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1

Genetic Neuromuscular Disorders || Myotonic Dystrophy Type 1, Steinert Disease

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 439 KB

english, 2018

2

Genetic Neuromuscular Disorders || Niemann-Pick Disease Type C1

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 243 KB

english, 2018

3

Dominant muscular dystrophy with a novel SYNE1 gene mutation

Fanin, Marina, Savarese, Marco, Nascimbeni, Anna C., Di Fruscio, Giuseppina, Pastorello, Ebe, Tasca, Elisabetta, Trevisan, Carlo P., Nigro, Vincenzo, Angelini, Corrado

Journal:

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

4

Genetic Neuromuscular Disorders || Charcot-Marie-Tooth Disease, Type 1A

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 275 KB

english, 2018

5

Genetic Neuromuscular Disorders || SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 127 KB

english, 2018

6

Genetic Neuromuscular Disorders || Charcot-Marie-Tooth Neuropathy with Pyramidal Features

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 234 KB

english, 2018

7

Remodel mitochondria and get energized

Vissing, John, Angelini, Corrado

Journal:

Year:

2018

Language:

english

File:

PDF, 124 KB

english, 2018

8

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fat

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 820 KB

english, 2018

9

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

Pegoraro, Elena, Carelli, Valerio, Zeviani, Massimo, Cortelli, Pietro, Montagna, Pasquale, Barboni, Piero, Angelini, Corrado, Hoffman, Eric P.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 719 KB

1996

10

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

Gabriele Siciliano, Bruno Rossi, Laura Manca, Corrado Angelini, Alessandra Tessa, Lodovica Vergani, Andrea Martinuzzi, Alberto Muratorio

Journal:

Year:

1996

Language:

english

File:

PDF, 634 KB

english, 1996

11

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: Effect of propionyl-L-carnitine

Gregorio Brevetti, Marina Fanin, Vincenzo de Amicis, Rosalba Carrozzo, Francesco di Lello, Vincenzo Domenico Martone, Corrado Angelini

Journal:

Year:

1997

Language:

english

File:

PDF, 281 KB

english, 1997

12

Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb–girdle muscular dystrophy patient

Corrado Angelini, Marina Fanin, Elisabetta Menegazzo, Maria Pia Freda, David J. Duggan, Eric P. Hoffman

Journal:

Year:

1998

Language:

english

File:

PDF, 324 KB

english, 1998

13

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

Marco Domenico Bonifati, Giampietro Ruzza, Piero Bonometto, Angela Berardinelli, Kseniya Gorni, Simona Orcesi, Giovanni Lanzi, Corrado Angelini

Journal:

Year:

2000

Language:

english

File:

PDF, 118 KB

english, 2000

14

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

Claudio Bruno, Denise Cassandrini, Andrea Martinuzzi, Antonio Toscano, Maurizio Moggio, Lucia Morandi, Serena Servidei, Tiziana Mongini, Corrado Angelini, Olimpia Musumeci, Giacomo P. Comi, Costanza L

Journal:

Year:

2006

Language:

english

File:

PDF, 147 KB

english, 2006

15

Motor function–muscle strength relationship in spinal muscular atrophy

Luciano Merlini, Enrico Bertini, Carlo Minetti, Tiziana Mongini, Lucia Morandi, Corrado Angelini, Giuseppe Vita

Journal:

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

16

The role of corticosteroids in muscular dystrophy: A critical appraisal

Corrado Angelini

Journal:

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

17

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Valerio Pisani, Maria Beatrice Panico, Chiara Terracciano, Emanuela Bonifazi, Giovanni Meola, Giuseppe Novelli, Giorgio Bernardi, Corrado Angelini, Roberto Massa

Journal:

Year:

2008

Language:

english

File:

PDF, 248 KB

english, 2008

18

Tubular aggregates: Sarcoplasmic reticulum origin, calcium storage ability, and functional implications

Dr. Giovanni Salviati, Sandra Pierobon-Bormioli, Romeo Betto, Ernesto Damiani, Corrado Angelini, Steven P. Ringel, Sergio Salvatori, Alfredo Margreth

Journal:

Year:

1985

Language:

english

File:

PDF, 824 KB

english, 1985

19

Familial neuromuscular disease with tubular aggregates

Dr. Sandra Pierobon-Bormioli, Mario Armani, Dr. Steven P. Ringel, Corrado Angelini, Ludovica Vergani, Dr. Romeo Betto, Dr. Giovanni Salviati

Journal:

Year:

1985

Language:

english

File:

PDF, 733 KB

english, 1985

20

Myosin heavy chain composition of muscle fibers in spinal muscular atrophy

Dr. Donatella Biral, Dr. Elio Scarpini, Dr. Corrado Angelini, Dr. Giovanni Salviati, Dr. Alfredo Margreth

Journal:

Year:

1989

Language:

english

File:

PDF, 918 KB

english, 1989

21

Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency

Dr. William K. Seltzer, Dr. Corrado Angelini, Ms. Gulshan Dhariwal, Dr. Steven P. Ringel, Dr. Edward R. B. McCabe

Journal:

Year:

1989

Language:

english

File:

PDF, 615 KB

english, 1989

22

Dystrophin-positive fibers in duchenne dystrophy: Origin and correlation to clinical course

Ms. Marina Fanin, Mr. Gian Antonio Danieli, Dr. Morena Cadaldini, Ms. Marta Miorin, Dr. Libero Vitiello, Dr. Corrado Angelini

Journal:

Year:

1995

Language:

english

File:

PDF, 638 KB

english, 1995

23

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?

Ms. Marina Fanin, Ms. Maria Pia Freda, Dr. Libero Vitiello, Gian Antonio Danieli, Dr. Elena Pegoraro, Dr. Corrado Angelini

Journal:

Year:

1996

Language:

english

File:

PDF, 586 KB

english, 1996

24

Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

Giovanna Cenacchi, Papa Valentina, Fanin Marina, Pegoraro Elena, Angelini Corrado

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 505 KB

english, 2011

25

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

Spinazzi, Marco, Casarin, Alberto, Pertegato, Vanessa, Salviati, Leonardo, Angelini, Corrado

Journal:

Nature Protocols

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

26

New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

Corrado Angelini, Claudio Semplicini, Sabrina Ravaglia, Maurizio Moggio, Giacomo P. Comi, Olimpia Musumeci, Elena Pegoraro, Paola Tonin, Massimiliano Filosto, Serenella Servidei, Lucia Morandi, Grazia

Journal:

Year:

2012

Language:

english

File:

PDF, 781 KB

english, 2012

27

Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease

Anna Chiara Nascimbeni, Marina Fanin, Eva Masiero, Claudio Semplicini, Elisabetta Tasca, Marco Sandri, Corrado Angelini

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

28

Neuromuscular diseases: advances in therapy and diagnosis

Corrado Angelini

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

29

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

Marco Spinazzi, Alberto Casarin, Vanessa Pertegato, Mario Ermani, Leonardo Salviati, Corrado Angelini

Journal:

Year:

2011

Language:

english

File:

PDF, 1.24 MB

english, 2011

30

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

Elena Pegoraro, Bruno F. Gavassini, Carlo Borsato, Paola Melacini, Andrea Vianello, Roberto Stramare, Giovanna Cenacchi, Corrado Angelini

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 3.26 MB

english, 2007

31

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing, Thomas O Krag

Journal:

BMC Musculoskeletal Disorders

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

32

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Br

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

33

Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy

Fanin, Marina, Nascimbeni, Anna C., Angelini, Corrado

Journal:

Year:

2014

Language:

english

File:

PDF, 550 KB

english, 2014

34

Genetic Neuromuscular Disorders ||

Angelini, Corrado

Year:

2014

Language:

english

File:

PDF, 12.42 MB

english, 2014

35

Natural history of upper motor neuron-dominant ALS

Sorarù, Gianni, Ermani, Mario, Logroscino, Giancarlo, Palmieri, Arianna, D' Ascenzo, Carla, Orsetti, Valeria, Volpe, Marco, Cima, Valentina, Zara, Gabriella, Pegoraro, Elena, Angelini, Corrado

Journal:

Amyotrophic Lateral Sclerosis

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

36

Clinical and Biochemical Aspects of Carnitine Deficiency and Insufficiency: Transport Defects and Inborn Errors of β-Oxidation

Angelini, Corrado, Vergani, Lodovica, Martinuzzi, Andrea

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

1992

Language:

english

File:

PDF, 1.59 MB

english, 1992

37

Comparative Study of Acid Maltase Deficiency

Angelini, Corrado

Journal:

Archives of Neurology

Year:

1972

Language:

english

File:

PDF, 625 KB

english, 1972

38

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

39

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

Baldanzi, Sigrid, Bevilacqua, Francesca, Lorio, Rita, Volpi, Leda, Simoncini, Costanza, Petrucci, Antonio, Cosottini, Mirco, Massimetti, Gabriele, Tognoni, Gloria, Ricci, Giulia, Angelini, Corrado, Si

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 987 KB

english, 2016

40

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Fanin, Marina, Peterle, Enrico, Fritegotto, Chiara, Nascimbeni, Anna C., Tasca, Elisabetta, Torella, Annalaura, Nigro, Vincenzo, Angelini, Corrado

Journal:

Year:

2015

Language:

english

File:

PDF, 171 KB

english, 2015

41

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

Fanin, Marina, Angelini, Corrado

Journal:

Year:

2015

Language:

english

File:

PDF, 615 KB

english, 2015

42

Next generation sequencing detection of late onset pompe disease

Angelini, Corrado, Savarese, Marco, Fanin, Marina, Nigro, Vincenzo

Journal:

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

43

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I

Cudia, Paola, Weis, Luca, Baba, Alfonc, Kiper, Pawel, Marcante, Andrea, Rossi, Simonetta, Angelini, Corrado, Piccione, Francesco

Journal:

American Journal of Physical Medicine & Rehabilitation

Year:

2016

Language:

english

File:

PDF, 625 KB

english, 2016

44

Reply

Fanin, Marina, Nigro, Vincenzo, Angelini, Corrado

Journal:

Year:

2016

Language:

english

File:

PDF, 570 KB

english, 2016

45

Progress and challenges in diagnosis of dysferlinopathy

Fanin, Marina, Angelini, Corrado

Journal:

Year:

2016

Language:

english

File:

PDF, 2.14 MB

english, 2016

46

Genetic Neuromuscular Disorders || Facioscapulohumeral Muscular Dystrophy Type 1A

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 411 KB

english, 2018

47

Genetic Neuromuscular Disorders || Amyotrophic Lateral Sclerosis

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 126 KB

english, 2018

48

Genetic Neuromuscular Disorders || Facioscapulohumeral Muscular Dystrophy Type 2

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 258 KB

english, 2018

49

Genetic Neuromuscular Disorders || Glycogenosis Type 7, Tarui Disease

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 127 KB

english, 2018

50

Genetic Neuromuscular Disorders || Slow-Channel Congenital Myasthenic Syndrome

Angelini, Corrado

Year:

2018

Language:

english

File:

PDF, 269 KB

english, 2018