Adele D'Amico: search on Z-Library

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1

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

Modoni, Anna, DʼAmico, Adele, Dallapiccola, Bruno, Mereu, Maria Lucia, Merlini, Luciano, Pagliarani, Serena, Pisaneschi, Elisa, Silvestri, Gabriella, Torrente, Isabella, Valente, Enza Maria, Lo Monaco

Journal:

Journal of Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 244 KB

english, 2011

2

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

3

Management of congenital muscular dystrophies related to defects in theLMNAgene

Susana Quijano-Roy,Adele D'Amico

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 261 KB

english, 2015

4

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

Castiglioni, Claudia, Cassandrini, Denis, Fattori, Fabiana, Bellacchio, Emanuele, D'Amico, Adele, Alvarez, Karin, Gejman, Roger, Diaz, Jorge, Santorelli, Filippo M., Romero, Norma B., Bertini, Enrico,

Journal:

Year:

2014

Language:

english

File:

PDF, 3.61 MB

english, 2014

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

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

7

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Travaglini, Lorena, Nardella, Marta, Bellacchio, Emanuele, D'Amico, Adele, Capuano, Alessandro, Frusciante, Roberto, Di Capua, Matteo, Cusmai, Raffaella, Barresi, Sabina, Morlino, Silvia, Fernández-Fe

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.37 MB

english, 2017

8

The empowerment of translational research: lessons from laminopathies

Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D’Adamo, Adele D’Amico, Maria Rosaria D’Ap

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

9

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

Irene, Bottillo, Carla, Giordano, Bruna, Cerbelli, Daniela, D'Angelantonio, Martina, Lipari, Taisia, Polidori, Silvia, Majore, Enrico, Bertini, Adele, D'Amico, Diana, Giannarelli, Carmelilia, De Berna

Journal:

Cardiovascular Pathology

Year:

2016

Language:

english

File:

PDF, 2.51 MB

english, 2016

10

Diurnal variation in non-structural carbohydrate storage in trees: remobilization and vertical mixing

Tixier, Aude, Orozco, Jessica, Amico Roxas, Adele, Earles, Jeffrey Mason, Zwieniecki, Maciej A.

Journal:

PLANT PHYSIOLOGY

Year:

2018

Language:

english

File:

PDF, 2.69 MB

english, 2018

11

Spinal muscular atrophy

Adele D’Amico, Eugenio Mercuri, Francesco D Tiziano, Enrico Bertini

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 344 KB

english, 2011

12

The Effect of Plant Water Status on the Chemical Composition of Pistachio Nuts (Pistacia vera L. Cultivar Bianca)

Amico Roxas, Adele, Marino, Giulia, Avellone, Giuseppe, Caruso, Tiziano, Marra, Francesco Paolo

Journal:

Agriculture (MDPI)

Year:

2020

File:

PDF, 260 KB

2020

13

[Handbook of Clinical Neurology] Pediatric Neurology Part III Volume 113 || Metabolic neuropathies and myopathies

Year:

2013

Language:

english

File:

PDF, 5.53 MB

english, 2013

14

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Susana Quijano-Roy, Blaise Mbieleu, Carsten G. Bönnemann, Pierre-Yves Jeannet, Jaume Colomer, Nigel F. Clarke, Jean-Marie Cuisset, Helen Roper, Linda De Meirleir, Adele D'Amico, Rabah Ben Yaou, Andrés

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 1.01 MB

english, 2008

15

Temporal patterns of neurogenesis in avian cranial sensory and autonomic ganglia

Dr. Adele D'amico-Martel

Journal:

Developmental Dynamics

Year:

1982

Language:

english

File:

PDF, 2.31 MB

english, 1982

16

Genomic rearrangements at theIGHMBP2gene locus in two patients with SMARD1

Ulf P. Guenther, Markus Schuelke, Enrico Bertini, Adele D’Amico, Nathalie Goemans, Katja Grohmann, Christoph Hübner, Raymonda Varon

Journal:

Year:

2004

Language:

english

File:

PDF, 619 KB

english, 2004

17

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, Carola, Niceta, Marcello, Fattori, Fabiana, Lindvall, Björn, Ciolfi, Andrea, D’Amico, Adele, Tasca, Giorgio, Petrini, Stefania, Tulinius, Mar, Tartaglia, Marco, Oldfors, Anders, Bertini, Enri

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 1.88 MB

english, 2014

18

Spring bud growth depends on sugar delivery by xylem and water recirculation by phloem Münch flow in Juglans regia

Tixier, Aude, Sperling, Or, Orozco, Jessica, Lampinen, Bruce, Amico Roxas, Adele, Saa, Sebastian, Earles, J. Mason, Zwieniecki, Maciej A.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.57 MB

english, 2017

19

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D’

Journal:

Year:

2016

Language:

english

File:

PDF, 597 KB

english, 2016

20

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

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

Journal:

Year:

2019

Language:

english

File:

PDF, 168 KB

english, 2019

21

Gain and loss of abilities in type II SMA: a 12-month natural history study

Coratti, Giorgia, Lucibello, Simona, Pera, Maria C, Duong, Tina, Lofra, Robert Muni, Civitello, Matthew, D'Amico, Adele, Goemans, Nathalie, Darras, Basil T, Bruno, Claudio, Sansone, Valeria A, Day, Jo

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 727 KB

2020

22

Rituximab in a childhood-onset idiopathic refractory chronic inflammatory demyelinating polyneuropathy

Adele D’Amico, Michela Catteruccia, Fabrizio De Benedetti, Marina Vivarelli, Manuela Colucci, Simona Cascioli, Enrico Bertini

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

23

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Olivier Danhaive, Simona Lozzi, Adele D'amico, Rita Devito, Renata Boldrini, Carlo Corchia, Piero Bagolan, Enrico Bertini

Journal:

Journal of Pediatric Surgery

Year:

2007

Language:

english

File:

PDF, 403 KB

english, 2007

24

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Diodato, Daria, Tasca, Giorgio, Verrigni, Daniela, D'Amico, Adele, Rizza, Teresa, Tozzi, Giulia, Martinelli, Diego, Verardo, Margherita, Invernizzi, Federica, Nasca, Alessia, Bellacchio, Emanuele, Ghe

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.44 MB

english, 2015

25

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

26

Fostering Locomotion Fluency of Five Adolescents with Rett Syndrome through a Microswitch-Based Program: Contingency Awareness and Social Rating

Stasolla, Fabrizio, Caffò, Alessandro O., Perilli, Viviana, Boccasini, Adele, Damiani, Rita, D’Amico, Fiora

Journal:

Journal of Developmental and Physical Disabilities

Year:

2017

Language:

english

File:

PDF, 671 KB

english, 2017

27

miRNAs as serum biomarkers for Duchenne muscular dystrophy

Davide Cacchiarelli, Ivano Legnini, Julie Martone, Valentina Cazzella, Adele D'Amico, Enrico Bertini, Irene Bozzoni

Journal:

EMBO Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 713 KB

english, 2011

28

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

29

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Bello, Luca, Melacini, Paola, Pezzani, Raffaele, D'Amico, Adele, Piva, Luisa, Leonardi, Emanuela, Torella, Annalaura, Soraru, Gianni, Palmieri, Arianna, Smaniotto, Gessica, Gavassini, Bruno F, Vianell

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

30

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

D'Amico, Adele, Fattori, Fabiana, Tasca, Giorgio, Petrini, Stefania, Gualandi, Francesca, Bruselles, Alessandro, D'Oria, Valentina, Verardo, Margherita, Carrozzo, Rosalba, Niceta, Marcello, Udd, Bjarn

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 3.61 MB

english, 2017

31

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi

Journal:

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

32

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Catteruccia, Michela, Verrigni, Daniela, Martinelli, Diego, Torraco, Alessandra, Agovino, Teresa, Bonafé, Luisa, D'Amico, Adele, Donati, Maria Alice, Adorisio, Rachele, Santorelli, Filippo Maria, Carr

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 241 KB

english, 2014

33

X-linked myotubular myopathy

Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, D'Amico, Adele, Dowling, James J., Darras, Basil T., Daron, Aurore, Hernandez, A

Journal:

Year:

2019

Language:

english

File:

PDF, 946 KB

english, 2019

34

‘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

35

Predictive energy equations for spinal muscular atrophy type I children

Bertoli, Simona, DeÂ Amicis, Ramona, Bedogni, Giorgio, Foppiani, Andrea, Leone, Alessandro, Ravella, Simone, Mastella, Chiara, Baranello, Giovanni, Masson, Riccardo, Bertini, Enrico, D'Amico, Adele, P

Journal:

American Journal of Clinical Nutrition

Year:

2020

File:

PDF, 2.25 MB

2020

36

Clinical and genetic characterization of Chanarin–Dorfman syndrome

Claudio Bruno, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, Marco Spada, Giovanni Li Volti, Adele D’Amico, Federica Trucco, Marcello Arca, Carlo Casal

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 473 KB

english, 2008

37

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D’Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Tore

Journal:

Year:

2018

File:

PDF, 1.07 MB

2018

38

Congenital myopathies

Adele D’Amico, Enrico Bertini

Journal:

Current Neurology and Neuroscience Reports

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

39

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

Messina, Sonia, Vita, Gian Luca, Sframeli, Maria, Mondello, Stefania, Mazzone, Elena, D'Amico, Adele, Berardinelli, Angela, La Rosa, Matteo, Bruno, Claudio, Distefano, Maria Grazia, Baranello, Giovann

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 749 KB

english, 2016

40

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

41

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

42

Extending Microswitch-Cluster Programs to Promote Occupation Activities and Reduce Mouthing by six Children with Autism Spectrum Disorders and Intellectual Disabilities

Stasolla, Fabrizio, Perilli, Viviana, Caffò, Alessandro O., Boccasini, Adele, Stella, Anna, Damiani, Rita, Albano, Vincenza, D’Amico, Fiora, Damato, Concetta, Albano, Annalisa

Journal:

Journal of Developmental and Physical Disabilities

Year:

2017

Language:

english

File:

PDF, 748 KB

english, 2017

43

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

44

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

45

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1

Rubboli, Guido, Veggiotti, Pierangelo, Pini, Antonella, Berardinelli, Angela, Cantalupo, Gaetano, Bertini, Enrico, Tiziano, Francesco Danilo, D'Amico, Adele, Piazza, Elena, Abiusi, Emanuela, Fiori, St

Journal:

Year:

2015

Language:

english

File:

PDF, 1009 KB

english, 2015

46

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

Verrigni, Daniela, Diodato, Daria, Di Nottia, Michela, Torraco, Alessandra, Bellacchio, Emanuele, Rizza, Teresa, Tozzi, Giulia, Verardo, Margherita, Piemonte, Fiorella, Tasca, Giorgio, D'Amico, Adele,

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.17 MB

english, 2016

47

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

48

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

49

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

Language:

english

File:

PDF, 1.10 MB

english, 2019

50

Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts

Cazzella, Valentina, Martone, Julie, Pinnarò, Chiara, Santini, Tiziana, Twayana, Shyam Sundar, Sthandier, Olga, D'Amico, Adele, Ricotti, Valeria, Bertini, Enrico, Muntoni, Francesco, Bozzoni, Irene

Journal:

Molecular Therapy

Year:

2012

Language:

english

File:

PDF, 2.34 MB

english, 2012

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