, Scalise, Roberta, Ferrantini, Gloria, Berti, Beatrice, Romeo, Domenico M., Manna, Raffaele, Mercuri, Eugenio, Pane, Marika

Journal:

Year:

2020

Language:

english

File:

PDF, 251 KB

english, 2020

8

Longitudinal natural history of type I spinal muscular atrophy: a critical review

Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C., Darras, Basil T., Kolb, Stephen J

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 859 KB

2020

9

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

Eugenio Mercuri, Emma Clements, Amaka Offiah, Anna Pichiecchio, Gessica Vasco, Flaviana Bianco, Angela Berardinelli, Adnan Manzur, Marika Pane, Sonia Messina, Francesca Gualandi, Enzo Ricci, Mary Ruth

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 390 KB

english, 2010

10

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

Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Matteo Bovolenta, Marcella Neri, Paolo Grumati, Adele D'Amico, Marika Pane, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bon

Journal:

Year:

2009

Language:

english

File:

PDF, 598 KB

english, 2009

11

Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Eugenio Mercuri, Anna Pichiecchio, Joanna Allsop, Sonia Messina, Marika Pane, Francesco Muntoni

Journal:

Journal of Magnetic Resonance Imaging

Year:

2007

Language:

english

File:

PDF, 510 KB

english, 2007

12

Prognostic value of EEG performed at term age in preterm infants

Teresa Randò, Daniela Ricci, Rita Luciano, M. Flavia Frisone, Giovanni Baranello, Tania Tonelli, Marika Pane, Costantino Romagnoli, Giuseppe Tortorolo, Eugenio Mercuri, Francesco Guzzetta

Journal:

Child's Nervous System

Year:

2006

Language:

english

File:

PDF, 109 KB

english, 2006

13

Current methodological issues in the study of children with inherited neuromuscular disorders

Eugenio Mercuri, Sonia Messina, Marika Pane, Enrico Bertini

Journal:

Developmental Medicine & Child Neurology

Year:

2008

Language:

english

File:

PDF, 62 KB

english, 2008

14

Early Thalamic Injury Associated with Epilepsy and Continuous Spike–Wave during Slow Sleep

Francesco Guzzetta, Domenica Battaglia, Chiara Veredice, Valeria Donvito, Marika Pane, Donatella Lettori, Francesca Chiricozzi, Daniela Chieffo, Tommaso Tartaglione, Charlotte Dravet

Journal:

Year:

2005

Language:

english

File:

PDF, 418 KB

english, 2005

15

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

Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 272 KB

english, 2009

16

Electroclinical Patterns and Evolution of Epilepsy in the 4p– Syndrome

Domenica Battaglia, Giuseppe Zampino, Marcella Zollino, Paolo Mariotti, Celeste Acquafondata, Donatella Lettori, Marika Pane, Isabella Vasta, Giovanni Neri, Charlotte Dravet, Francesco Guzzetta

Journal:

Year:

2003

Language:

english

File:

PDF, 294 KB

english, 2003

17

Thalamic atrophy in infants with PVL and cerebral visual impairment

Daniela Ricci, Shirley Anker, Frances Cowan, Marika Pane, Francesca Gallini, Rita Luciano, Valeria Donvito, Giovanni Baranello, Laura Cesarini, Flaviana Bianco, Mary Rutherford, Costantino Romagnoli,

Journal:

Early Human Development

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

18

The neurological examination of the newborn baby

Eugenio Mercuri, Daniela Ricci, Marika Pane, Giovanni Baranello

Journal:

Early Human Development

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

19

Neurological examination of preterm infants at term equivalent age

Daniela Ricci, Domenico M.M. Romeo, Leena Haataja, Ingrid C. van Haastert, Laura Cesarini, Jonna Maunu, Marika Pane, Francesca Gallini, Rita Luciano, Costantino Romagnoli, Linda S. de Vries, Frances M

Journal:

Early Human Development

Year:

2008

Language:

english

File:

PDF, 1.34 MB

english, 2008

20

Feeding problems and weight gain in Duchenne muscular dystrophy

Marika Pane, Isabella Vasta, Sonia Messina, Domenica Sorleti, Annie Aloysius, Federico Sciarra, Fortunato Mangiola, Maria Kinali, Enzo Ricci, Eugenio Mercuri

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

21

Cortical Visual Function in Preterm Infants in the First Year

Daniela Ricci, Laura Cesarini, Francesca Gallini, Francesca Serrao, Daniela Leone, Giovanni Baranello, Francesco Cota, Marika Pane, Claudia Brogna, Paola De Rose, Gessica Vasco, Paolo Alfieri, Susanna

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 284 KB

english, 2010

22

A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy

ELENA S MAZZONE, GESSICA VASCO, CONCETTA PALERMO, FLAVIANA BIANCO, CARMEN GALLUCCIO, VALERIA RICOTTI, ANTONELLA D CASTRONOVO, MARIA SOLE DI MAURO, MARIKA PANE, ANNA MAYHEW, EUGENIO MERCURI

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 106 KB

english, 2012

23

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Eugenio Mercuri, Kate Bushby, Enzo Ricci, Daniel Birchall, Marika Pane, Maria Kinali, Joanna Allsop, Vincenzo Nigro, Amets Sáenz, Annachiara Nascimbeni, Luigi Fulizio, Corrado Angelini, Francesco Munt

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 287 KB

english, 2005

24

Daily salbutamol in young patients with SMA type II

Marika Pane, Susanna Staccioli, Sonia Messina, Adele D’Amico, Marco Pelliccioni, Elena S. Mazzone, Marina Cuttini, Paolo Alfieri, Roberta Battini, Marion Main, Francesco Muntoni, Enrico Bertini, Marce

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

25

Feeding problems and malnutrition in spinal muscular atrophy type II

Sonia Messina, Marika Pane, Paola De Rose, Isabella Vasta, Domenica Sorleti, Annie Aloysius, Federico Sciarra, Fortunato Mangiola, Maria Kinali, Enrico Bertini, Eugenio Mercuri

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

26

Muscle MRI: Out of the tunnel

Flaviana Bianco, Antonio Leone, Marika Pane, Gessica Vasco, Cesare Colosimo, Eugenio Mercuri

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 217 KB

english, 2011

27

Muscle MRI in Becker muscular dystrophy

Giorgio Tasca, Elisabetta Iannaccone, Mauro Monforte, Marcella Masciullo, Flaviana Bianco, Francesco Laschena, Pierfrancesco Ottaviani, Marco Pelliccioni, Marika Pane, Eugenio Mercuri, Enzo Ricci

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

28

Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation

Marika Pane, Maria Elena Lombardo, Paolo Alfieri, Adele D'Amico, Flaviana Bianco, Gessica Vasco, Giorgia Piccini, Maria Mallardi, Domenico M. Romeo, Valeria Ricotti, Alessandra Ferlini, Francesca Gual

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 606 KB

english, 2012

29

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Sici

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 596 KB

english, 2012

30

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

Pane, Marika, Mazzone, Elena S., Fanelli, Lavinia, De Sanctis, Roberto, Bianco, Flaviana, Sivo, Serena, D’Amico, Adele, Messina, Sonia, Battini, Roberta, Scutifero, Marianna, Petillo, Roberta, Frosini

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 637 KB

english, 2014

31

Early neurodevelopmental assessment in Duchenne muscular dystrophy

Pane, Marika, Scalise, Roberta, Berardinelli, Angela, D’Angelo, Grazia, Ricotti, Valeria, Alfieri, Paolo, Moroni, Isabella, Hartley, Louise, Pera, Maria Carmela, Baranello, Giovanni, Catteruccia, Mich

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 352 KB

english, 2013

32

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

Catteruccia, Michela, Fattori, Fabiana, Codemo, Valentina, Ruggiero, Lucia, Maggi, Lorenzo, Tasca, Giorgio, Fiorillo, Chiara, Pane, Marika, Berardinelli, Angela, Verardo, Margherita, Bragato, Cinzia,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

33

Developmental lag of visuospatial attention in Duchenne muscular dystrophy

Piccini, Giorgia, Gazzellini, Simone, D’Amico, Adele, Pane, Marika, Castelli, Enrico, Vicari, Stefano, Alfieri, Paolo

Journal:

Research in Developmental Disabilities

Year:

2015

Language:

english

File:

PDF, 707 KB

english, 2015

34

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

Tasca, Giorgio, Evilä, Anni, Pane, Marika, Monforte, Mauro, Graziano, Alessandra, Hackman, Peter, Mercuri, Eugenio, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

35

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

De Sanctis, Roberto, Pane, Marika, Sivo, Serena, Ricotti, Valeria, Baranello, Giovanni, Frosini, Silvia, Mazzone, Elena, Bianco, Flaviana, Fanelli, Lavinia, Main, Marion, Corlatti, Alice, D'Amico, Ade

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 851 KB

english, 2015

36

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes

Sivo, Serena, Mazzone, Elena, Antonaci, Laura, De Sanctis, Roberto, Fanelli, Lavinia, Palermo, Concetta, Montes, Jacqueline, Pane, Marika, Mercuri, Eugenio

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 712 KB

english, 2015

37

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Pane, Marika, Mazzone, Elena S., Sormani, Maria Pia, Messina, Sonia, Vita, Gian Luca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, D'Amico, Adele, Lanzillotta, Valentina, Viggiano, Emanuela

Journal:

Year:

2014

Language:

english

File:

PDF, 290 KB

english, 2014

38

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

Pane, Marika, Fanelli, Lavinia, Mazzone, Elena Stacy, Olivieri, Giorgia, D'Amico, Adele, Messina, Sonia, Scutifero, Marianna, Battini, Roberta, Petillo, Roberta, Frosini, Silvia, Sivo, Serena, Vita, G

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

39

Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care?

Bianco, Flaviana, Pane, Marika, D'Amico, Adele, Messina, Sonia, Delogu, Angelica, Soraru, Gianni, Pera, Maria, Mongini, Tiziana, Politano, Luisa, Baranello, Giovanni, Vita, Gianluca, Tiziano, Francesc

Journal:

Neuropediatrics

Year:

2014

Language:

english

File:

PDF, 81 KB

english, 2014

40

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations

Ricotti, Valeria, Mandy, William P L, Scoto, Mariacristina, Pane, Marika, Deconinck, Nicolas, Messina, Sonia, Mercuri, Eugenio, Skuse, David H, Muntoni, Francesco

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 175 KB

english, 2016

41

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, Paolo, Petrini, Stefania, D'Oria, Valentina, D'Amico, Adele, Catteruccia, Michela, Pane, Marika, Sivo, Serena, Magri, Francesca, Brajkovic, Simona, Messina, Sonia, Vita, Gian Luca, Gatti, Bar

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 953 KB

english, 2016

42

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

D'Amico, Adele, Catteruccia, Michela, Baranello, Giovanni, Politano, Luisa, Govoni, Alessandra, Previtali, Stefano Carlo, Pane, Marika, D'Angelo, Maria Grazia, Bruno, Claudio, Messina, Sonia, Ricci, F

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 679 KB

english, 2017

43

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.59 MB

english, 2017

44

A current approach to heart failure in Duchenne muscular dystrophy

D'Amario, Domenico, Amodeo, Antonio, Adorisio, Rachele, Tiziano, Francesco Danilo, Leone, Antonio Maria, Perri, Gianluigi, Bruno, Piergiorgio, Massetti, Massimo, Ferlini, Alessandra, Pane, Marika, Nic

Journal:

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

45

Longitudinal assessments in discordant twins with SMA

Pane, Marika, Lapenta, Leonardo, Abiusi, Emanuela, de Sanctis, Roberto, Luigetti, Marco, Palermo, Concetta, Ranalli, Domiziana, Fiori, Stefania, Tiziano, Francesco Danilo, Mercuri, Eugenio

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 669 KB

english, 2017

46

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction

Pera, Maria Carmela, Luigetti, Marco, Pane, Marika, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Mazzone, Elena S., Antonaci, Laura, Lapenta, Leonardo, Palermo, Concetta, Ranalli, Domiziana, G

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 913 KB

english, 2017

47

Expanded access program with nusinersen in SMA type i in italy: strengths and pitfalls of a successful experience

Messina, Sonia, Pane, Marika, Sansone, Valeria, Bruno, Claudio, Catteruccia, MIchela, Vita, Giuseppe, Palermo, Concetta, Albamonte, Emilio, Pedemonte, Marina, Bertini, Enrico, Binetti, Luca, Mercuri,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 688 KB

english, 2017

48

Clinical phenotypes and trajectories of disease progression in type 1 Spinal Muscular Atrophy

De Sanctis, Roberto, Pane, Marika, Coratti, Giorgia, Palermo, Concetta, Leone, Daniela, Pera, Maria Carmela, Abiusi, Emanuela, Fiori, Stefania, Forcina, Nicola, Fanelli, Lavinia, Lucibello, Simona, Ma

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 1011 KB

english, 2017

49

Early involvement of the supinator muscle in duchenne muscular dystrophy

Tommaso, Tartaglione, Claudia, Brogna, Lara, Cristiano, Tommaso, Verdolotti, Marika, Pane, Luana, Ficociello, Lavinia, Fanelli, Cesare, Colosimo, Eugenio, Mercuri

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 684 KB

english, 2017

50

Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function

Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de S

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 1015 KB

2018